OMIM:
Adams-Oliver syndrome 5, 616028 (3)
Adams-Oliver syndrome 6, 616589 (3)
Adenine phosphoribosyltransferase deficiency, 614723 (3)
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
Adenocarcinoma of lung, somatic, 211980 (3)
Adenocarcinoma of lung, somatic, 211980 (3)
Adenocarcinoma of lung, somatic, 211980 (3)
Adenocarcinoma, colonic, somatic (3)
Adenoma, periampullary, somatic (3)
Adenomas, multiple colorectal, 608456 (3)
Adenomas, salivary gland pleomorphic, somatic, 181030 (3)
Adenomatous polyposis coli, 175100 (3)
Adenosine deaminase deficiency, partial, 102700 (3)
Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)
Adenylosuccinase deficiency, 103050 (3)
Adermatoglyphia, 136000 (3)
Adiponectin deficiency, 612556 (3)
Adrenal adenoma, somatic (3)
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)
Adrenal hypoplasia, congenital, 300200 (3)
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Adrenocortical insufficiency, 612964 (3)
Adrenocortical tumor, somatic, (3)
Adrenocorticotropic hormone deficiency, 201400 (3)
Adrenoleukodystrophy, 300100 (3)
Adrenomyeloneuropathy, adult, 300100 (3)
Adult i phenotype without cataract, 110800 (3)
Advanced sleep phase syndrome, familial, 1, 604348 (3)
Advanced sleep-phase syndrome, familial, 2, 615224 (3)
Afibrinogenemia, congenital, 202400 (3)
Afibrinogenemia, congenital, 202400 (3)
Factor V and factor VIII, combined deficiency of, 613625 (3)
Factor V deficiency, 227400 (3)
Factor VII deficiency, 227500 (3)
Factor X deficiency, 227600 (3)
Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
Factor XII deficiency, 234000 (3)
Factor XIIIA deficiency, 613225 (3)
Factor XIIIB deficiency, 613235 (3)
Failure of tooth eruption, primary, 125350 (3)
Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
Familial adenomatous polyposis 3, 616415 (3)
Familial adenomatous polyposis 4, 617100 (3)
Familial cold autoinflammatory syndrome 2, 611762 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)
Familial cold inflammatory syndrome 1, 120100 (3)
Fanconi anemia, complementation group A, 227650 (3)
{Esophagitis, eosinophilic, 1} (2)
{Esophagitis, eosinophilic, 2} (2)
{Essential tremor, hereditary, 1}, 190300 (3)
{Exfoliation syndrome, susceptibility to}, 177650 (3)
{Fatty liver disease, nonalcoholic, susceptibility to, 1} (2)
{Fatty liver disease, nonalcoholic, susceptibility to, 2} (2)
{Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3)
{Follicular lymphoma, susceptibility to, 1} (2)
{Gallbladder disease 4}, 611465 (3)
Afibrinogenemia, congenital, 202400 (3)
Agammaglobulinemia 1, 601495 (3)
Agammaglobulinemia 2, 613500 (3)
Agammaglobulinemia 3, 613501 (3)
Agammaglobulinemia 6, 612692 (3)
Agammaglobulinemia 8, autosomal dominant, 616941 (3)
Agammaglobulinemia, X-linked 1, 300755 (3)
Agammaglobulinemia, X-linked 2 (2)
Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Agnathia-otocephaly complex, 202650 (3)
Aicardi syndrome (2)
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Aicardi-Goutieres syndrome 2, 610181 (3)
Aicardi-Goutieres syndrome 3, 610329 (3)
Aicardi-Goutieres syndrome 4, 610333 (3)
Aicardi-Goutieres syndrome 5, 612952 (3)
Aicardi-Goutieres syndrome 6, 615010 (3)
Aicardi-Goutieres syndrome 7, 615846 (3)
Al Kaissi syndrome, 617694 (3)
Al-Raqad syndrome, 616459 (3)
Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Alagille syndrome 1, 118450 (3)
Alagille syndrome 2, 610205 (3)
Aland Island eye disease, 300600 (3)
Alazami syndrome, 615071 (3)
Alazami-Yuan syndrome, 617126 (3)
Albinism, brown oculocutaneous, 203200 (3)
Albinism, oculocutaneous, type IA, 203100 (3)
Albinism, oculocutaneous, type IB, 606952 (3)
Albinism, oculocutaneous, type II, 203200 (3)
Albinism, oculocutaneous, type III, 203290 (3)
Albinism, oculocutaneous, type IV, 606574 (3)
Albinism, oculocutaneous, type V (2)
Albinism, oculocutaneous, type VI, 113750 (3)
Fanconi anemia, complementation group B, 300514 (3)
Fanconi anemia, complementation group C, 227645 (3)
Fanconi anemia, complementation group D1, 605724 (3)
Fanconi anemia, complementation group D2, 227646 (3)
Fanconi anemia, complementation group E, 600901 (3)
Fanconi anemia, complementation group F, 603467 (3)
Fanconi anemia, complementation group G, 614082 (3)
Fanconi anemia, complementation group I, 609053 (3)
Fanconi anemia, complementation group J, 609054 (3)
Fanconi anemia, complementation group L, 614083 (3)
Fanconi anemia, complementation group N, 610832 (3)
Fanconi anemia, complementation group O, 613390 (3)
Fanconi anemia, complementation group P, 613951 (3)
Fanconi anemia, complementation group Q, 615272 (3)
Fanconi anemia, complementation group S, 617883 (3)
{Gastric cancer risk after H. pylori infection}, 137215 (3)
{Gastric cancer risk after H. pylori infection}, 137215 (3)
{Gene expression, variation in, QTL} (2)
{Gene expression, variation in, QTL} (2)
{Gilles de la Tourette syndrome, susceptibility to}, 137580 (3)
{Glaucoma, normal tension, susceptibility to}, 606657 (3)
{Glaucoma, normal tension, susceptibility to}, 606657 (3)
{Glioblastoma 3}, 613029 (3)
{Glioma susceptibility 1}, 137800 (3)
Albinism, oculocutaneous, type VII, 615179 (3)
Albinism-deafness syndrome (2)
Alcohol sensitivity, acute, 610251 (3)
Aldosterone to renin ratio raised (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
Alexander disease, 203450 (3)
Alkaptonuria, 203500 (3)
Alkuraya-Kucinskas syndrome, 617822 (3)
Allan-Herndon-Dudley syndrome, 300523 (3)
Alopecia areata 1 (2)
Alopecia areata 2 (2)
Alopecia universalis, 203655 (3)
Alopecia, androgenetic, 1 (2)
Alopecia, androgenetic, 2 (2)
Alopecia, androgenetic, 3 (2)
Alopecia-mental retardation syndrome 1 (2)
Alopecia-mental retardation syndrome 2 (2)
Alopecia-mental retardation syndrome 3 (2)
Alpha-1-antichymotrypsin deficiency (3)
Alpha-2-macroglobulin deficiency, 614036 (1)
Alpha-2-plasmin inhibitor deficiency, 262850 (3)
Alpha-fetoprotein deficiency, 615969 (3)
Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
Alpha-methylacetoacetic aciduria, 203750 (3)
Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)
Alpha-thalassemia/mental retardation syndrome, 301040 (3)
Alpha-thalassemia/mental retardation syndrome, type 1 (4)
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
Alport syndrome 1, X-linked, 301050 (3)
Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (4)
Alstrom syndrome, 203800 (3)
Alternating hemiplegia of childhood 1, 104290 (3)
Fanconi anemia, complementation group T, 616435 (3)
Fanconi renotubular syndrome 1 (2)
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)
Fanconi-Bickel syndrome, 227810 (3)
Farber lipogranulomatosis, 228000 (3)
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
Fatty liver, acute, of pregnancy, 609016 (3)
Febrile seizures, familial, 1 (2)
Febrile seizures, familial, 10 (2)
Febrile seizures, familial, 11, 614418 (3)
Febrile seizures, familial, 2 (2)
Febrile seizures, familial, 3A, 604403 (3)
Febrile seizures, familial, 3B, 613863 (3)
Febrile seizures, familial, 5 (2)
Febrile seizures, familial, 6 (2)
Febrile seizures, familial, 7 (2)
Febrile seizures, familial, 8, 611277 (3)
Febrile seizures, familial, 9 (2)
{Glioma susceptibility 2}, 613028 (3)
{Glioma susceptibility 4} (2)
{Glioma susceptibility 5} (2)
{Glioma susceptibility 6} (2)
{Glioma susceptibility 7} (2)
{Glioma susceptibility 8} (2)
{Glioma susceptibility 9}, 616568 (3)
{Glioma, susceptibility to, somatic}, 137800 (3)
{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
?Craniofacioskeletal syndrome (2)
Alternating hemiplegia of childhood 2, 614820 (3)
Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)
Alveolar soft-part sarcoma, 606243 (3)
Alzheimer disease 1, familial, 104300 (3)
Alzheimer disease 17 (2)
Alzheimer disease 6 (2)
Alzheimer disease 8 (2)
Alzheimer disease, type 3, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)
Alzheimer disease-10 (2)
Alzheimer disease-11 (2)
Alzheimer disease-2, 104310 (3)
Alzheimer disease-4, 606889 (3)
Alzheimer disease-5 (2)
Alzheimer disease-7 (2)
Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3)
Amelogenesis imperfecta, type 1E, 301200 (3)
Amelogenesis imperfecta, type IA, 104530 (3)
Amelogenesis imperfecta, type IB, 104500 (3)
Amelogenesis imperfecta, type IC, 204650 (3)
Amelogenesis imperfecta, type IF, 616270 (3)
Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
Amelogenesis imperfecta, type IH, 616221 (3)
Amelogenesis imperfecta, type IIA1, 204700 (3)
Amelogenesis imperfecta, type IIA2, 612529 (3)
Amelogenesis imperfecta, type IIA3, 613211 (3)
Amelogenesis imperfecta, type IIA4, 614832 (3)
Amelogenesis imperfecta, type IIA5, 615887 (3)
Amelogenesis imperfecta, type IIIA, 130900 (3)
Amelogenesis imperfecta, type IJ, 617297 (3)
Amelogenesis imperfecta, type IV, 104510 (3)
Aminoacylase 1 deficiency, 609924 (3)
Amyloidosis, 3 or more types, 105200 (3)
Amyloidosis, Finnish type, 105120 (3)
Amyloidosis, familial visceral, 105200 (3)
Feingold syndrome 1, 164280 (3)
Feingold syndrome 2, 614326 (3)
Fetal akinesia deformation sequence, 208150 (3)
Fetal akinesia deformation sequence, 208150 (3)
Fetal hemoglobin quantitative trait locus 1, 141749 (3)
Fetal hemoglobin quantitative trait locus 1, 141749 (3)
Fetal hemoglobin quantitative trait locus 2 (2)
Fetal hemoglobin quantitative trait locus 3 (2)
Fetal hemoglobin quantitative trait locus 4 (2)
Fibrochondrogenesis 1, 228520 (3)
Fibrochondrogenesis 2, 614524 (3)
Fibrodysplasia ossificans progressiva, 135100 (3)
Fibromatosis, gingival, 2 (2)
Fibromatosis, gingival, 3 (2)
Fibromatosis, gingival, 4 (2)
Fibromatosis, gingival, 5, 617626 (3)
Fibrosis of extraocular muscles, congenital, 1, 135700 (3)
{Glucocorticoid therapy, response to}, 614400 (3)
{Gout susceptibility 4}, 612671 (3)
{Graft-versus-host disease, protection against}, 614395 (3)
{Graves disease, susceptibility to, 1} (2)
{Graves disease, susceptibility to, 2} (2)
{Graves disease, susceptibility to, X-linked} (2)
{H. pylori infection, susceptibility to}, 600263 (3)
{HDL response to hormone replacement, augmented} (3)
{HFE hemochromatosis, modifier of}, 235200 (3)
Amyloidosis, hereditary, transthyretin-related, 105210 (3)
Amyloidosis, primary localized cutaneous, 1, 105250 (3)
Amyloidosis, primary localized cutaneous, 3, 617920 (3)
Amyloidosis, renal, 105200 (3)
Amyotrophic lateral sclerosis 1, 105400 (3)
Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)
Amyotrophic lateral sclerosis 11, 612577 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)
Amyotrophic lateral sclerosis 17, 614696 (3)
Amyotrophic lateral sclerosis 18, 614808 (3)
Amyotrophic lateral sclerosis 19, 615515 (3)
Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)
Amyotrophic lateral sclerosis 20, 615426 (3)
Amyotrophic lateral sclerosis 21, 606070 (3)
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3)
Amyotrophic lateral sclerosis 3 (2)
Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)
Amyotrophic lateral sclerosis 7 (2)
Amyotrophic lateral sclerosis 8, 608627 (3)
Amyotrophic lateral sclerosis 9, 611895 (3)
Amyotrophy, hereditary neuralgic, 162100 (3)
Amytrophic lateral sclerosis 23, 617839 (3)
Analbuminemia, 616000 (3)
Anauxetic dysplasia 1, 607095 (3)
Anauxetic dysplasia 2, 617396 (3)
Andersen syndrome, 170390 (3)
Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
Fibrosis of extraocular muscles, congenital, 2, 602078 (3)
Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)
Fibrosis of extraocular muscles, congenital, 3B, 135700 (3)
Fibrosis of extraocular muscles, congenital, 3C (2)
Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
Filippi syndrome, 272440 (3)
Fish-eye disease, 136120 (3)
Fletcher factor (prekallikrein) deficiency, 612423 (3)
Floating-Harbor syndrome, 136140 (3)
Focal cortical dysplasia, type II, somatic, 607341 (3)
Focal cortical dysplasia, type II, somatic, 607341 (3)
Focal dermal hypoplasia, 305600 (3)
Focal facial dermal dysplasia 3, Setleis type, 227260 (3)
Focal facial dermal dysplasia 4, 614974 (3)
Focal segmental glomerulosclerosis 8, 616032 (3)
Focal segmental glomerulosclerosis 9, 616220 (3)
{HIV infection, resistance to}, 609423 (2)
{HIV infection, susceptibility/resistance to} (3)
{HIV infection, susceptibility/resistance to} (3)
{HIV type 1, susceptibility to}, 609423 (3)
{HIV-1 disease, delayed progression of} (3)
{HIV-1 disease, rapid progression of} (3)
{HIV-1 viremia, susceptibility to}, 609423 (3)
{HIV-1, resistance to}, 609423 (3)
{HIV-1, susceptibility to}, 609423 (3)
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3)
Anemia, hemolytic, Rh-null, regulator type, 268150 (3)
Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Anemia, sideroblastic, 1, 300751 (3)
Bardet-Biedl syndrome 13, 615990 (3)
CINCA syndrome, 607115 (3)
CK syndrome, 300831 (3)
CLAPO syndrome, somatic, 613089 (3)
CLOVE syndrome, somatic, 612918 (3)
COACH syndrome, 216360 (3)
COACH syndrome, 216360 (3)
COACH syndrome, 216360 (3)
CODAS syndrome, 600373 (3)
COMMAD syndrome, 617306 (3)
COPD, rate of decline of lung function in, 606963 (3)
CPT II deficiency, infantile, 600649 (3)
CPT II deficiency, lethal neonatal, 608836 (3)
CPT II deficiency, myopathic, stress-induced, 255110 (3)
CPT deficiency, hepatic, type IA, 255120 (3)
CR1 deficiency (1)
CRASH syndrome, 303350 (3)
Caffey disease, 114000 (3)
Calcification of joints and arteries, 211800 (3)
Campomelic dysplasia with autosomal sex reversal, 114290 (3)
Campomelic dysplasia, 114290 (3)
Camptodactyly 1 (2)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
Camurati-Engelmann disease, 131300 (3)
Canavan disease, 271900 (3)
Candidiasis, familial, 1, autosomal dominant (2)
Candidiasis, familial, 2, autosomal recessive, 212050 (3)
Candidiasis, familial, 3 (2)
Folate malabsorption, hereditary, 229050 (3)
Fontaine progeroid syndrome, 612289 (3)
Forebrain defects (3)
Forsythe-Wakeling syndrome (2)
Foveal hypoplasia 1, 136520 (3)
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Fragile X syndrome, 300624 (3)
Fragile X tremor/ataxia syndrome, 300623 (3)
Frank-ter Haar syndrome, 249420 (3)
Fraser syndrome 1, 219000 (3)
Fraser syndrome 2, 617666 (3)
Fraser syndrome 3, 617667 (3)
Frasier syndrome, 136680 (3)
Frias syndrome (4)
Friedreich ataxia 2 (2)
Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
Frontometaphyseal dysplasia 1, 305620 (3)
{HIV/AIDS, susceptibility to}, 609423 (3)
{HIV1 infection, resistance to}, 609423 (3)
{HIV1, resistance to}, 609423 (3)
{Hangover, susceptibility to}, 610251 (3)
{Hashimoto thyroiditis}, 140300 (3)
{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3)
?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)
Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)
Anemia, sideroblastic, 4, 182170 (3)
Anemia, sideroblastic, with ataxia, 301310 (3)
Aneurysm, intracranial berry, 1 (2)
Aneurysm, intracranial berry, 11 (2)
Aneurysm, intracranial berry, 2 (2)
Aneurysm, intracranial berry, 3 (2)
Aneurysm, intracranial berry, 4 (2)
Aneurysm, intracranial berry, 5 (2)
Aneurysm, intracranial berry, 7 (2)
Aneurysm, intracranial berry, 8 (2)
Aneurysmal bone cysts (2)
Angelman syndrome, 105830 (3)
Angio serpiginosum (2)
Angioedema, hereditary, type III, 610618 (3)
Angioedema, hereditary, types I and II, 106100 (3)
Angiofibroma, somatic (3)
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
Aniridia, 106210 (3)
Anisomastia (2)
Anonychia congenita, 206800 (3)
Anosmia, isolated congenital (2)
Anterior segment anomalies with or without cataract, 602588 (3)
Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)
Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)
Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Anterior segment dysgenesis 4, 137600 (3)
Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)
Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)
Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
Anterior segment dysgenesis 8, 617319 (3)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Frontometaphyseal dysplasia 2, 617137 (3)
Frontonasal dysplasia 1, 136760 (3)
Frontonasal dysplasia 2, 613451 (3)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)
Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)
Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)
Fructose intolerance, hereditary, 229600 (3)
Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Fucosidosis, 230000 (3)
Fucosyltransferase 6 deficiency, 613852 (3)
Fuhrmann syndrome, 228930 (3)
Fumarase deficiency, 606812 (3)
Fundus albipunctatus, 136880 (3)
Fundus albipunctatus, 136880 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
?SERKAL syndrome, 611812 (3)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Aortic aneurysm, familial abdominal 1 (2)
Aortic aneurysm, familial abdominal 2 (2)
Aortic aneurysm, familial abdominal, 4 (2)
Aortic aneurysm, familial thoracic 1 (2)
Aortic aneurysm, familial thoracic 10, 617168 (3)
Aortic aneurysm, familial thoracic 2 (2)
Aortic aneurysm, familial thoracic 4, 132900 (3)
Aortic aneurysm, familial thoracic 6, 611788 (3)
Aortic aneurysm, familial thoracic 7, 613780 (3)
Aortic aneurysm, familial thoracic 8, 615436 (3)
Aortic aneurysm, familial thoracic 9, 616166 (3)
Aortic valve disease 1, 109730 (3)
Aortic valve disease 2, 614823 (3)
Apert syndrome, 101200 (3)
Aphasia, primary progressive, 607485 (3)
Aplasia of lacrimal and salivary glands, 180920 (3)
Aplastic anemia, 609135 (3)
Aplastic anemia, 609135 (3)
ApoA-I and apoC-III deficiency, combined (3)
Apolipoprotein A-II deficiency (3)
Apolipoprotein C-III deficiency, 614028 (3)
Apparent mineralocorticoid excess, 218030 (3)
Argininemia, 207800 (3)
Argininosuccinic aciduria, 207900 (3)
Aromatase deficiency, 613546 (3)
Aromatase excess syndrome, 139300 (3)
Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Arrhythmogenic right ventricular dysplasia 1, 107970 (3)
Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)
Arrhythmogenic right ventricular dysplasia 11, 610476 (3)
Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Arrhythmogenic right ventricular dysplasia 3 (2)
Fundus flavimaculatus, 248200 (3)
GABA-transaminase deficiency, 613163 (3)
GAPO syndrome, 230740 (3)
GLOW syndrome, somatic mosaic, 618272 (3)
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)
GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)
GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
GM2-gangliosidosis, AB variant, 272750 (3)
GM2-gangliosidosis, several forms, 272800 (3)
GRACILE syndrome, 603358 (3)
Gabriele-de Vries syndrome, 617557 (3)
Galactokinase deficiency with cataracts, 230200 (3)
Galactose epimerase deficiency, 230350 (3)
Galactosemia, 230400 (3)
Galactosialidosis, 256540 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
{Hepatic fibrosis susceptibility due to Schistosoma mansoni infection} (2)
{Hepatitis B virus infection, susceptibility to}, 610424 (3)
{Hepatitis B virus, susceptibility to}, 610424 (3)
{Hepatitis B virus, susceptibility to}, 610424 (3)
{Hepatitis C virus infection, response to therapy of}, 609532 (3)
Arrhythmogenic right ventricular dysplasia 4 (2)
Arrhythmogenic right ventricular dysplasia 5, 604400 (3)
Arrhythmogenic right ventricular dysplasia 6 (2)
Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Arrhythmogenic right ventricular dysplasia 9, 609040 (3)
Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
Arterial calcification, generalized, of infancy, 1, 208000 (3)
Arterial calcification, generalized, of infancy, 2, 614473 (3)
Arterial tortuosity syndrome, 208050 (3)
Arteriovenous malformation of the brain, somatic, 108010 (3)
Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3)
Arthrogryposis, distal, type 10 (2)
Arthrogryposis, distal, type 1B, 614335 (3)
Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, type 5D, 615065 (3)
Arthrogryposis, distal, type 8, 178110 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Arts syndrome, 301835 (3)
Asparagine synthetase deficiency, 615574 (3)
Gallbladder disease 1, 600803 (3)
Gallbladder disease 2 (2)
Gallbladder disease 3 (2)
Galloway-Mowat syndrome 1, 251300 (3)
Galloway-Mowat syndrome 2, X-linked, 301006 (3)
Galloway-Mowat syndrome 3, 617729 (3)
Galloway-Mowat syndrome 4, 617730 (3)
Galloway-Mowat syndrome 5, 617731 (3)
Galloway-Mowat syndrome 6, 618347 (3)
Galloway-Mowat syndrome 7, 618348 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, 137215 (3)
Gastric cancer, somatic, 137215 (3)
Gastric cancer, somatic, 613659 (3)
Gastric cancer, somatic, 613659 (3)
Gastric cancer, somatic, 613659 (3)
Gastric cancer, somatic, 613659 (3)
Gastric cancer, somatic, 613659 (3)
{Hepatitis C virus, resistance to}, 609532 (3)
{Hepatitis C virus, response to therapy of}, 609532 (3)
{Hepatitis C virus, susceptibility to}, 609532 (3)
{High density lipoprotein cholesterol level QTL 7} (3)
{High density lipoprotein cholesterol, low serum, 3} (2)
{Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
{Hirschsprung disease, susceptibility to, 2}, 600155 (3)
?Deafness, X-linked 6, 300914 (3)
Aspartate aminotransferase, serum level of, QTL1, 614419 (3)
Aspartylglucosaminuria, 208400 (3)
Asplenia, isolated congenital, 271400 (3)
Asthma and nasal polyps, 208550 (3)
Ataxia with isolated vitamin E deficiency, 277460 (3)
Ataxia, cerebellar, Cayman type, 601238 (3)
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
Ataxia, sensory, 1, autosomal dominant, 608984 (3)
Ataxia-oculomotor apraxia 3, 615217 (3)
Ataxia-oculomotor apraxia 4, 616267 (3)
Ataxia-pancytopenia syndrome, 159550 (3)
Ataxia-telangiectasia, 208900 (3)
Ataxia-telangiectasia-like disorder 1, 604391 (3)
Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type II, 256050 (3)
Atelosteogenesis, type III, 108721 (3)
Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Atransferrinemia, 209300 (3)
Atrial fibrillation, familial, 1 (2)
Atrial fibrillation, familial, 10, 614022 (3)
Atrial fibrillation, familial, 11, 614049 (3)
Atrial fibrillation, familial, 12, 614050 (3)
Atrial fibrillation, familial, 13, 615377 (3)
Atrial fibrillation, familial, 14, 615378 (3)
Atrial fibrillation, familial, 16, 613120 (3)
Atrial fibrillation, familial, 17, 611819 (3)
Atrial fibrillation, familial, 2 (2)
Atrial fibrillation, familial, 3, 607554 (3)
Atrial fibrillation, familial, 4, 611493 (3)
Atrial fibrillation, familial, 6, 612201 (3)
Atrial fibrillation, familial, 7, 612240 (3)
Atrial fibrillation, familial, 8 (2)
Atrial fibrillation, familial, 9, 613980 (3)
Gastric cancer, somatic, 613659 (3)
Gastric cancer, somatic, 613659 (3)
Gastric cancer, somatic, 613659 (3)
Gastroesophageal reflux (2)
Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Gastrointestinal stromal tumor, 606764 (3)
Gastrointestinal stromal tumor, 606764 (3)
Gastrointestinal stromal tumor, familial, 606764 (3)
Gastrointestinal stromal tumor, somatic, 606764 (3)
Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3)
Gaucher disease, atypical, 610539 (3)
Gaucher disease, perinatal lethal, 608013 (3)
Gaucher disease, type I, 230800 (3)
Gaucher disease, type II, 230900 (3)
Gaucher disease, type III, 231000 (3)
Gaucher disease, type IIIC, 231005 (3)
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
{Hirschsprung disease, susceptibility to, 3}, 613711 (3)
{Hirschsprung disease, susceptibility to, 4}, 613712 (3)
{Hirschsprung disease, susceptibility to, 5} (2)
{Hirschsprung disease, susceptibility to, 6} (2)
{Hirschsprung disease, susceptibility to, 7} (2)
{Hirschsprung disease, susceptibility to, 8} (2)
{Hirschsprung disease, susceptibility to, 9} (2)
{Hodgkin disease susceptibility, pseudoautosomal} (2)
{Hodgkin lymphoma, susceptibility to}, 236000 (3)
Atrial septal defect 1 (2)
Atrial septal defect 2, 607941 (3)
Atrial septal defect 3, 614089 (3)
Atrial septal defect 4, 611363 (3)
Atrial septal defect 5, 612794 (3)
Atrial septal defect 6, 613087 (3)
Atrial septal defect 7, with or without AV conduction defects, 108900 (3)
Atrial septal defect 8, 614433 (3)
Atrial septal defect 9, 614475 (3)
Atrial standstill 2, 615745 (3)
Atrial standstill, digenic (GJA5/SCN5A), 108770 (3)
Atrichia with papular lesions, 209500 (3)
Atrioventricular septal defect 3, 600309 (3)
Atrioventricular septal defect 4, 614430 (3)
Atrioventricular septal defect 5, 614474 (3)
Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)
Au-Kline syndrome, 616580 (3)
Auditory neuropathy and optic atrophy, 617717 (3)
Auditory neuropathy, autosomal dominant, 1, 609129 (3)
Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Aural atresia, congenital, 607842 (3)
Auriculocondylar syndrome 1, 602483 (3)
Auriculocondylar syndrome 2, 614669 (3)
Auriculocondylar syndrome 3, 615706 (3)
Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3)
Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Autoimmune lymphoproliferative syndrome, type IB, 601859 (3)
Autoimmune lymphoproliferative syndrome, type II, 603909 (3)
Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Geleophysic dysplasia 1, 231050 (3)
Geleophysic dysplasia 2, 614185 (3)
Geleophysic dysplasia 3, 617809 (3)
Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)
Geniospasm (2)
Genitopatellar syndrome, 606170 (3)
Germ cell tumors, somatic, 273300 (3)
Geroderma osteodysplasticum, 231070 (3)
Gerstmann-Straussler disease, 137440 (3)
Ghosal hematodiaphyseal syndrome, 231095 (3)
Giant axonal neuropathy-1, 256850 (3)
Giant platelet disorder, isolated, 231200 (3)
Gigantism due to GHRF hypersecretion (1)
Gillespie syndrome, 206700 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Gitelman syndrome, 263800 (3)
{Human herpesvirus 8, susceptibility to} (2)
{Hyperapobetalipoproteinemia, susceptibility to} (3)
{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
{Hypercholesterolemia, susceptibility to}, 143890 (3)
{Hypercholesterolemia, susceptibility to}, 143890 (3)
?Deafness, X-linked 7, 301018 (3)
Autoimmune lymphoproliferative syndrome, type V, 616100 (3)
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
Autoinflammation with arthritis and dyskeratosis, 617388 (3)
Autoinflammation with infantile enterocolitis, 616050 (3)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3)
Autoinflammatory syndrome, familial, Behcet-like, 616744 (3)
Autonomic nervous system dysfunction (3)
Avascular necrosis of the femoral head, 608805 (3)
Axenfeld-Rieger syndrome, type 1, 180500 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
Ayme-Gripp syndrome, 601088 (3)
B-cell expansion with NFKB and T-cell anergy, 616452 (3)
B-cell non-Hodgkin lymphoma, high-grade (3)
Bainbridge-Ropers syndrome, 615485 (3)
Baker-Gordon syndrome, 618218 (3)
Baller-Gerold syndrome, 218600 (3)
Bamforth-Lazarus syndrome, 241850 (3)
Band heterotopia, 600348 (3)
Baraitser-Winter syndrome 1, 243310 (3)
Baraitser-Winter syndrome 2, 614583 (3)
Barber-Say syndrome, 209885 (3)
Bardet-Biedl syndrome 1, 209900 (3)
Bardet-Biedl syndrome 10, 615987 (3)
Bardet-Biedl syndrome 12, 615989 (3)
Bardet-Biedl syndrome 16, 615993 (3)
Bardet-Biedl syndrome 17, 615994 (3)
Bardet-Biedl syndrome 2, 615981 (3)
Bardet-Biedl syndrome 21, 617406 (3)
Bardet-Biedl syndrome 3, 600151 (3)
Bardet-Biedl syndrome 4, 615982 (3)
Bardet-Biedl syndrome 5, 615983 (3)
Bardet-Biedl syndrome 6, 605231 (3)
Glanzmann thrombasthenia, 273800 (3)
Glanzmann thrombasthenia, 273800 (3)
Glass syndrome, 612313 (3)
Glaucoma 1, open angle, 1O, 613100 (3)
Glaucoma 1, open angle, E, 137760 (3)
Glaucoma 1, open angle, F, 603383 (3)
Glaucoma 1, open angle, G, 609887 (3)
Glaucoma 1, open angle, H (2)
Glaucoma 1, open angle, I (2)
Glaucoma 1, open angle, M (2)
Glaucoma 1, open angle, N (2)
Glaucoma 1, open angle, P (4)
Glaucoma 1A, primary open angle, 137750 (3)
Glaucoma 1B, primary open angle, adult onset (2)
Glaucoma 1C, primary open angle (2)
Glaucoma 1D, primary open angle (2)
Glaucoma 1K, primary open angle, juvenile-onset (2)
Glaucoma 3, primary congenital, C (2)
Glaucoma 3, primary congenital, D, 613086 (3)
{Hyperlipidemia, familial combined, susceptibility to}, 602491 (3)
{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
{Hypertension, diastolic, resistance to}, 608622 (3)
{Hypertension, essential, salt-sensitive}, 145500 (3)
{Hypertension, essential, susceptibility to, 1}, 145500 (2)
{Hypertension, essential, susceptibility to, 2}, 145500 (2)
{Hypertension, essential, susceptibility to, 3}, 145500 (2)
{Hypertension, essential, susceptibility to, 4}, 145500 (2)
Bardet-Biedl syndrome 7, 615984 (3)
Bardet-Biedl syndrome 8, 615985 (3)
Bardet-Biedl syndrome 9, 615986 (3)
Bare lymphocyte syndrome, type I, 604571 (3)
Bare lymphocyte syndrome, type I, 604571 (3)
Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Barrett esophagus/esophageal adenocarcinoma, 614266 (3)
Bart-Pumphrey syndrome, 149200 (3)
Barth syndrome, 302060 (3)
Bartter syndrome, type 1, 601678 (3)
Bartter syndrome, type 2, 241200 (3)
Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4a, 602522 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
Bartter syndrome, type 5, antenatal, transient, 300971 (3)
Basal cell carcinoma, somatic, 605462 (3)
Basal cell carcinoma, somatic, 605462 (3)
Basal cell carcinoma, somatic, 605462 (3)
Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Basal cell nevus syndrome, 109400 (3)
Basal cell nevus syndrome, 109400 (3)
Basal ganglia calcification, idiopathic, 1, 213600 (3)
Basal ganglia calcification, idiopathic, 2 (2)
Basal ganglia calcification, idiopathic, 4, 615007 (3)
Basal ganglia calcification, idiopathic, 5, 615483 (3)
Basal ganglia calcification, idiopathic, 6, 616413 (3)
{Hypertension, essential, susceptibility to, 5}, 145500 (2)
Glaucoma 3, primary congenital, E, 617272 (3)
Glaucoma 3, primary infantile, B (2)
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Glaucoma, primary open angle, juvenile-onset, 2 (2)
Glioblastoma, somatic, 137800 (3)
Global developmental delay with or without impaired intellectual development, 618330 (3)
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)
Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)
Glomerulopathy with fibronectin deposits 1 (2)
Glomerulopathy with fibronectin deposits 2, 601894 (3)
Glomerulosclerosis, focal segmental, 1, 603278 (3)
Glomerulosclerosis, focal segmental, 2, 603965 (3)
Glomerulosclerosis, focal segmental, 3, 607832 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
Glomerulosclerosis, focal segmental, 6, 614131 (3)
{Hypertension, essential, susceptibility to, 6}, 145500 (2)
{Hypertension, essential, susceptibility to, 7} (2)
{Hypertension, essential, susceptibility to, 8} (2)
{Hypertension, essential, susceptibility to}, 145500 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
{Hypertension, essential}, 145500 (3)
{Hypertension, insulin resistance-related, susceptibility to}, 125853 (3)
Basal ganglia cancification, idiopathic, 7, autosomal recessive, 618317 (3)
Basal laminar drusen, 126700 (3)
Basan syndrome, 129200 (3)
Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Bazex syndrome (2)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Beaulieu-Boycott-Innes syndrome, 613680 (3)
Becker muscular dystrophy, 300376 (3)
Beckwith-Wiedemann syndrome, 130650 (3)
Beckwith-Wiedemann syndrome, 130650 (3)
Beckwith-Wiedemann syndrome, 130650 (3)
Beckwith-Wiedemann syndrome, 130650 (3)
Behr syndrome, 210000 (3)
Bent bone dysplasia syndrome, 614592 (3)
Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
Bernard-Soulier syndrome, type B, 231200 (3)
Bernard-Soulier syndrome, type C, 231200 (3)
Bestrophinopathy, autosomal recessive, 611809 (3)
Beta-2-adrenoreceptor agonist, reduced response to (3)
Beta-ureidopropionase deficiency, 613161 (3)
Bethlem myopathy 1, 158810 (3)
Bethlem myopathy 1, 158810 (3)
Bethlem myopathy 1, 158810 (3)
Bethlem myopathy 2, 616471 (3)
Bietti crystalline corneoretinal dystrophy, 210370 (3)
Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Bile acid malabsorption, primary, 613291 (3)
Bile acid synthesis defect, congenital, 1, 607765 (3)
Bile acid synthesis defect, congenital, 2, 235555 (3)
Bile acid synthesis defect, congenital, 3, 613812 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
Bile acid synthesis defect, congenital, 6, 617308 (3)
Glomerulosclerosis, focal segmental, 7, 616002 (3)
Glomuvenous malformations, 138000 (3)
Glucocorticoid deficiency 2, 607398 (3)
Glucocorticoid deficiency 3 (2)
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
Glucocorticoid resistance, 615962 (3)
Glucose/galactose malabsorption, 606824 (3)
Glutamate formiminotransferase deficiency, 229100 (3)
Glutamine deficiency, congenital, 610015 (3)
Glutaric acidemia IIA, 231680 (3)
Glutaric acidemia IIB, 231680 (3)
Glutaric acidemia IIC, 231680 (3)
Glutaric aciduria III, 231690 (3)
Glutaricaciduria, type I, 231670 (3)
Glutathione synthetase deficiency, 266130 (3)
Glycerol kinase deficiency, 307030 (3)
Glycine N-methyltransferase deficiency, 606664 (3)
{Hypertension, pregnancy-induced}, 189800 (3)
{Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)
{Hypertension, susceptibility to}, 145500 (2)
{Hypertension, susceptibility to}, 145500 (3)
{Hypertriglyceridemia, susceptibility to}, 145750 (3)
{Hypertriglyceridemia, susceptibility to}, 145750 (3)
{Hypertrypsinemia, neonatal} (3)
{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
Biliary cirrhosis, primary, 1 (2)
Biliary cirrhosis, primary, 4 (2)
Biliary cirrhosis, primary, 5 (2)
Biotinidase deficiency, 253260 (3)
Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)
Birt-Hogg-Dube syndrome, 135150 (3)
Bjornstad syndrome, 262000 (3)
Bladder cancer, somatic, 109800 (3)
Bladder cancer, somatic, 109800 (3)
Bladder cancer, somatic, 109800 (3)
Bladder cancer, somatic, 109800 (3)
Blau syndrome, 186580 (3)
Bleeding disorder, east Texas type (2)
Bleeding disorder, platelet-type, 11, 614201 (3)
Bleeding disorder, platelet-type, 15, 615193 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Bleeding disorder, platelet-type, 17, 187900 (3)
Bleeding disorder, platelet-type, 20, 616913 (3)
Bleeding disorder, platelet-type, 21, 617443 (3)
Bleeding disorder, platelet-type, 8, 609821 (3)
Blepharocheilodontic syndrome 1, 119580 (3)
Blepharocheilodontic syndrome 2, 617681 (3)
Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)
Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)
Blood group--Lutheran inhibitor, 111150 (3)
Bloom syndrome, 210900 (3)
Blue cone monochromacy, 303700 (3)
Blue cone monochromacy, 303700 (3)
Bohring-Opitz syndrome, 605039 (3)
Bone marrow failure syndrome 1, 614675 (3)
Bone marrow failure syndrome 2, 615715 (3)
Bone marrow failure syndrome 3, 617052 (3)
Bone marrow failure syndrome 4, 618116 (3)
Glycine encephalopathy with normal serum glycine, 617301 (3)
Glycine encephalopathy, 605899 (3)
Glycine encephalopathy, 605899 (3)
Glycogen storage disease 0, liver, 240600 (3)
Glycogen storage disease 0, muscle, 611556 (3)
Glycogen storage disease II, 232300 (3)
Glycogen storage disease IIIa, 232400 (3)
Glycogen storage disease IIIb, 232400 (3)
Glycogen storage disease IV, 232500 (3)
Glycogen storage disease IXc, 613027 (3)
Glycogen storage disease Ia, 232200 (3)
Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
Glycogen storage disease VI, 232700 (3)
Glycogen storage disease VII, 232800 (3)
Glycogen storage disease X, 261670 (3)
Glycogen storage disease XI, 612933 (3)
Glycogen storage disease XII, 611881 (3)
{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
{Hypospadias 4, X-linked, susceptibility to} (2)
{Hypothalamic hamartomas, somatic}, 241800 (3)
{IgA nephropathy, susceptibility to, 1} (2)
{IgA nephropathy, susceptibility to, 2} (2)
{Inflammatory bowel disease (Crohn disease) 10}, 611081 (3)
{Inflammatory bowel disease (Crohn disease) 19}, 612278 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Inflammatory bowel disease 11} (2)
?Deafness, autosomal dominant 44, 607453 (3)
Bone marrow failure syndrome 5, 618165 (3)
Bone mineral density QTL18, osteoporosis, 300910 (3)
Boomerang dysplasia, 112310 (3)
Bor-Duane hydrocephalus contiguous gene syndrome (4)
Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Bornholm eye disease (2)
Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3)
Bosley-Salih-Alorainy syndrome, 601536 (3)
Bosma arhinia microphthalmia syndrome, 603457 (3)
Bothnia retinal dystrophy, 607475 (3)
Boucher-Neuhauser syndrome, 215470 (3)
Bowen-Conradi syndrome, 211180 (3)
Brachycephaly, trichomegaly, and developmental delay, 617412 (3)
Brachydactyly, type A1, 112500 (3)
Brachydactyly, type A1, B (2)
Brachydactyly, type A1, C, 615072 (3)
Brachydactyly, type A1, D, 616849 (3)
Brachydactyly, type A2, 112600 (3)
Brachydactyly, type A2, 112600 (3)
Brachydactyly, type A2, 112600 (3)
Brachydactyly, type B1, 113000 (3)
Brachydactyly, type B2, 611377 (3)
Brachydactyly, type C, 113100 (3)
Brachydactyly, type D, 113200 (3)
Brachydactyly, type E, 113300 (3)
Brachydactyly, type E2, 613382 (3)
Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
Brachyolmia type 3, 113500 (3)
Bradyopsia, 608415 (3)
Bradyopsia, 608415 (3)
Brain malformations with or without urinary tract defects, 613735 (3)
Brain small vessel disease 2, 614483 (3)
Brain small vessel disease 3, 618360 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
Glycogen storage disease of heart, lethal congenital, 261740 (3)
Diamond-Blackfan anemia 5, 612528 (3)
Glycogen storage disease, type IXa1, 306000 (3)
Glycogen storage disease, type IXa2, 306000 (3)
Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3)
Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3)
Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3)
Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3)
Glycosylphosphatidylinositol biosynthesis defect 18, 618143 (3)
Glycosylphosphatidylinositol deficiency, 610293 (3)
Gnathodiaphyseal dysplasia, 166260 (3)
Goeminne TKCR syndrome (2)
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3)
Goiter, multinodular, 2 (2)
Goiter, multinodular, 3 (2)
Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Gout, PRPS-related, 300661 (3)
Gracile bone dysplasia, 602361 (3)
{Inflammatory bowel disease 12} (2)
{Inflammatory bowel disease 13}, 612244 (3)
{Inflammatory bowel disease 14}, 612245 (3)
{Inflammatory bowel disease 15} (2)
{Inflammatory bowel disease 16} (2)
{Inflammatory bowel disease 17, protection against}, 612261 (3)
{Inflammatory bowel disease 18} (2)
{Inflammatory bowel disease 20} (2)
{Inflammatory bowel disease 21} (2)
Brain tumor-polyposis syndrome 2, 175100 (3)
Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
Branchiooculofacial syndrome, 113620 (3)
Branchiootic syndrome 1, 602588 (3)
Branchiootic syndrome 2 (2)
Branchiootic syndrome 3, 608389 (3)
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)
Branchiootorenal syndrome 2, 610896 (3)
Breast cancer (1)
Breast cancer, somatic, 114480 (3)
Breast cancer, somatic, 114480 (3)
Breast cancer, somatic, 114480 (3)
Breast cancer, somatic, 114480 (3)
Breast cancer, somatic, 114480 (3)
Breast cancer, somatic, 114480 (3)
Breast cancer, somatic, 114480 (3)
Breast cancer, somatic, 114480 (3)
Brittle cornea syndrome 1, 229200 (3)
Brittle cornea syndrome 2, 614170 (3)
Brody myopathy, 601003 (3)
Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
Brooke-Spiegler syndrome, 605041 (3)
Brooks-Wisniewski-Brown syndrome (2)
Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Bruck syndrome 1, 259450 (3)
Bruck syndrome 2, 609220 (3)
Brugada syndrome 1, 601144 (3)
Brugada syndrome 2, 611777 (3)
Brugada syndrome 3, 611875 (3)
Brugada syndrome 4, 611876 (3)
Brugada syndrome 5, 612838 (3)
Grange syndrome, 602531 (3)
Granulomatosis with polyangiitis (2)
Gray platelet syndrome, 139090 (3)
Greenberg skeletal dysplasia, 215140 (3)
Greig cephalopolysyndactyly syndrome, 175700 (3)
Griscelli syndrome, type 1, 214450 (3)
Griscelli syndrome, type 2, 607624 (3)
Griscelli syndrome, type 3, 609227 (3)
Growth hormone deficiency with pituitary anomalies, 182230 (3)
Growth hormone deficiency, isolated partial, 615925 (3)
Growth hormone deficiency, isolated, type IA, 262400 (3)
Growth hormone deficiency, isolated, type IB, 612781 (3)
Growth hormone deficiency, isolated, type II, 173100 (3)
Growth hormone deficiency, isolated, type IV, 618157 (3)
Growth hormone insensitivity with immunodeficiency, 245590 (3)
Growth hormone insensitivity, partial, 604271 (3)
{Inflammatory bowel disease 22} (2)
{Inflammatory bowel disease 23} (2)
{Inflammatory bowel disease 24} (2)
{Inflammatory bowel disease 26} (2)
{Inflammatory bowel disease 27} (2)
{Inflammatory bowel disease 29}, 618077 (3)
{Inflammatory bowel disease 2} (2)
{Inflammatory bowel disease 3} (2)
{Inflammatory bowel disease 4} (2)
{Inflammatory bowel disease 5} (2)
?Deafness, autosomal dominant 66, 616969 (3)
Brugada syndrome 7, 613120 (3)
Brugada syndrome 8, 613123 (3)
Brugada syndrome 9, 616399 (3)
Brunner syndrome, 300615 (3)
Burkitt lymphoma, somatic, 113970 (3)
Burn-McKeown syndrome, 608572 (3)
Buschke-Ollendorff syndrome, 166700 (3)
Butyrylcholinesterase deficiency, 617936 (3)
C syndrome, 211750 (3)
C1q deficiency, 613652 (3)
C1q deficiency, 613652 (3)
C1q deficiency, 613652 (3)
C1s deficiency, 613783 (3)
C2 deficiency, 217000 (3)
C3 deficiency, 613779 (3)
C4B deficiency, 614379 (3)
C4a deficiency, 614380 (3)
C5 deficiency, 609536 (3)
C6 deficiency, 612446 (3)
C7 deficiency, 610102 (3)
C8 deficiency, type I, 613790 (3)
C8 deficiency, type II, 613789 (3)
C9 deficiency, 613825 (3)
CAP myopathy 1, 609284 (3)
CAP myopathy 2, 609285 (3)
CAPOS syndrome, 601338 (3)
CARASIL syndrome, 600142 (3)
CATSHL syndrome, 610474 (3)
CD8 deficiency, familial, 608957 (3)
CDAGS syndrome (2)
CHAND syndrome, 214350 (3)
CHARGE syndrome, 214800 (3)
CHILD syndrome, 308050 (3)
CHIME syndrome, 280000 (3)
CHOPS syndrome, 616368 (3)
Candidiasis, familial, 4, autosomal recessive, 613108 (3)
Candidiasis, familial, 9, 616445 (3)
Capillary malformation-arteriovenous malformation 1, 608354 (3)
Capillary malformation-arteriovenous malformation 2, 618196 (3)
Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3)
Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)
Growth retardation, developmental delay, facial dysmorphism, 612938 (3)
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
Gustavson syndrome (2)
Guttmacher syndrome, 176305 (3)
Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
HARP syndrome, 607236 (3)
HDL deficiency, type 2, 604091 (3)
HELIX syndrome, 617671 (3)
HELLP syndrome, maternal, of pregnancy, 609016 (3)
HMG-CoA lyase deficiency, 246450 (3)
HMG-CoA synthase-2 deficiency, 605911 (3)
HPRT-related gout, 300323 (3)
HSAN2D, autosomal recessive, 243000 (3)
HSD10 mitochondrial disease, 300438 (3)
Haddad syndrome, 209880 (3)
Hailey-Hailey disease, 169600 (3)
{Inflammatory bowel disease 6} (2)
{Inflammatory bowel disease 7} (2)
{Inflammatory bowel disease 8} (2)
{Inflammatory bowel disease 9} (2)
{Influenza, severe, susceptibility to}, 614680 (3)
{Insulin resistance, susceptibility to}, 125853 (3)
{Intelligence QTL1} (2)
{Intelligence QTL3} (2)
{Intelligence QTL3} (2)
{Intervertebral disc disease, susceptibility to}, 603932 (3)
Carbamoylphosphate synthetase I deficiency, 237300 (3)
Carboxypeptidase N deficiency, 212070 (3)
Carcinoid tumor of lung (3)
Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3)
Cardiac valvular defect, developmental, 212093 (3)
Cardiac valvular dysplasia, X-linked, 314400 (3)
Cardiac, facial, and digital anomalies with developmental delay, 618164 (3)
Cardiac-urogenital syndrome, 618280 (3)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Cardiofaciocutaneous syndrome 3, 615279 (3)
Cardiofaciocutaneous syndrome 4, 615280 (3)
Cardiofaciocutaneous syndrome, 115150 (3)
Cardiomyopathy, dilated 1B (2)
Cardiomyopathy, dilated, 1A, 115200 (3)
Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, dilated, 1BB, 612877 (3)
Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, dilated, 1CC, 613122 (3)
Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, dilated, 1DD, 613172 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D (2)
Cardiomyopathy, dilated, 1FF, 613286 (3)
Cardiomyopathy, dilated, 1G, 604145 (3)
Haim-Munk syndrome, 245010 (3)
Hair, curly (2)
Hajdu-Cheney syndrome, 102500 (3)
Hamamy syndrome, 611174 (3)
Hand-foot-uterus syndrome, 140000 (3)
Harderoporphyria, 121300 (3)
Harel-Yoon syndrome, 617183 (3)
Hartnup disorder, 234500 (3)
Hartsfield syndrome, 615465 (3)
Hashimoto thyroiditis (2)
Hawkinsinuria, 140350 (3)
Hay-Wells syndrome, 106260 (3)
Heart and brain malformation syndrome, 616920 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Heimler syndrome 1, 234580 (3)
Heimler syndrome 2, 616617 (3)
{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3)
{Ischemic stroke, susceptibility to}, 601367 (3)
{Kala-azar, susceptibility to, 1} (2)
{Kala-azar, susceptibility to, 2} (2)
{Kala-azar, susceptibility to, 3} (2)
{Kaposi sarcoma, susceptibility to}, 148000 (3)
{Kawasaki disease, susceptibility to}, 611775 (3)
{Kuru, susceptibility to}, 245300 (3)
?Deafness, autosomal dominant 68, 616707 (3)
Cardiomyopathy, dilated, 1GG, 613642 (3)
Cardiomyopathy, dilated, 1H (2)
Cardiomyopathy, dilated, 1HH, 613881 (3)
Cardiomyopathy, dilated, 1I, 604765 (3)
Cardiomyopathy, dilated, 1II, 615184 (3)
Cardiomyopathy, dilated, 1JJ, 615235 (3)
Cardiomyopathy, dilated, 1K (2)
Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, dilated, 1L, 606685 (3)
Cardiomyopathy, dilated, 1LL, 615373 (3)
Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, dilated, 1NN, 615916 (3)
Cardiomyopathy, dilated, 1O, 608569 (3)
Cardiomyopathy, dilated, 1P, 609909 (3)
Cardiomyopathy, dilated, 1Q (2)
Cardiomyopathy, dilated, 1R, 613424 (3)
Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, dilated, 1U, 613694 (3)
Cardiomyopathy, dilated, 1V, 613697 (3)
Cardiomyopathy, dilated, 1W, 611407 (3)
Cardiomyopathy, dilated, 1X, 611615 (3)
Cardiomyopathy, dilated, 1Y, 611878 (3)
Cardiomyopathy, dilated, 1Z, 611879 (3)
Cardiomyopathy, dilated, 2C, 618189 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Cardiomyopathy, familial hypertrophic 27, 618052 (3)
Cardiomyopathy, familial hypertrophic, 192600 (3)
Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Cardiomyopathy, familial restrictive, 1, 115210 (3)
Heinz body anemia, 140700 (3)
Heinz body anemia, 140700 (3)
Heinz body anemias, alpha-, 140700 (3)
Helsmoortel-van der Aa syndrome, 615873 (3)
Hemangioblastoma, cerebellar, somatic (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
Hematuria, benign familial, 141200 (3)
Hematuria, familial benign, 141200 (3)
Heme oxygenase-1 deficiency, 614034 (3)
Hemifacial microsomia (2)
Hemihypertrophy (2)
Hemochromatosis, 235200 (3)
Hemochromatosis, type 2A, 602390 (3)
Hemochromatosis, type 2B, 613313 (3)
Hemochromatosis, type 3, 604250 (3)
Hemochromatosis, type 4, 606069 (3)
Hemoglobin H disease, deletional and nondeletional, 613978 (3)
{Lead poisoning, susceptibility to}, 612740 (3)
{Leanness, inherited} (3)
{Leber optic atrophy, susceptibility to} (2)
{Legionnaire disease, susceptibility to}, 608556 (3)
{Leprosy, paucibacillary type, susceptibility to} (2)
{Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 2} (2)
{Leprosy, susceptibility to, 4}, 610988 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
{Leprosy, susceptibility to, 6} (2)
?Sarcoma, synovial, 300813 (3)
Cardiomyopathy, familial restrictive, 2 (2)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic 6, 600858 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3)
Cardiomyopathy, hypertrophic, 10, 608758 (3)
Cardiomyopathy, hypertrophic, 11, 612098 (3)
Cardiomyopathy, hypertrophic, 12, 612124 (3)
Cardiomyopathy, hypertrophic, 13, 613243 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
Cardiomyopathy, hypertrophic, 15, 613255 (3)
Cardiomyopathy, hypertrophic, 16, 613838 (3)
Cardiomyopathy, hypertrophic, 17, 613873 (3)
Cardiomyopathy, hypertrophic, 18, 613874 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Cardiomyopathy, hypertrophic, 20, 613876 (3)
Cardiomyopathy, hypertrophic, 21 (2)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Cardiomyopathy, hypertrophic, 25, 607487 (3)
Cardiomyopathy, hypertrophic, 3, 115196 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Cardiomyopathy, hypertrophic, 7, 613690 (3)
Cardiomyopathy, hypertrophic, 8, 608751 (3)
Cardiospondylocarpofacial syndrome, 157800 (3)
Carey-Fineman-Ziter syndrome, 254940 (3)
Carney complex variant, 608837 (3)
Carney complex, type 1, 160980 (3)
Carney complex, type II (2)
Carnitine deficiency, systemic primary, 212140 (3)
Carnitine-acylcarnitine translocase deficiency, 212138 (3)
Carnosinemia (2)
Hemoglobin H disease, nondeletional, 613978 (3)
Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)
Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
Hemolytic anemia due to glutathione reductase deficiency (1)
Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)
Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Hemolytic anemia due to phosphofructokinase deficiency (1)
Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3)
Hemolytic anemia, G6PD deficient (favism), 300908 (3)
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
Hemophagocytic lymphohistiocytosis, familial, 1 (2)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Hyperlipoproteinemia, type Ib, 207750 (3)
{Leprosy, susceptibility to}, 246300 (3)
{Leukemia, acute lymphoblastic, susceptibility to, 2} (2)
{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
{Leukemia, acute lymphocytic, susceptibility to, 1} (2)
{Leukemia, acute myeloid, susceptibility to}, 601626 (3)
{Leukemia, acute myeloid}, 601626 (3)
{Leukemia, acute myeloid}, 601626 (3)
Carotid intimal medial thickness (2)
Carotid intimal medial thickness 1, 609338 (3)
Carpal tunnel syndrome, familial, 115430 (3)
Carpenter syndrome 2, 614976 (3)
Carpenter syndrome, 201000 (3)
Cartilage-hair hypoplasia, 250250 (3)
Cat eye syndrome (4)
Cataract 1, multiple types, 116200 (3)
Cataract 10, multiple types, 600881 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, autosomal recessive, 610623 (3)
Cataract 12, multiple types, 611597 (3)
Cataract 13 with adult i phenotype, 116700 (3)
Cataract 14, multiple types, 601885 (3)
Cataract 15, multiple types, 615274 (3)
Cataract 16, multiple types, 613763 (3)
Cataract 17, multiple types, 611544 (3)
Cataract 18, autosomal recessive, 610019 (3)
Cataract 19, multiple types, 615277 (3)
Cataract 2, multiple types, 604307 (3)
Cataract 20, multiple types, 116100 (3)
Cataract 21, multiple types, 610202 (3)
Cataract 22, 609741 (3)
Cataract 23, 610425 (3)
Cataract 24, anterior polar (2)
Cataract 25 (2)
Cataract 26, multiple types (2)
Cataract 27, nuclear progressive (2)
Cataract 29, coralliform (2)
Cataract 3, multiple types, 601547 (3)
Cataract 30, pulverulent, 116300 (3)
Cataract 31, multiple types, 605387 (3)
Cataract 32, multiple types (2)
Cataract 33, multiple types, 611391 (3)
Cataract 34, multiple types, 612968 (3)
Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Hemophilia A, 306700 (3)
Hemophilia B, 306900 (3)
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)
Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Hepatic adenoma, somatic, 142330 (3)
Hepatic lipase deficiency, 614025 (3)
Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Hepatoblastoma, somatic, 114550 (3)
Hepatocellular cancer, somatic, 114550 (3)
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Leukemia, chronic lymphocytic susceptibility to, 4} (2)
{Leukemia, chronic lymphocytic susceptibility to, 5} (2)
{Leukemia, chronic lymphocytic, susceptibility to, 1} (2)
{Leukemia, chronic lymphocytic, susceptibility to, 2} (2)
{Leukemia, chronic lymphocytic, susceptibility to, 3} (2)
{Leukemia, post-chemotherapy, susceptibility to} (3)
{Lewy body dementia, susceptibility to}, 127750 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Deafness, autosomal dominant 70, 616968 (3)
Cataract 35, congenital nuclear (2)
Cataract 36, 613887 (3)
Cataract 37, autosomal dominant (2)
Cataract 38, autosomal recessive, 614691 (3)
Cataract 39, multiple types, autosomal dominant, 615188 (3)
Cataract 4, multiple types, 115700 (3)
Cataract 40, X-linked, 302200 (3)
Cataract 44, 616509 (3)
Cataract 46, juvenile-onset, 212500 (3)
Cataract 47, juvenile, with microcornea, 612018 (3)
Cataract 5, multiple types, 116800 (3)
Cataract 6, multiple types, 116600 (3)
Cataract 7 (2)
Cataract 8, multiple types (2)
Cataract 9, multiple types, 604219 (3)
Cataract with late-onset corneal dystrophy, 106210 (3)
Catel-Manzke syndrome, 616145 (3)
Caudal regression syndrome, 600145 (3)
Cavernous malformations of CNS and retina, 116860 (3)
Cavitary optic disc anomalies, 611543 (3)
Cayler cardiofacial syndrome (2)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Central core disease, 117000 (3)
Central hypoventilation syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
Centronuclear myopathy 1, 160150 (3)
Centronuclear myopathy 2, 255200 (3)
Centronuclear myopathy 5, 615959 (3)
Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3)
Centrotemporal epilepsy (2)
Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Hereditary motor and sensory neuropathy V (2)
Hereditary motor and sensory neuropathy VIA, 601152 (3)
Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
Hermansky-Pudlak syndrome 1, 203300 (3)
Hermansky-Pudlak syndrome 2, 608233 (3)
Hermansky-Pudlak syndrome 3, 614072 (3)
Hermansky-Pudlak syndrome 4, 614073 (3)
Hermansky-Pudlak syndrome 5, 614074 (3)
Hermansky-Pudlak syndrome 6, 614075 (3)
Hermansky-Pudlak syndrome 7, 614076 (3)
{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)
{Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
{Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
{Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
{Low renin hypertension, susceptibility to} (3)
{Lumbar disc degeneration}, 603932 (3)
{Lumbar disc disease, susceptibility to}, 603932 (3)
{Lumbar disc herniation, susceptibility to}, 603932 (3)
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
Cerebellar ataxia, 604290 (3)
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Cerebellofaciodental syndrome, 616202 (3)
Cerebral amyloid angiopathy, 105150 (3)
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)
Cerebral cavernous malformations 3, 603285 (3)
Cerebral cavernous malformations-1, 116860 (3)
Cerebral cavernous malformations-2, 603284 (3)
Cerebral creatine deficiency syndrome 1, 300352 (3)
Cerebral creatine deficiency syndrome 2, 612736 (3)
Cerebral creatine deficiency syndrome 3, 612718 (3)
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Cerebral palsy, ataxic, autosomal recessive (2)
Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
Cerebral palsy, spastic quadriplegic, 3, 617008 (3)
Cerebral-cerebellar-coloboma syndrome, X-linked (2)
Cerebrocostomandibular syndrome, 117650 (3)
Cerebrooculofacioskeletal syndrome 1, 214150 (3)
Cerebrooculofacioskeletal syndrome 3, 616570 (3)
Cerebrooculofacioskeletal syndrome 4, 610758 (3)
Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3)
Diamond-Blackfan anemia 6, 612561 (3)
Hermansky-Pudlak syndrome 8, 614077 (3)
Hernia, congenital diaphragmatic 1 (2)
Hernia, congenital diaphragmatic 2 (2)
Heterotaxy, visceral, 1, X-linked 306955 (3)
Heterotaxy, visceral, 2, autosomal, 605376 (3)
Heterotaxy, visceral, 4, autosomal, 613751 (3)
Heterotaxy, visceral, 5, 270100 (3)
Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
Heterotaxy, visceral, 7, autosomal, 616749 (3)
Heterotaxy, visceral, 8, autosomal, 617205 (3)
Heterotopia, periventricular, 1, 300049 (3)
High density lipoprotein cholesterol level QTL14 (2)
Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)
Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Holocarboxylase synthetase deficiency, 253270 (3)
Holoprosencephaly 1 (2)
Holoprosencephaly 11, 614226 (3)
{Lumbar disc herniation, susceptibility to}, 603932 (3)
{Lung cancer susceptibility 2}, 612052 (3)
{Lung cancer susceptibility 2}, 612052 (3)
{Lung cancer susceptibility 3} (2)
{Lung cancer susceptibility 4} (2)
{Lung cancer susceptibility 5} (2)
{Lung cancer susceptibility} (2)
{Lung cancer, protection against, in smokers} (3)
{Lung cancer, protection against}, 211980 (3)
?Deafness, autosomal dominant 71, 617605 (3)
Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Cerebrotendinous xanthomatosis, 213700 (3)
Cerebrovascular disease, occlusive (3)
Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Ceroid lipofuscinosis, neuronal, 11, 614706 (3)
Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3)
Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Ceroid lipofuscinosis, neuronal, 6, 601780 (3)
Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3)
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3)
Cervical cancer, somatic, 603956 (3)
Cervical carcinoma (2)
Chanarin-Dorfman syndrome, 275630 (3)
Char syndrome, 169100 (3)
Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3)
Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)
Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)
Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3)
Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3)
Charcot-Marie-Tooth disease, axonal, type 2H (2)
Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)
Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Holoprosencephaly 2, 157170 (3)
Holoprosencephaly 3, 142945 (3)
Holoprosencephaly 4, 142946 (3)
Holoprosencephaly 5, 609637 (3)
Holoprosencephaly 6 (2)
Holoprosencephaly 7, 610828 (3)
Holoprosencephaly 8 (2)
Holoprosencephaly 9, 610829 (3)
Holt-Oram syndrome, 142900 (3)
Homocysteine plasma level (2)
Homocysteine, total plasma, elevated (3)
Homocystinuria due to MTHFR deficiency, 236250 (3)
Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Homocystinuria, cblD type, variant 1, 277410 (3)
Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Huntington disease, 143100 (3)
Huntington disease-like 1, 603218 (3)
Huntington disease-like 2, 606438 (3)
Huntington disease-like 3 (2)
{Lung cancer, resistance to}, 211980 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Lupus nephritis, susceptibility to}, 152700 (3)
{Lymphoma, follicular, somatic}, 605027 (3)
{Macroglobulinemia, Waldenstrom, susceptibility to, 1} (2)
{Macroglobulinemia, Waldenstrom, susceptibility to, 2} (2)
{Macular degeneration, age-related, 11}, 611953 (3)
Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3)
Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3)
Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3)
Charcot-Marie-Tooth disease, dominant intermediate A (2)
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)
Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3)
Charcot-Marie-Tooth disease, foot deformity of, 192950 (3)
Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1B, 118200 (3)
Charcot-Marie-Tooth disease, type 1C, 601098 (3)
Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Charcot-Marie-Tooth disease, type 1F, 607734 (3)
Charcot-Marie-Tooth disease, type 2B, 600882 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Huriez syndrome, 181600 (3)
Hutchinson-Gilford progeria, 176670 (3)
Hyaline fibromatosis syndrome, 228600 (3)
Hydatidiform mole, recurrent, 1, 231090 (3)
Hydatidiform mole, recurrent, 2, 614293 (3)
Hydranencephaly with abnormal genitalia, 300215 (3)
Hydrocephalus due to aqueductal stenosis, 307000 (3)
Hydrocephalus with Hirschsprung disease, 307000 (3)
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)
Hydrocephalus, congenital, 1, 236600 (3)
Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)
Hydrolethalus syndrome, 236680 (3)
Hyper-IgD syndrome, 260920 (3)
Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)
{Macular degeneration, age-related, 12}, 613784 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
{Macular degeneration, age-related, 1}, 603075 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
?Deafness, autosomal dominant 72, 617606 (3)
Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Charcot-Marie-Tooth disease, type 2E, 607684 (3)
Charcot-Marie-Tooth disease, type 2I, 607677 (3)
Charcot-Marie-Tooth disease, type 2J, 607736 (3)
Charcot-Marie-Tooth disease, type 2R, 615490 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Charcot-Marie-Tooth disease, type 4H, 609311 (3)
Charcot-Marie-Tooth disease, type 4J, 611228 (3)
Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)
Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 (2)
Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 (4)
Chediak-Higashi syndrome, 214500 (3)
Cherubism, 118400 (3)
Chilblain lupus, 610448 (3)
Chitayat syndrome, 617180 (3)
Choanal atresia and lymphedema, 613611 (3)
Cholangitis, primary sclerosing (2)
Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)
Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Cholestasis, progressive familial intrahepatic 2, 601847 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hyper-IgE recurrent infection syndrome, 147060 (3)
Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
Hyperaldosteronism, familial, type II, 605635 (3)
Hyperaldosteronism, familial, type III, 613677 (3)
Hyperaldosteronism, familial, type IV, 617027 (3)
Hyperalphalipoproteinemia, 143470 (3)
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
Hyperbilirubinemia, familial transient neonatal, 237900 (3)
Hyperbiliverdinemia, 614156 (3)
Hypercalcemia, infantile, 1, 143880 (3)
Hypercalcemia, infantile, 2, 616963 (3)
Hypercalciuria, absorptive (2)
{Macular degeneration, age-related, 4}, 610698 (3)
{Macular degeneration, age-related, 7}, 610149 (3)
{Macular degeneration, age-related, 8}, 613778 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
{Macular degeneration, age-related, neovascular type}, 610149 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
Cholestasis, progressive familial intrahepatic, 5, 617049 (3)
Cholestasis-lymphedema syndrome (2)
Cholesteryl ester storage disease, 278000 (3)
Chondrocalcinosis 2, 118600 (3)
Chondrocalcinosis with early-onset osteoarthritis (2)
Chondrodysplasia punctata, X-linked dominant, 302960 (3)
Chondrodysplasia punctata, X-linked recessive, 302950 (3)
Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3)
Chondrodysplasia, Blomstrand type, 215045 (3)
Chondrodysplasia, Grebe type, 200700 (3)
Chondrosarcoma, 215300 (3)
Chondrosarcoma, extraskeletal myxoid, 612237 (1)
Chondrosarcoma, extraskeletal myxoid, 612237 (3)
Chorea, hereditary benign, 118700 (3)
Choreoacanthocytosis, 200150 (3)
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)
Chorioretinal atrophy, progressive bifocal (2)
Choroidal dystrophy, central areolar 1 (2)
Choroidal dystrophy, central areolar 2, 613105 (3)
Choroideremia, 303100 (3)
Choroideremia, deafness, and mental retardation (4)
Chromosome 10q22.3-q23.2 deletion syndrome (4)
Chromosome 10q26 deletion syndrome (4)
Chromosome 11p13 deletion syndrome, distal, 616902 (4)
Chromosome 11p15-p14 deletion syndrome (4)
Chromosome 13q14 deletion syndrome (4)
Chromosome 14q11-q22 deletion syndrome (4)
Chromosome 15q11.2 deletion syndrome (4)
Chromosome 15q13.3 microdeletion syndrome (4)
Chromosome 15q14 deletion syndrome (4)
Chromosome 15q25 deletion syndrome (4)
Chromosome 15q26-qter deletion syndrome (4)
Chromosome 16p11.2 deletion syndrome, 220kb (4)
Hyperchlorhidrosis, isolated, 143860 (3)
Mannosidosis, beta, 248510 (3)
Hypercholanemia, familial, 607748 (3)
Hypercholanemia, familial, 607748 (3)
Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)
Hypercholesterolemia, familial, 143890 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Hyperchylomicronemia, late-onset, 144650 (3)
Hyperekplexia 1, 149400 (3)
Hyperekplexia 2, 614619 (3)
Hyperekplexia 3, 614618 (3)
Hyperekplexia 4, 618011 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
Hyperferritinemia-cataract syndrome, 600886 (3)
Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)
Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)
Hyperglycinuria, 138500 (3)
Hyperglycinuria, 138500 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
{Major affective disorder 1} (2)
{Major affective disorder 3, early onset} (2)
{Major affective disorder 5} (2)
{Major affective disorder 6} (2)
{Major affective disorder-7, susceptibility to}, 612371 (3)
{Major affective disorder-8, susceptibility to} (2)
{Major affective disorder-9, susceptibility to} (2)
{Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)
Chromosome 16p11.2 deletion syndrome, 593kb (4)
Chromosome 16p11.2 duplication syndrome (4)
Chromosome 16p12.1 deletion syndrome, 520kb (4)
Chromosome 16p12.2-p11.2 deletion syndrome (4)
Chromosome 16p13.2 deletion syndrome (4)
Chromosome 16p13.3 deletion syndrome (4)
Chromosome 16p13.3 duplication syndrome (4)
Chromosome 16q22 deletion syndrome (4)
Chromosome 17p13.1 deletion syndrome (4)
Chromosome 17p13.3 duplication syndrome (4)
Chromosome 17q11.2 deletion syndrome, 1.4Mb (4)
Chromosome 17q12 deletion syndrome (4)
Chromosome 17q12 duplication syndrome (4)
Chromosome 17q21.31 duplication syndrome (4)
Chromosome 17q23.1-q23.2 deletion syndrome (4)
Chromosome 17q23.1-q23.2 duplication syndrome (4)
Chromosome 18 pericentric inversion (4)
Chromosome 18p deletion syndrome (4)
Chromosome 18q deletion syndrome (4)
Chromosome 19p13.13 deletion syndrome (4)
Chromosome 19p13.13 duplication syndrome (4)
Chromosome 19q13.11 deletion syndrome, distal (4)
Chromosome 19q13.11 deletion syndrome, proximal (4)
Chromosome 1p35 deletion syndrome (4)
Chromosome 1p36 deletion syndrome (4)
Chromosome 1q21.1 deletion syndrome (4)
Chromosome 1q21.1 duplication syndrome (4)
Chromosome 1q41-q42 deletion syndrome (4)
Chromosome 22q11.2 deletion syndrome, distal (4)
Chromosome 22q11.2 microduplication syndrome (4)
Chromosome 22q13 duplication syndrome, 615538 (4)
Chromosome 2p12-p11.2 deletion syndrome (4)
Chromosome 2p16.1-p15 deletion syndrome (4)
Hyperglycinuria, 138500 (3)
Hyperhidrosis palmaris et plantaris (2)
Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3)
Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3)
Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3)
Hyperlipidemia, combined, 2 (2)
Hyperlipoproteinemia, type 1D, 615947 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Hyperlysinemia, 238700 (3)
Hypermanganesemia with dystonia 1, 613280 (3)
{Major depressive disorder, response to citalopram therapy in}, 608516 (3)
{Malaria, cerebral, reduced risk of}, 611162 (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
{Malaria, intensity of infection} (2)
{Malaria, mild, susceptibility to}, 609148 (3)
{Malaria, protection against}, 611162 (3)
{Malaria, resistance to}, 611162 (3)
Chromosome 2q31.1 duplication syndrome (4)
Chromosome 2q31.2 deletion syndrome (4)
Chromosome 2q37 deletion syndrome (4)
Chromosome 3q13.31 deletion syndrome (4)
Chromosome 3q29 microdeletion syndrome (4)
Chromosome 3q29 microduplication syndrome (4)
Chromosome 4q21 deletion syndrome (4)
Chromosome 4q32.1-q32.2 triplication syndrome (4)
Chromosome 5p13 duplication syndrome (4)
Chromosome 5q12 deletion syndrome (4)
Chromosome 5q14.3 deletion syndrome, 613443 (4)
Chromosome 6pter-p24 deletion syndrome (4)
Chromosome 6q11-q14 deletion syndrome (4)
Chromosome 6q25-q25 deletion syndrome (4)
Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb (4)
Chromosome 7q11.23 duplication syndrome (4)
Chromosome 8p11 myeloproliferative syndrome (4)
Chromosome 8q21.11 deletion syndrome (4)
Chromosome 9p deletion syndrome (4)
Chromosome Xp11.23-p11.22 duplication syndrome (4)
Chromosome Xp11.3 deletion syndrome (4)
Chromosome Xp21 deletion syndrome (4)
Chromosome Xq26.3 duplication syndrome (4)
Chromosome Xq27.3-q28 duplication syndrome (4)
Chromosome Xq28 duplication syndrome (4)
Chronic atrial and intestinal dysrhythmia, 616201 (3)
Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Chronic granulomatous disease, X-linked, 306400 (3)
Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Chudley-McCullough syndrome, 604213 (3)
Chylomicron retention disease, 246700 (3)
Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Ciliary dyskinesia, primary, 10, 612518 (3)
Hypermanganesemia with dystonia 2, 617013 (3)
Hypermethioninemia due to adenosine kinase deficiency, 614300 (3)
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Hyperostosis, endosteal, 144750 (3)
Hyperoxaluria, primary, type 1, 259900 (3)
Hyperoxaluria, primary, type II, 260000 (3)
Hyperoxaluria, primary, type III, 613616 (3)
Hyperparathyroidism 3 (2)
Hyperparathyroidism 4, 617343 (3)
Hyperparathyroidism, familial primary, 145000 (3)
Hyperparathyroidism, neonatal, 239200 (3)
Hyperparathyroidism, transient neonatal, 618188 (3)
Hyperparathyroidism-jaw tumor syndrome, 145001 (3)
Hypotrichosis 11, 615059 (3)
{Malaria, resistance to}, 611162 (3)
{Malaria, resistance to}, 611162 (3)
{Malaria, resistance to}, 611162 (3)
{Malaria, resistance to}, 611162 (3)
{Malaria, resistance to}, 611162 (3)
{Malaria, severe, resistance to}, 611162 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Malaria, susceptibility to}, 611162 (3)
{Malaria, vivax, protection against}, 611162 (3)
Ciliary dyskinesia, primary, 11, 612649 (3)
Ciliary dyskinesia, primary, 12, 612650 (3)
Ciliary dyskinesia, primary, 13, 613193 (3)
Ciliary dyskinesia, primary, 14, 613807 (3)
Ciliary dyskinesia, primary, 15, 613808 (3)
Ciliary dyskinesia, primary, 16, 614017 (3)
Ciliary dyskinesia, primary, 17, 614679 (3)
Ciliary dyskinesia, primary, 18, 614874 (3)
Ciliary dyskinesia, primary, 19, 614935 (3)
Ciliary dyskinesia, primary, 2, 606763 (3)
Ciliary dyskinesia, primary, 20, 615067 (3)
Ciliary dyskinesia, primary, 21, 615294 (3)
Ciliary dyskinesia, primary, 22, 615444 (3)
Ciliary dyskinesia, primary, 23, 615451 (3)
Ciliary dyskinesia, primary, 24, 615481 (3)
Ciliary dyskinesia, primary, 25, 615482 (3)
Ciliary dyskinesia, primary, 26, 615500 (3)
Ciliary dyskinesia, primary, 27, 615504 (3)
Ciliary dyskinesia, primary, 28, 615505 (3)
Ciliary dyskinesia, primary, 29, 615872 (3)
Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Ciliary dyskinesia, primary, 30, 616037 (3)
Ciliary dyskinesia, primary, 32, 616481 (3)
Ciliary dyskinesia, primary, 33, 616726 (3)
Ciliary dyskinesia, primary, 34, 617091 (3)
Ciliary dyskinesia, primary, 35, 617092 (3)
Ciliary dyskinesia, primary, 36, X-linked, 300991 (3)
Ciliary dyskinesia, primary, 38, 618063 (3)
Ciliary dyskinesia, primary, 39, 618254 (3)
Ciliary dyskinesia, primary, 4 (2)
Ciliary dyskinesia, primary, 40, 618300 (3)
Ciliary dyskinesia, primary, 5, 608647 (3)
Ciliary dyskinesia, primary, 6, 610852 (3)
Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Hyperphenylalaninemia, BH4-deficient, B, 233910 (3)
Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3)
Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
Hyperphosphatasia with mental retardation syndrome 6, 616809 (3)
Hyperpigmentation with or without hypopigmentation, 145250 (3)
Hyperpigmentation, familial progressive, 1 (2)
Hyperproinsulinemia, 616214 (3)
Hyperprolactinemia, 615555 (3)
Hyperprolinemia, type I, 239500 (3)
Hyperprolinemia, type II, 239510 (3)
{Male germ cell tumor, somatic}, 273300 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
{Malignant hyperthermia susceptibility 2} (2)
{Malignant hyperthermia susceptibility 3} (2)
{Malignant hyperthermia susceptibility 4} (2)
{Malignant hyperthermia susceptibility 5}, 601887 (3)
{Malignant hyperthermia susceptibility 6} (2)
{Maturity-onset diabetes of the young, type 14}, 616511 (3)
?Sarcoma, synovial, 300813 (3)
Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Ciliary dyskinesia, primary, 8 (2)
Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Cirrhosis due to liver phosphorylase kinase deficiency (3)
Cirrhosis, cryptogenic, 215600 (3)
Cirrhosis, cryptogenic, 215600 (3)
Citrullinemia, 215700 (3)
Citrullinemia, adult-onset type II, 603471 (3)
Citrullinemia, type II, neonatal-onset, 605814 (3)
Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
Cleft palate with ankyloglossia, 303400 (3)
Cleft palate, cardiac defects, and mental retardation, 600987 (3)
Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)
Cleidocranial dysplasia, 119600 (3)
Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3)
Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3)
Clopidogrel, impaired responsiveness to, 609535 (3)
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Cockayne syndrome, type A, 216400 (3)
Cockayne syndrome, type B, 133540 (3)
Cocoon syndrome, 613630 (3)
Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Coenzyme Q10 deficiency, primary, 2, 614651 (3)
Coenzyme Q10 deficiency, primary, 3, 614652 (3)
Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Coenzyme Q10 deficiency, primary, 5, 614654 (3)
Coenzyme Q10 deficiency, primary, 6, 614650 (3)
Coenzyme Q10 deficiency, primary, 7, 616276 (3)
Coffin-Lowry syndrome, 303600 (3)
Coffin-Siris syndrome 1, 135900 (3)
Hypertelorism, Teebi type, 145420 (3)
Hypertelorism, preauricular sinus, punctal pits, and deafness (2)
Hypertension and brachydactyly syndrome, 112410 (3)
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Hypertension, essential, 145500 (3)
Hypertensive nephropathy (2)
Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (4)
Hypertrichosis, congenital generalized (4)
Hypertrichotic osteochondrodysplasia, 239850 (3)
Hypertriglyceridemia, transient infantile, 614480 (3)
Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)
Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
{Meconium ileus in cystic fibrosis, susceptibility to} (2)
{Medulloblastoma}, 155255 (3)
{Melanoma, cutaneous malignant, 1} (2)
{Melanoma, cutaneous malignant, 2}, 155601 (3)
{Melanoma, cutaneous malignant, 3}, 609048 (3)
{Melanoma, cutaneous malignant, 4} (2)
{Melanoma, cutaneous malignant, 5}, 613099 (3)
{Melanoma, cutaneous malignant, 6}, 613972 (3)
{Melanoma, cutaneous malignant, 7} (2)
?Deafness, autosomal dominant 74, 618140 (3)
Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)
ABCD syndrome, 600501 (3)
Hyperuricemic nephropathy, familial juvenile 2, 613092 (3)
ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
Hyperuricemic nephropathy, familial juvenile, 3 (2)
ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
Hyperuricemic nephropathy, familial juvenile, 4, 617056 (3)
ADULT syndrome, 103285 (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
AICA-ribosiduria due to ATIC deficiency, 608688 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
Aarskog-Scott syndrome, 305400 (3)
Hypoalphalipoproteinemia, 604091 (3)
Abdominal obesity-metabolic syndrome (2)
Hypobetalipoproteinemia, 615558 (3)
Abdominal obesity-metabolic syndrome 1 (2)
Hypobetalipoproteinemia, familial, 2, 605019 (3)
Abdominal obesity-metabolic syndrome 3, 615812 (3)
Hypocalcemia, autosomal dominant 2, 615361 (3)
Abetalipoproteinemia, 200100 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Ablepharon-macrostomia syndrome, 200110 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Acampomelic campomelic dysplasia, 114290 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
Acatalasemia, 614097 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
Acetyl-CoA carboxylase deficiency, 613933 (1)
Hypocalciuric hypercalcemia, type III, 600740 (3)
Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Hypochondroplasia, 146000 (3)
Acheiropody, 200500 (3)
Hypodysfibrinogenemia, 616004 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
Achondrogenesis Ib, 600972 (3)
{Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
Achondrogenesis, type IA, 200600 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3)
Achondroplasia, 100800 (3)
{Melanoma, uveal, susceptibility to, 1} (2)
Achromatopsia 2, 216900 (3)
{Melanoma, uveal, susceptibility to, 2} (2)
Achromatopsia 3, 262300 (3)
{Melioidosis, susceptibility to}, 615557 (3)
Achromatopsia 4, 613856 (3)
{Menarche, age at, QTL2} (2)
Achromatopsia 6, 610024 (3)
{Menarche, age at, QTL3} (2)
Achromatopsia 7, 616517 (3)
Acid-labile subunit, deficiency of, 615961 (3)
Acne inversa, familial, 1, 142690 (3)
Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3)
Acrocallosal syndrome, 200990 (3)
Acrocapitofemoral dysplasia, 607778 (3)
Acrodermatitis enteropathica, 201100 (3)
Acrodysostosis 1, with or without hormone resistance, 101800 (3)
Acrodysostosis 2, with or without hormone resistance, 614613 (3)
Acrofacial dysostosis 1, Nager type, 154400 (3)
Coffin-Siris syndrome 2, 614607 (3)
Coffin-Siris syndrome 3, 614608 (3)
Coffin-Siris syndrome 4, 614609 (3)
Coffin-Siris syndrome 5, 616938 (3)
Coffin-Siris syndrome 6, 617808 (3)
Coffin-Siris syndrome 7, 618027 (3)
Coffin-Siris syndrome 8, 618362 (3)
Cognitive impairment with or without cerebellar ataxia, 614306 (3)
Cohen syndrome, 216550 (3)
Cohen-Gibson syndrome, 617561 (3)
Cold-induced sweating syndrome 1, 272430 (3)
Cold-induced sweating syndrome 2, 610313 (3)
Cold-induced sweating syndrome 3, 617055 (3)
Cole disease, 615522 (3)
Cole-Carpenter syndrome 1, 112240 (3)
Cole-Carpenter syndrome 2, 616294 (3)
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3)
Colon cancer, advanced, somatic, 114500 (3)
Colon cancer, somatic, 114500 (3)
Colon cancer, somatic, 114500 (3)
Colon cancer, somatic, 114500 (3)
Colorblindness, deutan, 303800 (3)
Colorblindness, protan, 303900 (3)
Colorblindness, tritan, 190900 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
Colorectal cancer with chromosomal instability, somatic (3)
Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)
Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)
Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
Hypodysfibrinogenemia, congenital, 616004 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)
Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)
Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)
Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)
Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)
Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3)
Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
Hypotrichosis 12, 615885 (3)
{Menarche, age at, QTL} (2)
{Meningioma, familial, susceptibility to}, 607174 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
{Meningioma}, 607174 (3)
{Menopause, natural, age at, QTL1} (2)
{Menopause, natural, age at, QTL2} (2)
{Menopause, natural, age at, QTL4} (2)
{Mental health wellness-1} (2)
{Mental health wellness-2} (2)
Colorectal cancer, somatic (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Colorectal cancer, somatic, 114500 (3)
Combined C6/C7 deficiency (3)
Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Combined SAP deficiency, 611721 (3)
Combined cellular and humoral immune defects with granulomas, 233650 (3)
Combined cellular and humoral immune defects with granulomas, 233650 (3)
Combined factor V and VIII deficiency, 227300 (3)
Combined hyperlipidemia, familial, 144250 (3)
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
Combined immunodeficiency, X-linked, moderate, 312863 (3)
Combined malonic and methylmalonic aciduria, 614265 (3)
Combined oxidative phosphorylation deficiency 1, 609060 (3)
Combined oxidative phosphorylation deficiency 10, 614702 (3)
Combined oxidative phosphorylation deficiency 11, 614922 (3)
Combined oxidative phosphorylation deficiency 12, 614924 (3)
Combined oxidative phosphorylation deficiency 13, 614932 (3)
Combined oxidative phosphorylation deficiency 14, 614946 (3)
Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3)
Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)
Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3)
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)
Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3)
Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)
Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)
Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Hypomagnesemia 1, intestinal, 602014 (3)
Hypomagnesemia 2, renal, 154020 (3)
{Mesothelioma, somatic}, 156240 (3)
{Metabolic syndrome, protection against}, 605552 (3)
{Microvascular complications of diabetes 1}, 603933 (3)
{Microvascular complications of diabetes 2}, 612623 (3)
{Microvascular complications of diabetes 3}, 612624 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
{Microvascular complications of diabetes 5}, 612633 (3)
{Microvascular complications of diabetes 6}, 612634 (3)
?Deafness, autosomal recessive 101, 615837 (3)
Combined oxidative phosphorylation deficiency 15, 614947 (3)
Combined oxidative phosphorylation deficiency 17, 615440 (3)
Combined oxidative phosphorylation deficiency 18, 615578 (3)
Combined oxidative phosphorylation deficiency 2, 610498 (3)
Combined oxidative phosphorylation deficiency 20, 615917 (3)
Combined oxidative phosphorylation deficiency 23, 616198 (3)
Combined oxidative phosphorylation deficiency 24, 616239 (3)
Combined oxidative phosphorylation deficiency 26, 616539 (3)
Combined oxidative phosphorylation deficiency 27, 616672 (3)
Combined oxidative phosphorylation deficiency 28, 616794 (3)
Combined oxidative phosphorylation deficiency 3, 610505 (3)
Combined oxidative phosphorylation deficiency 30, 616974 (3)
Combined oxidative phosphorylation deficiency 31, 617228 (3)
Combined oxidative phosphorylation deficiency 32, 617664 (3)
Combined oxidative phosphorylation deficiency 33, 617713 (3)
Combined oxidative phosphorylation deficiency 35, 617873 (3)
Combined oxidative phosphorylation deficiency 36, 617950 (3)
Combined oxidative phosphorylation deficiency 37, 618329 (3)
Combined oxidative phosphorylation deficiency 4, 610678 (3)
Combined oxidative phosphorylation deficiency 5, 611719 (3)
Combined oxidative phosphorylation deficiency 6, 300816 (3)
Combined oxidative phosphorylation deficiency 7, 613559 (3)
Combined oxidative phosphorylation deficiency 8, 614096 (3)
Combined oxidative phosphorylation deficiency 9, 614582 (3)
Complement component 4, partial deficiency of, 120790 (3)
Complement factor D deficiency, 613912 (3)
Complement factor H deficiency, 609814 (3)
Complement factor I deficiency, 610984 (3)
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3)
Cone dystrophy 4, 613093 (3)
Hypomagnesemia 3, renal, 248250 (3)
Hypomagnesemia 4, renal, 611718 (3)
Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
Hypomagnesemia 6, renal, 613882 (3)
Hypomagnesemia, seizures, and mental retardation 2, 618314 (3)
Hypomagnesemia, seizures, and mental retardation, 616418 (3)
Hypomyelinating neuropathy, congenital, 1, 605253 (3)
Hypomyelinating neuropathy, congenital, 2, 618184 (3)
Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Hypoparathyroidism, X-linked (4)
Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
Hypoparathyroidism, familial isolated, 146200 (3)
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Migraine with aura, susceptibility to, 7} (2)
{Migraine with aura, susceptibility to, 9} (2)
{Migraine with or without aura, susceptibility to, 1} (2)
{Migraine with or without aura, susceptibility to, 3} (2)
{Migraine with or without aura, susceptibility to, 5} (2)
{Migraine with or without aura, susceptibility to, 6} (2)
{Migraine without aura, susceptibility to, 4} (2)
{Migraine without aura, susceptibility to}, 157300 (3)
Cone dystrophy, progressive X-linked, 2 (2)
Cone dystrophy-3, 602093 (3)
Cone-rod dystrophy 10, 610283 (3)
Cone-rod dystrophy 11, 610381 (3)
Cone-rod dystrophy 12, 612657 (3)
Cone-rod dystrophy 13, 608194 (3)
Cone-rod dystrophy 14, 602093 (3)
Cone-rod dystrophy 15, 613660 (3)
Cone-rod dystrophy 16, 614500 (3)
Cone-rod dystrophy 17 (2)
Cone-rod dystrophy 18, 615374 (3)
Cone-rod dystrophy 19, 615860 (3)
Cone-rod dystrophy 20, 615973 (3)
Cone-rod dystrophy 21, 616502 (3)
Cone-rod dystrophy 3, 604116 (3)
Cone-rod dystrophy 5, 600977 (3)
Cone-rod dystrophy 6, 601777 (3)
Cone-rod dystrophy 7, 603649 (3)
Cone-rod dystrophy 8 (2)
Cone-rod dystrophy 9, 612775 (3)
Cone-rod dystrophy and hearing loss 2, 618358 (3)
Cone-rod dystrophy and hearing loss, 617236 (3)
Cone-rod dystrophy, 604393 (3)
Cone-rod dystrophy, X-linked, 1, 304020 (3)
Cone-rod dystrophy, X-linked, 3, 300476 (3)
Cone-rod retinal dystrophy-1 (2)
Cone-rod retinal dystrophy-2, 120970 (3)
Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
Congenital anomalies of kidney and urinary tract 1, 610805 (3)
Congenital anomalies of kidney and urinary tract 2, 143400 (3)
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3)
Congenital arthrogryposis with anterior horn cell disease, 611890 (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)
Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Hypophosphatemic rickets and hyperparathyroidism (2)
Hypophosphatemic rickets with hypercalciuria, 241530 (3)
Hypophosphatemic rickets, 300554 (3)
Hypophosphatemic rickets, AR, 241520 (3)
Hypophosphatemic rickets, X-linked dominant, 307800 (3)
Hypophosphatemic rickets, autosomal dominant, 193100 (3)
Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Hypoplastic left heart syndrome 1, 241550 (3)
Hypoplastic left heart syndrome 2, 614435 (3)
Hypoplastic or aplastic tibia with polydactyly, 188740 (3)
Hypoprothrombinemia, 613679 (3)
Hypospadias 1, X-linked, 300633 (3)
{Migraine, familial hemiplegic, 4} (2)
{Migraine, familial typical, susceptibility to, 2} (2)
{Migraine, resistance to}, 157300 (3)
{Migraine, susceptibility to, 8} (2)
{Migraine, susceptibility to}, 157300 (3)
{Migraine, with or without aura, susceptibility to, 12} (2)
{Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
{Moyamoya disease 2, susceptibility to}, 607151 (3)
{Multiple myeloma, resistance to}, 254500 (3)
Congenital bilateral absence of vas deferens, X-linked, 300985 (3)
Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)
Congenital disorder of deglycosylation, 615273 (3)
Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
Congenital disorder of glycosylation with defective fucosylation 2, 618324 (3)
Congenital disorder of glycosylation, type IIa, 212066 (3)
Congenital disorder of glycosylation, type IIb, 606056 (3)
Congenital disorder of glycosylation, type IIc, 266265 (3)
Congenital disorder of glycosylation, type IId, 607091 (3)
Congenital disorder of glycosylation, type IIe, 608779 (3)
Congenital disorder of glycosylation, type IIf, 603585 (3)
Congenital disorder of glycosylation, type IIg, 611209 (3)
Congenital disorder of glycosylation, type IIh, 611182 (3)
Congenital disorder of glycosylation, type IIi, 613612 (3)
Congenital disorder of glycosylation, type IIj, 613489 (3)
Congenital disorder of glycosylation, type IIk, 614727 (3)
Congenital disorder of glycosylation, type IIl, 614576 (3)
Congenital disorder of glycosylation, type IIm, 300896 (3)
Congenital disorder of glycosylation, type IIn, 616721 (3)
Congenital disorder of glycosylation, type IIo, 616828 (3)
Congenital disorder of glycosylation, type IIp, 616829 (3)
Congenital disorder of glycosylation, type Ia, 212065 (3)
Congenital disorder of glycosylation, type Ib, 602579 (3)
Congenital disorder of glycosylation, type Ic, 603147 (3)
Congenital disorder of glycosylation, type Id, 601110 (3)
Congenital disorder of glycosylation, type Ie, 608799 (3)
Congenital disorder of glycosylation, type If, 609180 (3)
Congenital disorder of glycosylation, type Ig, 607143 (3)
Hypospadias 2, X-linked, 300758 (3)
Hypospadias 3, autosomal (2)
Hypothyroidism, central, and testicular enlargement, 300888 (3)
Hypothyroidism, congenital nongoitrous, 5, 225250 (3)
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)
Hypothyroidism, congenital, nongoitrous 4, 275100 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Hypothyroidism, congenital, nongoitrous, 3 (2)
Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)
Hypotonia, ataxia, and delayed development syndrome, 617330 (3)
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
{Multiple myeloma, susceptibility to}, 254500 (3)
{Multiple sclerosis, disease progression, modifier of}, 126200 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Multiple sclerosis, susceptibility to, 2} (2)
{Multiple sclerosis, susceptibility to, 3} (2)
{Multiple sclerosis, susceptibility to, 4} (2)
{Multiple sclerosis, susceptibility to, 5}, 614810 (3)
?Deafness, autosomal recessive 102, 615974 (3)
Congenital disorder of glycosylation, type Ih, 608104 (3)
Congenital disorder of glycosylation, type Ij, 608093 (3)
Congenital disorder of glycosylation, type Ik, 608540 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
Congenital disorder of glycosylation, type Im, 610768 (3)
Congenital disorder of glycosylation, type In, 612015 (3)
Congenital disorder of glycosylation, type Ip, 613661 (3)
Congenital disorder of glycosylation, type Iq, 612379 (3)
Congenital disorder of glycosylation, type It, 614921 (3)
Congenital disorder of glycosylation, type Iu, 615042 (3)
Congenital disorder of glycosylation, type Iy, 300934 (3)
Congenital heart defects and ectodermal dysplasia, 617364 (3)
Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3)
Congenital heart defects, multiple types, 3 (2)
Congenital heart defects, multiple types, 4, 615779 (3)
Congenital heart defects, multiple types, 5, 617912 (3)
Congenital heart defects, multiple types, 6, 613854 (3)
Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
Congenital heart defects, nonsyndromic, 2, 614980 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Congenital short bowel syndrome, 300048 (3)
Congenital short bowel syndrome, 615237 (3)
Conotruncal anomaly face syndrome, 217095 (3)
Conotruncal heart malformations, 217095 (3)
Conotruncal heart malformations, variable, 217095 (3)
Contractural arachnodactyly, congenital, 121050 (3)
Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)
Coproporphyria, 121300 (3)
Cornea plana 1, autosomal dominant (2)
Hypotonia, infantile, with psychomotor retardation, 616816 (3)
Hypotonia-cystinuria syndrome (4)
Hypotrichosis 1, 605389 (3)
Hypotrichosis 10 (2)
Hypotrichosis 14, 618275 (3)
Hypotrichosis 2, 146520 (3)
Hypotrichosis 4, 146550 (3)
Hypotrichosis 5 (2)
Hypotrichosis 6, 607903 (3)
Hypotrichosis 7, 604379 (3)
Hypotrichosis 8, 278150 (3)
Hypotrichosis 9 (2)
Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3)
Hypouricemia, renal, 2, 612076 (3)
Hypouricemia, renal, 220150 (3)
Hystrix-like ichthyosis with deafness, 602540 (3)
{Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
{Mycobacterium tuberculosis, protection against}, 607948 (3)
{Mycobacterium tuberculosis, protection against}, 607948 (3)
{Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)
{Mycobacterium tuberculosis, susceptibility to, 2} (2)
{Mycobacterium tuberculosis, susceptibility to, 3} (2)
Cornea plana 2, autosomal recessive, 217300 (3)
Corneal clouding, autosomal recessive (3)
Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, Fuchs endothelial, 2 (2)
Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal dystrophy, Fuchs endothelial, 5 (2)
Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, Fuchs endothelial, 7 (2)
Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Lisch epithelial (2)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Schnyder type, 121800 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, congenital stromal, 610048 (3)
Corneal dystrophy, endothelial, X-linked (2)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, gelatinous drop-like, 204870 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
Corneal dystrophy, posterior amorphous (4)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)
Corneal dystrophy, posterior polymorphous, 1, 122000 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
Corneal dystrophy, posterior polymorphous, 4, 618031 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
Corneal fleck dystrophy, 121850 (3)
Cornelia de Lange syndrome 1, 122470 (3)
Diamond-Blackfan anemia 7, 612562 (3)
IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
IMAGE syndrome, 614732 (3)
IMAGE-I syndrome, 618336 (3)
IRAK4 deficiency, 607676 (3)
IVIC syndrome, 147750 (3)
Ichthyosis bullosa of Siemens, 146800 (3)
Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis prematurity syndrome, 608649 (3)
Ichthyosis vulgaris, 146700 (3)
Ichthyosis with confetti, 609165 (3)
Ichthyosis, X-linked, 308100 (3)
Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
Ichthyosis, congenital, autosomal recessive 12, 617320 (3)
Ichthyosis, congenital, autosomal recessive 13, 617574 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Mycobacterium tuberculosis, susceptibility, X-linked} (2)
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)
{Myeloproliferative neoplasms, familial, susceptibility to} (4)
{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
Cornelia de Lange syndrome 2, 300590 (3)
Cornelia de Lange syndrome 3, 610759 (3)
Cornelia de Lange syndrome 4, 614701 (3)
Cornelia de Lange syndrome 5, 300882 (3)
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3)
Corpus callosum, partial agenesis of, 304100 (3)
Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)
Cortical dysplasia, complex, with other brain malformations 2, 615282 (3)
Cortical dysplasia, complex, with other brain malformations 3, 615411 (3)
Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)
Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)
Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
Cortical dysplasia, complex, with other brain malformations 9, 618174 (3)
Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Cortical malformations, occipital, 614115 (3)
Corticosteroid-binding globulin deficiency, 611489 (3)
Cortisone reductase deficiency 1, 604931 (3)
Cortisone reductase deficiency 2, 614662 (3)
Costello syndrome, 218040 (3)
Coumarin resistance, 122700 (3)
Cousin syndrome, 260660 (3)
Cowchock syndrome, 310490 (3)
Cowden syndrome 1, 158350 (3)
Cowden syndrome 4, 615107 (3)
Cowden syndrome 5, 615108 (3)
Cowden syndrome 6, 615109 (3)
Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3)
Cranioectodermal dysplasia 1, 218330 (3)
Cranioectodermal dysplasia 2, 613610 (3)
Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)
Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
Ichthyosis, congenital, autosomal recessive 7 (2)
Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)
IgG2 deficiency, selective (3)
{Myocardial infarction, decreased susceptibility to}, 608446 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Myocardial infarction, susceptibility to, 2} (2)
{Myocardial infarction, susceptibility to} (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Craniofacial-deafness-hand syndrome, 122880 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniofrontonasal dysplasia, 304110 (3)
Craniolenticulosutural dysplasia, 607812 (3)
Craniometaphyseal dysplasia, 123000 (3)
Craniometaphyseal dysplasia, autosomal recessive, 218400 (3)
Cranioosteoarthropathy, 259100 (3)
Craniosynostosis 1, 123100 (3)
Craniosynostosis 2, 604757 (3)
Craniosynostosis 3, 615314 (3)
Craniosynostosis 4, 600775 (3)
Craniosynostosis 6, 616602 (3)
Craniosynostosis and dental anomalies, 614188 (3)
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)
Craniosynostosis, Adelaide type (2)
Craniosynostosis, nonspecific (3)
Creatine phosphokinase, elevated serum, 123320 (3)
Creatinine clearance QTL (2)
Creutzfeldt-Jakob disease, 123400 (3)
Crigler-Najjar syndrome, type I, 218800 (3)
Crigler-Najjar syndrome, type II, 606785 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Crouzon syndrome, 123500 (3)
Cryohydrocytosis, 185020 (3)
Cryptorchidism, 219050 (3)
Cubitus valgus with mental retardation and unusual facies (2)
Culler-Jones syndrome, 615849 (3)
Currarino syndrome, 176450 (3)
Curry-Jones syndrome, somatic mosaic, 601707 (3)
Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)
Cutis laxa, autosomal dominant 2, 614434 (3)
Left ventricular noncompaction 7, 615092 (3)
Iminoglycinuria, digenic, 242600 (3)
Iminoglycinuria, digenic, 242600 (3)
Iminoglycinuria, digenic, 242600 (3)
Immunodeficiency 10, 612783 (3)
Immunodeficiency 11A, 615206 (3)
Immunodeficiency 11B with atopic dermatitis, 617638 (3)
Immunodeficiency 12, 615468 (3)
Immunodeficiency 14, 615513 (3)
Immunodeficiency 15A, 618204 (3)
Immunodeficiency 15B, 615592 (3)
Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
Immunodeficiency 19, 615617 (3)
Immunodeficiency 20, 615707 (3)
Immunodeficiency 21, 614172 (3)
Immunodeficiency 23, 615816 (3)
Immunodeficiency 24, 615897 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
?Deafness, autosomal recessive 103, 616042 (3)
Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal dominant, 123700 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Cutis laxa, autosomal recessive, type IB, 614437 (3)
Cutis laxa, autosomal recessive, type IC, 613177 (3)
Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIC, 617402 (3)
Cutis laxa, autosomal recessive, type IID, 617403 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
Cyanosis, transient neonatal, 613977 (3)
Cylindromatosis, familial, 132700 (3)
Cystathioninuria, 219500 (3)
Cystic fibrosis, 219700 (3)
Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
Cystinuria, 220100 (3)
Cystinuria, 220100 (3)
Czech dysplasia, 609162 (3)
D-2-hydroxyglutaric aciduria 2, 613657 (3)
D-2-hydroxyglutaric aciduria, 600721 (3)
D-bifunctional protein deficiency, 261515 (3)
D-glyceric aciduria, 220120 (3)
DNA topoisomerase I, camptothecin-resistant (3)
DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
DOORS syndrome, 220500 (3)
Dandy-Walker syndrome (4)
Danon disease, 300257 (3)
Darier disease, 124200 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
De la Chapelle dysplasia, 256050 (3)
Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)
Immunodeficiency 28, mycobacteriosis, 614889 (3)
Immunodeficiency 29, mycobacteriosis, 614890 (3)
Immunodeficiency 30, 614891 (3)
Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3)
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)
Immunodeficiency 31C, autosomal dominant, 614162 (3)
Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3)
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3)
Immunodeficiency 33, 300636 (3)
Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3)
Immunodeficiency 35, 611521 (3)
{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3)
{Narcolepsy 4} (2)
{Narcolepsy 5} (2)
{Nasopharyngeal carcinoma 1} (2)
{Nasopharyngeal carcinoma, susceptibility to, 2} (2)
?Infantile liver failure syndrome 1, 615438 (3)
Deafness , autosomal recessive 86, 614617 (3)
Deafness and male infertility (4)
Deafness and myopia, 221200 (3)
Deafness autosomal recessive 106, 617637 (3)
Deafness, X-linked 1, 304500 (3)
Deafness, X-linked 2, 304400 (3)
Deafness, X-linked 3 (2)
Deafness, X-linked 4, 300066 (3)
Deafness, X-linked 5, 300614 (3)
Deafness, Y-linked 1 (1)
Deafness, autosomal dominant 1, 124900 (3)
Deafness, autosomal dominant 10, 601316 (3)
Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal dominant 15, 602459 (3)
Deafness, autosomal dominant 16 (2)
Deafness, autosomal dominant 17, 603622 (3)
Deafness, autosomal dominant 18 (2)
Deafness, autosomal dominant 20/26, 604717 (3)
Deafness, autosomal dominant 21 (2)
Deafness, autosomal dominant 22, 606346 (3)
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)
Deafness, autosomal dominant 23, 605192 (3)
Deafness, autosomal dominant 24 (2)
Deafness, autosomal dominant 25, 605583 (3)
Deafness, autosomal dominant 27 (2)
Deafness, autosomal dominant 28, 608641 (3)
Deafness, autosomal dominant 2A, 600101 (3)
Deafness, autosomal dominant 2B, 612644 (3)
Deafness, autosomal dominant 30 (2)
Deafness, autosomal dominant 31 (2)
Deafness, autosomal dominant 33 (2)
Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)
Deafness, autosomal dominant 36, 606705 (3)
Immunodeficiency 36, 616005 (3)
Immunodeficiency 38, 616126 (3)
Immunodeficiency 40, 616433 (3)
Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)
Immunodeficiency 42, 616622 (3)
Immunodeficiency 43, 241600 (3)
Immunodeficiency 44, 616636 (3)
Immunodeficiency 46, 616740 (3)
Immunodeficiency 47, 300972 (3)
Immunodeficiency 48, 269840 (3)
Immunodeficiency 49, 617237 (3)
Immunodeficiency 50, 300988 (3)
Immunodeficiency 51, 613953 (3)
Immunodeficiency 52, 617514 (3)
Immunodeficiency 54, 609981 (3)
Immunodeficiency 55, 617827 (3)
Immunodeficiency 56, 615207 (3)
Immunodeficiency 57, 618108 (3)
Immunodeficiency 58, 618131 (3)
{Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
{Neural tube defects, susceptibility to}, 182940 (3)
{Neural tube defects, susceptibility to}, 182940 (3)
{Neural tube defects, susceptibility to}, 182940 (3)
Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Deafness, autosomal dominant 3A, 601544 (3)
Deafness, autosomal dominant 3B, 612643 (3)
Deafness, autosomal dominant 40, 616357 (3)
Deafness, autosomal dominant 41, 608224 (3)
Deafness, autosomal dominant 43 (2)
Deafness, autosomal dominant 47 (2)
Deafness, autosomal dominant 48 (2)
Deafness, autosomal dominant 49 (2)
Deafness, autosomal dominant 4A, 600652 (3)
Deafness, autosomal dominant 4B, 614614 (3)
Deafness, autosomal dominant 5, 600994 (3)
Deafness, autosomal dominant 50, 613074 (3)
Deafness, autosomal dominant 51 (4)
Deafness, autosomal dominant 52 (2)
Deafness, autosomal dominant 53 (2)
Deafness, autosomal dominant 54 (2)
Deafness, autosomal dominant 56, 615629 (3)
Deafness, autosomal dominant 58 (2)
Deafness, autosomal dominant 59 (2)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Deafness, autosomal dominant 64, 614152 (3)
Deafness, autosomal dominant 65, 616044 (3)
Deafness, autosomal dominant 67, 616340 (3)
Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3)
Deafness, autosomal dominant 7 (2)
Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal dominant 9, 601369 (3)
Deafness, autosomal dominant, with peripheral neuropathy (3)
Deafness, autosomal recessive (3)
Deafness, autosomal recessive 107, 617639 (3)
Deafness, autosomal recessive 111, 618145 (3)
Deafness, autosomal recessive 12, 601386 (3)
Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
Immunodeficiency 8, 615401 (3)
Immunodeficiency 9, 612782 (3)
Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)
Immunodeficiency due to ficolin 3 deficiency, 613860 (3)
Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Immunodeficiency with hyper IgM, type 5, 608106 (3)
Left ventricular noncompaction 8, 615373 (3)
Left ventricular noncompaction 9, 611878 (3)
Legg-Calve-Perthes disease, 150600 (3)
Legius syndrome, 611431 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Leigh syndrome, 256000 (3)
Leigh syndrome, 256000 (3)
Leigh syndrome, French-Canadian type, 220111 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Neuroblastoma, susceptibility to, 1}, 256700 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
{Neuroblastoma, susceptibility to, 3}, 613014 (3)
{Neuroblastoma, susceptibility to, 4} (2)
{Neuroblastoma, susceptibility to, 5} (2)
{Neuroblastoma, susceptibility to, 6} (2)
{Neuroblastoma, susceptibility to, 7} (2)
Deafness, autosomal recessive 13 (2)
Deafness, autosomal recessive 14 (2)
Deafness, autosomal recessive 15, 601869 (3)
Deafness, autosomal recessive 16, 603720 (3)
Deafness, autosomal recessive 17 (2)
Deafness, autosomal recessive 18A, 602092 (3)
Deafness, autosomal recessive 18B, 614945 (3)
Deafness, autosomal recessive 1A, 220290 (3)
Deafness, autosomal recessive 1B, 612645 (3)
Deafness, autosomal recessive 2, 600060 (3)
Deafness, autosomal recessive 20 (2)
Deafness, autosomal recessive 21, 603629 (3)
Deafness, autosomal recessive 22, 607039 (3)
Deafness, autosomal recessive 23, 609533 (3)
Deafness, autosomal recessive 24, 611022 (3)
Deafness, autosomal recessive 25, 613285 (3)
Deafness, autosomal recessive 27 (2)
Deafness, autosomal recessive 28, 609823 (3)
Deafness, autosomal recessive 29, 614035 (3)
Deafness, autosomal recessive 3, 600316 (3)
Deafness, autosomal recessive 30, 607101 (3)
Deafness, autosomal recessive 31, 607084 (3)
Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3)
Deafness, autosomal recessive 33 (2)
Deafness, autosomal recessive 35, 608565 (3)
Deafness, autosomal recessive 36, 609006 (3)
Deafness, autosomal recessive 37, 607821 (3)
Deafness, autosomal recessive 38 (2)
Deafness, autosomal recessive 39, 608265 (3)
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3)
Deafness, autosomal recessive 40 (2)
Deafness, autosomal recessive 42, 609646 (3)
Deafness, autosomal recessive 45 (2)
Deafness, autosomal recessive 46 (2)
Deafness, autosomal recessive 48, 609439 (3)
Diamond-Blackfan anemia 8, 612563 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
Leiomyoma, uterine, somatic, 150699 (1)
Leiomyomatosis and renal cell cancer, 150800 (3)
Lenz-Majewski hyperostotic dwarfism, 151050 (3)
Leprechaunism, 246200 (3)
Leri pleonosteosis chromosome duplication syndrome (4)
Leri-Weill dyschondrosteosis, 127300 (3)
Leri-Weill dyschondrosteosis, 127300 (3)
Lesch-Nyhan syndrome, 300322 (3)
Lethal congenital contractural syndrome 3, 611369 (3)
Lethal congenital contracture syndrome 1, 253310 (3)
Lethal congenital contracture syndrome 10, 617022 (3)
Lethal congenital contracture syndrome 11, 617194 (3)
Lethal congenital contracture syndrome 4, 614915 (3)
Lethal congenital contracture syndrome 5, 615368 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
{Nicotine addiction, protection from}, 188890 (3)
Microphthalmia, isolated 1 (2)
{Nicotine addiction, susceptibility to}, 188890 (3)
{Nicotine dependence, protection against}, 188890 (3)
{Nicotine dependence, protection against}, 188890 (3)
{Nicotine dependence, susceptibility to}, 188890 (3)
{Nicotine dependence, susceptibility to}, 612052 (3)
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
Deafness, autosomal recessive 49, 610153 (3)
Deafness, autosomal recessive 5 (2)
Deafness, autosomal recessive 51 (2)
Deafness, autosomal recessive 53, 609706 (3)
Deafness, autosomal recessive 55 (2)
Deafness, autosomal recessive 57, 618003 (3)
Deafness, autosomal recessive 59, 610220 (3)
Deafness, autosomal recessive 6, 600971 (3)
Deafness, autosomal recessive 62 (2)
Deafness, autosomal recessive 63, 611451 (3)
Deafness, autosomal recessive 65 (2)
Deafness, autosomal recessive 67, 610265 (3)
Deafness, autosomal recessive 68, 610419 (3)
Deafness, autosomal recessive 7, 600974 (3)
Deafness, autosomal recessive 70, 614934 (3)
Deafness, autosomal recessive 71 (2)
Deafness, autosomal recessive 74, 613718 (3)
Deafness, autosomal recessive 76, 615540 (3)
Deafness, autosomal recessive 77, 613079 (3)
Deafness, autosomal recessive 79, 613307 (3)
Deafness, autosomal recessive 8/10, 601072 (3)
Deafness, autosomal recessive 83 (2)
Deafness, autosomal recessive 84A, 613391 (3)
Deafness, autosomal recessive 84B, 614944 (3)
Deafness, autosomal recessive 85 (2)
Deafness, autosomal recessive 89, 613916 (3)
Deafness, autosomal recessive 9, 601071 (3)
Deafness, autosomal recessive 93, 614899 (3)
Deafness, autosomal recessive 96 (2)
Deafness, cataract, retinitis pigmentosa, and sperm abnormalities (2)
Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3)
Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3)
Deafness, digenic GJB2/GJB6, 220290 (3)
Deafness, digenic, GJB2/GJB3, 220290 (3)
Lethal congenital contracture syndrome 9, 616503 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
Leukemia, T-cell acute lymphoblastic (2)
Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, T-cell acute lymphoblastoid (2)
Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
Leukemia, acute T-cell (2)
Leukemia, acute lymphoblastic (2)
Leukemia, acute lymphoblastic, 613065 (3)
Leukemia, acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, acute myeloid, 601626 (1)
Leukemia, acute myeloid, 601626 (1)
Leukemia, acute myeloid, 601626 (1)
Leukemia, acute myeloid, 601626 (3)
Leukemia, acute myeloid, 601626 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
{Nonsmall cell lung cancer} (2)
{Norwalk virus infection, resistance to} (3)
{Obesity, association with}, 601665 (3)
{Obesity, early-onset, susceptibility to}, 601665 (3)
{Obesity, late-onset}, 601665 (3)
{Obesity, severe, and type II diabetes}, 601665 (3)
{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)
{Obesity, susceptibility to, BMIQ11} (2)
Deafness, dystonia, and cerebral hypomyelination, 300475 (3)
Deafness, neurosensory, autosomal recessive 47 (2)
Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
Dehydrated hereditary stomatocytosis 2, 616689 (3)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Dejerine-Sottas disease, 145900 (3)
Dejerine-Sottas disease, 145900 (3)
Dejerine-Sottas disease, 145900 (3)
Dejerine-Sottas disease, 145900 (3)
Delta-beta thalassemia, 141749 (3)
Dementia, Lewy body, 127750 (3)
Dementia, Lewy body, 127750 (3)
Dementia, familial British, 176500 (3)
Dementia, familial Danish, 117300 (3)
Dementia, familial, nonspecific, 600795 (3)
Dementia, frontotemporal, 600274 (3)
Dementia, frontotemporal, with or without parkinsonism, 600274 (3)
Dent disease 2, 300555 (3)
Dent disease, 300009 (3)
Dental anomalies and short stature, 601216 (3)
Dentatorubro-pallidoluysian atrophy, 125370 (3)
Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
Denys-Drash syndrome, 194080 (3)
Dermatofibrosarcoma protuberans, 607907 (3)
Dermatopathia pigmentosa reticularis, 125595 (3)
Dermoids of cornea (2)
Desanto-Shinawi syndrome, 616708 (3)
Desbuquois dysplasia 1, 251450 (3)
Desbuquois dysplasia 2, 615777 (3)
Desmoid disease, hereditary, 135290 (3)
Leukemia, acute myeloid, 601626 (3)
Leukemia, acute myeloid, 601626 (3)
Leukemia, acute myeloid, 601626 (3)
Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Leukemia, acute myeloid, therapy-related (1)
Leukemia, acute myeloid, with eosinophilia (1)
Leukemia, acute nonlymphocytic (2)
Leukemia, acute promyelocytic, 612376 (1)
Leukemia, acute promyelocytic, PL2F/RARA type (3)
Leukemia, acute promyelocytic, PML/RARA type (3)
Leukemia, acute promyelocytic, somatic, 102578 (3)
{Obesity, susceptibility to, BMIQ12}, 612362 (3)
{Obesity, susceptibility to, BMIQ14}, 612460 (3)
{Obesity, susceptibility to, BMIQ19}, 617885 (3)
{Obesity, susceptibility to, BMIQ4}, 607447 (3)
{Obesity, susceptibility to, BMIQ7} (2)
{Obesity, susceptibility to, BMIQ8} (2)
{Obesity, susceptibility to}, 601665 (3)
{Obesity, susceptibility to}, 601665 (3)
{Obesity, susceptibility to}, 601665 (3)
?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3)
Desmosterolosis, 602398 (3)
Developmental delay and seizures with or without movement abnormalities, 617836 (3)
Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
Developmental dysplasia of the hip 1 (2)
Developmental dysplasia of the hip 2 (2)
DiGeorge syndrome, 188400 (3)
DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
Diabetes insipidus, nephrogenic, 125800 (3)
Diabetes insipidus, nephrogenic, 304800 (3)
Diabetes insipidus, neurohypophyseal, 125700 (3)
Diabetes mellitus, insulin-dependent, 2, 125852 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, noninsulin-dependent, 2 (2)
Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
Diabetes mellitus, transient neonatal, 1, 601410 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes mellitus, type 2, 125853 (3)
Diabetes mellitus, type II, 125853 (3)
Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)
Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3)
Diamond-Blackfan anemia 1, 105650 (3)
Diamond-Blackfan anemia 10, 613309 (3)
Diamond-Blackfan anemia 13, 615909 (3)
Leukemia, acute promyelocytic, somatic, 612376 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
Leukemia, juvenile myelomonocytic, 607785 (3)
Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3)
Leukemia, myeloid/lymphoid or mixed-lineage (2)
Leukemia, transient, of Down syndrome (2)
Leukemia/lymphoma, B-cell, 2 (3)
Leukemia/lymphoma, B-cell, 3 (2)
Leukemia/lymphoma, T-cell (2)
Leukemia/lymphoma, T-cell (2)
Leukemia/lymphoma, T-cell (2)
Leukocyte adhesion deficiency, 116920 (3)
Leukocyte adhesion deficiency, type III, 612840 (3)
Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)
{Obesity, susceptibility to}, 601665 (3)
{Obesity, susceptibility to}, 601665 (3)
{Obesity, susceptibility to}, 607514 (3)
{Obesity, variation in}, 601665 (3)
{Obsessive-compulsive disorder, susceptibility to}, 164230 (3)
{Obsessive-compulsive disorder}, 164230 (3)
{Opioid dependence, susceptibility to, 1} (2)
{Organophosphate poisoning, sensitivity to} (3)
{Orofacial cleft 6}, 608864 (3)
Diamond-Blackfan anemia 2 (2)
Diamond-Blackfan anemia 4, 612527 (3)
Diamond-Blackfan anemia 9, 613308 (3)
Diamond-blackfan anemia 3, 610629 (3)
Diaphanospondylodysostosis, 608022 (3)
Diaphragmatic hernia 3, 610187 (3)
Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
Diarrhea 1, secretory chloride, congenital, 214700 (3)
Diarrhea 10, protein-losing enteropathy type, 618183 (3)
Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
Diarrhea 4, malabsorptive, congenital, 610370 (3)
Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
Diarrhea 6, 614616 (3)
Diarrhea 8, secretory sodium, congenital, 616868 (3)
Diarrhea 9, 618168 (3)
Dias-Logan syndrome, 617101 (3)
Diastrophic dysplasia, 222600 (3)
Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)
Dicarboxylic aminoaciduria, 222730 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Digital clubbing, isolated congenital, 119900 (3)
Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
Dihydropyrimidinuria, 222748 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Dimethylglycine dehydrogenase deficiency, 605850 (3)
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
Donnai-Barrow syndrome, 222448 (3)
Dowling-Degos disease 1, 179850 (3)
Dowling-Degos disease 2, 615327 (3)
Dowling-Degos disease 3 (2)
Dowling-Degos disease 4, 615696 (3)
Down syndrome (4)
Doyne honeycomb degeneration of retina, 126600 (3)
Leukodystrophy, hypomyelinating, 10, 616420 (3)
Leukodystrophy, hypomyelinating, 11, 616494 (3)
Leukodystrophy, hypomyelinating, 12, 616683 (3)
Leukodystrophy, hypomyelinating, 13, 616881 (3)
Leukodystrophy, hypomyelinating, 14, 617899 (3)
Leukodystrophy, hypomyelinating, 15, 617951 (3)
Leukodystrophy, hypomyelinating, 16, 617964 (3)
Leukodystrophy, hypomyelinating, 17, 618006 (3)
Leukodystrophy, hypomyelinating, 2, 608804 (3)
Leukodystrophy, hypomyelinating, 3, 260600 (3)
Leukodystrophy, hypomyelinating, 4, 612233 (3)
Leukodystrophy, hypomyelinating, 5, 610532 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
{Osteoarthritis susceptibility 1}, 165720 (3)
{Osteoarthritis susceptibility 2}, 140600 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
{Osteoarthritis susceptibility 4} (2)
{Osteoarthritis susceptibility 6} (2)
{Osteoarthritis-5}, 612400 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3)
Drug metabolism, altered, CES1-related, 618057 (3)
Du Pan syndrome, 228900 (3)
Duane retraction syndrome 1 (2)
Duane retraction syndrome 2, 604356 (3)
Duane retraction syndrome 3, 617041 (3)
Duane-radial ray syndrome, 607323 (3)
Dubin-Johnson syndrome, 237500 (3)
Duchenne muscular dystrophy, 310200 (3)
Dupuytren contracture 1 (2)
Dursun syndrome, 612541 (3)
Dyggve-Melchior-Clausen disease, 223800 (3)
Dysautonomia, familial, 223900 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
Dyschromatosis universalis hereditaria 1 (2)
Dyschromatosis universalis hereditaria 1, 127500 (3)
Dyschromatosis universalis hereditaria 2 (2)
Dyschromatosis universalis hereditaria 3, 615402 (3)
Dyserythropoietic anemia, congenital, type II, 224100 (3)
Dyserythropoietic anemia, congenital, type III (2)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
Dysfibrinogenemia, congenital, 616004 (3)
Dysfibrinogenemia, congenital, 616004 (3)
Dysfibrinogenemia, congenital, 616004 (3)
Dyskeratosis congenita, X-linked, 305000 (3)
Dyskeratosis congenita, autosomal dominant 1, 127550 (3)
Dyskeratosis congenita, autosomal dominant 3, 613990 (3)
Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 1, 224230 (3)
Dyskeratosis congenita, autosomal recessive 2, 613987 (3)
Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Leukodystrophy, hypomyelinating, 9, 616140 (3)
Leukoencephalopathy with ataxia, 615651 (3)
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
Leukoencephalopathy with metaphyseal chondrodysplasia (2)
Leukoencephalopathy with vanishing white matter, 603896 (3)
Leukoencephalopathy with vanishing white matter, 603896 (3)
Leukoencephalopathy with vanishing white matter, 603896 (3)
Leukoencephalopathy with vanishing white matter, 603896 (3)
Leukoencephalopathy with vanishing white matter, 603896 (3)
Leukoencephalopathy, brain calcifications, and cysts, 614561 (3)
Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
Leukotriene C4 synthase deficiency, 614037 (1)
Levy-Shanske syndrome (4)
Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
{Osteoporosis, postmenopausal}, 166710 (3)
{Osteoporosis, susceptibility to}, 166710 (3)
{Osteoporosis}, 166710 (2)
{Osteoporosis}, 166710 (2)
{Osteoporosis}, 166710 (3)
{Osteosarcoma}, 259500 (3)
{Otitis media, susceptibility to}, 166760 (3)
{Otosclerosis 4} (2)
{Ovarian cancer, susceptibility to} (2)
Dyskeratosis congenita, autosomal recessive 6, 616353 (3)
Dyskeratosis, hereditary benign intraepithelial (2)
Dyskinesia, familial, with facial myokymia, 606703 (3)
Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Dysplasminogenemia, 217090 (3)
Dysprothrombinemia, 613679 (3)
Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
Dystonia 13, torsion (2)
Dystonia 16, 612067 (3)
Dystonia 2, torsion, autosomal recessive, 224500 (3)
Dystonia 21 (2)
Dystonia 24, 615034 (3)
Dystonia 25, 615073 (3)
Dystonia 26, myoclonic, 616398 (3)
Dystonia 27, 616411 (3)
Dystonia 28, childhood-onset, 617284 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)
Dystonia 6, torsion, 602629 (3)
Dystonia 9, 601042 (3)
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
Dystonia-1, torsion, 128100 (3)
Dystonia-11, myoclonic, 159900 (3)
Dystonia-12, 128235 (3)
Dystonia-15, myoclonic (2)
Dystonia-17, primary torsion (2)
Dystonia-7, torsion (2)
Dystonia-Parkinsonism, X-linked, 314250 (3)
EBD inversa, 226600 (3)
EBD, Bart type, 132000 (3)
EBD, localisata variant (3)
EDICT syndrome, 614303 (3)
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3)
Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)
Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
Lhermitte-Duclos syndrome, 158350 (3)
Li-Fraumeni syndrome, 151623 (3)
Li-Fraumeni syndrome, 609265 (3)
Liddle syndrome 1, 177200 (3)
Liddle syndrome 2, 618114 (3)
Liebenberg syndrome, 186550 (4)
Limb-mammary syndrome, 603543 (3)
Linear skin defects with multiple congenital anomalies 1, 309801 (3)
Linear skin defects with multiple congenital anomalies 2, 300887 (3)
Linear skin defects with multiple congenital anomalies 3, 300952 (3)
Lipase deficiency, combined, 246650 (3)
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3)
Lipodystrophy, congenital generalized, type 1, 608594 (3)
{Paget disease of bone 2, early-onset}, 602080 (3)
{Pancreatic cancer 2}, 613347 (3)
{Pancreatic cancer, susceptibility to, 1}, 606856 (3)
{Pancreatic cancer, susceptibility to, 3}, 613348 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Pancreatitis, chronic, protection against}, 167800 (3)
{Pancreatitis, chronic, susceptibility to}, 167800 (3)
{Pancreatitis, hereditary}, 167800 (3)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3)
Ectodermal dysplasia 2, Clouston type, 129500 (3)
Ectodermal dysplasia 3, Witkop type, 189500 (3)
Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Ectodermal dysplasia 5, hair/nail type (2)
Ectodermal dysplasia 6, hair/nail type (2)
Ectodermal dysplasia 8, hair/tooth/nail type (2)
Ectodermal dysplasia 9, hair/nail type, 614931 (3)
Ectodermal dysplasia and immunodeficiency 1, 300291 (3)
Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3)
Ectodermal dysplasia-syndactyly syndrome 2 (2)
Ectodermal dysplasia/short stature syndrome, 616029 (3)
Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Ectopia lentis et pupillae, 225200 (3)
Ectopia lentis, familial, 129600 (3)
Ectopia lentis, isolated, autosomal recessive, 225100 (3)
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)
Efavirenz, poor metabolism of, 614546 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Lipodystrophy, congenital generalized, type 2, 269700 (3)
Lipodystrophy, congenital generalized, type 4, 613327 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Lipodystrophy, familial partial, type 3, 604367 (3)
Lipodystrophy, familial partial, type 4, 613877 (3)
Lipodystrophy, familial partial, type 6, 615980 (3)
Lipodystrophy, familial partial, type 7, 606721 (3)
Lipoid adrenal hyperplasia, 201710 (3)
Lipoma (3)
Lipoma, somatic (3)
Lipoprotein glomerulopathy, 611771 (3)
Lipoprotein lipase deficiency, 238600 (3)
Liposarcoma (1)
Lipoyltransferase 1 deficiency, 616299 (3)
Lissencephaly 1, 607432 (3)
Lissencephaly 2 (Norman-Roberts type), 257320 (3)
Lissencephaly 3, 611603 (3)
Lissencephaly 4 (with microcephaly), 614019 (3)
{Panic disorder, susceptibility to}, 167870 (3)
{Parkinson disease 10} (2)
{Parkinson disease 11}, 607688 (3)
{Parkinson disease 12} (2)
{Parkinson disease 13}, 610297 (3)
{Parkinson disease 16} (2)
{Parkinson disease 17}, 614203 (3)
{Parkinson disease 18}, 614251 (3)
{Parkinson disease 3} (2)
?Deafness, autosomal recessive 104, 616515 (3)
Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3)
Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)
Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)
Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)
Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3)
Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
Ehlers-Danlos syndrome, vascular type, 130050 (3)
Eiken syndrome, 600002 (3)
Elliptocytosis-1, 611804 (3)
Elliptocytosis-2, 130600 (3)
Elliptocytosis-3, 617948 (3)
Ellis-van Creveld syndrome, 225500 (3)
Ellis-van Creveld syndrome, 225500 (3)
Elsahy-Waters syndrome, 211380 (3)
Emanuel syndrome (4)
Emberger syndrome, 614038 (3)
Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
Emphysema due to AAT deficiency, 613490 (3)
Lissencephaly 5, 615191 (3)
Lissencephaly 6, with microcephaly, 616212 (3)
Lissencephaly 8, 617255 (3)
Lissencephaly 9 with complex brainstem malformation, 618325 (3)
Lissencephaly, X-linked 2, 300215 (3)
Lissencephaly, X-linked, 300067 (3)
Liver failure, transient infantile, 613070 (3)
Loeys-Dietz syndrome 1, 609192 (3)
Loeys-Dietz syndrome 2, 610168 (3)
Loeys-Dietz syndrome 3, 613795 (3)
Loeys-Dietz syndrome 4, 614816 (3)
Loeys-Dietz syndrome 5, 615582 (3)
Long QT syndrome 1, 192500 (3)
Long QT syndrome 12, 612955 (3)
Long QT syndrome 13, 613485 (3)
Long QT syndrome 14, 616247 (3)
Long QT syndrome 15, 616249 (3)
{Parkinson disease 8}, 607060 (3)
{Parkinson disease, age of onset, modifier}, 168600 (3)
{Parkinson disease, late-onset, susceptibility to}, 168600 (3)
{Parkinson disease, late-onset, susceptibility to}, 168600 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
{Patent ductus arteriosus, susceptibility to} (2)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3)
Encephalocraniocutaneous lipomatosis, 613001 (3)
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)
Encephalopathy, neonatal severe, 300673 (3)
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3)
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 (3)
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3)
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 (3)
Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3)
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Endocrine-cerebroosteodysplasia, 612651 (3)
Endometrial carcinoma, somatic, 608089 (3)
Endometrial carcinoma, somatic, 608089 (3)
Enhanced S-cone syndrome, 268100 (3)
Enlarged vestibular aqueduct, 600791 (3)
Enlarged vestibular aqueduct, digenic, 600791 (3)
Long QT syndrome 2, 613688 (3)
Long QT syndrome 4, 600919 (3)
Long QT syndrome 5, 613695 (3)
Long QT syndrome 6, 613693 (3)
Long QT syndrome 9, 611818 (3)
Long QT syndrome-10, 611819 (3)
Long QT syndrome-3, 603830 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
Lowe syndrome, 309000 (3)
Lujan-Fryns syndrome, 309520 (3)
Lung cancer, somatic, 211980 (3)
Lung cancer, somatic, 211980 (3)
Lung cancer, somatic, 211980 (3)
Lung cancer, somatic, 211980 (3)
{Pelvic organ prolapse, susceptibility to, 1} (2)
{Pelvic organ prolapse, susceptibility to, 2} (2)
{Pheochromocytoma, modifier of}, 171300 (3)
{Pheochromocytoma, susceptibility to}, 171300 (3)
{Pheochromocytoma, susceptibility to}, 171300 (3)
?Deafness, autosomal recessive 108, 617654 (3)
?Deafness, autosomal recessive 109, 618013 (3)
?Deafness, autosomal recessive 110, 618094 (3)
?Deafness, autosomal recessive 112, 618257 (3)
?Deafness, autosomal recessive 26, 605428 (3)
?Deafness, autosomal recessive 44, 610154 (3)
?Deafness, autosomal recessive 61, 613865 (3)
?Deafness, autosomal recessive 66, 610212 (3)
?Deafness, autosomal recessive 88, 615429 (3)
?Deafness, autosomal recessive 91, 613453 (3)
?Deafness, autosomal recessive 97, 616705 (3)
?Deafness, autosomal recessive 98, 614861 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
?Diabetes mellitus, insulin-dependent, neonatal (2)
?Diamond-Blackfan anemia 11, 614900 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
{Placental abruption} (3)
Enolase deficiency (1)
Enterokinase deficiency, 226200 (3)
Enuresis, nocturnal, 1 (2)
Enuresis, nocturnal, 2 (2)
Eosinophilia, familial (2)
Epidermal nevus, somatic, 162900 (3)
Epidermodysplasia verruciformis 2, 618231 (3)
Epidermodysplasia verruciformis 3, 618267 (3)
Epidermodysplasia verruciformis, 226400 (3)
Epidermolysis bullosa dystrophica, AD, 131750 (3)
Epidermolysis bullosa dystrophica, AR, 226600 (3)
Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa pruriginosa, 604129 (3)
Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3)
Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Ogna type, 131950 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3)
Luscan-Lumish syndrome, 616831 (3)
Luteinizing hormone resistance, female, 238320 (3)
Lymphangioleiomyomatosis, 606690 (3)
Lymphangioleiomyomatosis, somatic, 606690 (3)
Lymphatic malformation 1, 153100 (3)
Lymphatic malformation 2 (2)
?Diamond-Blackfan anemia 12, 615550 (3)
?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3)
?Diamond-Blackfan anemia 16, 617408 (3)
?Diamond-Blackfan anemia 17, 617409 (3)
?Diamond-Blackfan anemia 18, 618310 (3)
?Diamond-Blackfan anemia 19, 618312 (3)
?Diamond-Blackfan anemia 20, 618313 (3)
?Diamond-Blackfan anemia-like, 617911 (3)
?Diarrhea 7, protein-losing enteropathy type, 615863 (3)
?Dyskeratosis congenita, autosomal dominant 6, 616553 (3)
?Dyskeratosis congenita, autosomal recessive 7, 616553 (3)
?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3)
?Dystonia 23, 614860 (3)
?Dystonia, juvenile-onset, 607371 (3)
?EEC syndrome-1 (2)
?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3)
?Ectodermal dysplasia 7, hair/nail type, 614929 (3)
Lymphatic malformation 3, 613480 (3)
Lymphatic malformation 4, 615907 (3)
Lymphatic malformation 6, 616843 (3)
Lymphatic malformation 7, 617300 (3)
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)
Lymphedema-distichiasis syndrome, 153400 (3)
{Plasmodium falciparum fever episodes QTL1} (2)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Podoconiosis, susceptibility to} (2)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
{Preeclampsia, susceptibility to} (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Epidermolysis bullosa simplex-MCR, 609352 (3)
Epidermolysis bullosa simplex-MP, 131960 (3)
Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
Epidermolysis bullosa, pretibial, 131850 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Epilepsy, childhood absence, 1 (2)
Epilepsy, early-onset, vitamin B6-dependent, 617290 (3)
Epilepsy, familial adult myoclonic, 1, 601068 (3)
Epilepsy, familial focal, with variable foci 1, 604364 (3)
Epilepsy, familial focal, with variable foci 2, 617116 (3)
Epilepsy, familial focal, with variable foci 3, 617118 (3)
Epilepsy, familial focal, with variable foci 4, 617935 (3)
Epilepsy, familial temporal lobe, 1, 600512 (3)
Epilepsy, familial temporal lobe, 2 (2)
Epilepsy, familial temporal lobe, 3 (2)
Epilepsy, familial temporal lobe, 4 (2)
Epilepsy, familial temporal lobe, 5, 614417 (3)
Lymphocytic leukemia, acute T-cell (3)
Lymphoma, B-cell (2)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, MALT, somatic, 137245 (3)
Lymphoma, mantle cell, somatic (3)
Lymphoma, non-Hodgkin, 605027 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
Lymphoma, somatic (3)
Lymphoproliferative syndrome 1, 613011 (3)
Lymphoproliferative syndrome 2, 615122 (3)
Lymphoproliferative syndrome 3, 618261 (3)
Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
Lysinuric protein intolerance, 222700 (3)
Lysyl hydroxylase 3 deficiency, 612394 (3)
MASA syndrome, 303350 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3)
{Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
{Prostate cancer aggressiveness QTL} (2)
{Prostate cancer, familial, susceptibility to}, 176807 (3)
{Prostate cancer, hereditary, 10} (2)
{Prostate cancer, hereditary, 11} (2)
Epilepsy, familial temporal lobe, 6 (2)
Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)
Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3)
Epilepsy, generalized, with febrile seizures plus, type 4 (2)
Epilepsy, generalized, with febrile seizures plus, type 6 (2)
Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)
Epilepsy, generalized, with febrile seizures plus, type 8 (2)
Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3)
Epilepsy, hot water, 1 (2)
Epilepsy, hot water, 2 (2)
Epilepsy, juvenile myoclonic (2)
Epilepsy, juvenile myoclonic 3 (2)
Epilepsy, myoclonic, familial adult, 2, 607876 (3)
Epilepsy, myoclonic, familial adult, 3 (2)
Epilepsy, myoclonic, familial adult, 4 (2)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epilepsy, nocturnal frontal lobe, type 2 (2)
Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)
Epilepsy, partial, with pericentral spikes (2)
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Epilepsy, progressive myoclonic 1B, 612437 (3)
Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Epilepsy, progressive myoclonic 6, 614018 (3)
Epilepsy, progressive myoclonic 7, 616187 (3)
Epilepsy, pyridoxine-dependent, 266100 (3)
MASP2 deficiency, 613791 (3)
MASS syndrome, 604308 (3)
MEDNIK syndrome, 609313 (3)
MEHMO syndrome, 300148 (3)
MEND syndrome, 300960 (3)
MHC class II deficiency, complementation group B, 209920 (3)
MIRAGE syndrome, 617053 (3)
MODY, type I, 125850 (3)
MODY, type II, 125851 (3)
{Prostate cancer, hereditary, 12}, 611868 (3)
{Prostate cancer, hereditary, 13}, 611928 (3)
{Prostate cancer, hereditary, 14} (2)
{Prostate cancer, hereditary, 15} (2)
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)
{Prostate cancer, hereditary, 5} (2)
{Prostate cancer, hereditary, 7} (2)
{Prostate cancer, hereditary, 9} (2)
{Prostate cancer, hereditary, 9}, 610997 (3)
{Prostate cancer, hereditary, X-linked 1} (2)
{Prostate cancer, hereditary, X-linked 2} (2)
{Prostate cancer, susceptibility to, 3} (2)
{Prostate cancer, susceptibility to, 4} (2)
{Prostate cancer, susceptibility to} (2)
Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp (2)
Epileptic encephalopathy, childhood-onset, 615369 (3)
Epileptic encephalopathy, early infantile, 1, 308350 (3)
Epileptic encephalopathy, early infantile, 11, 613721 (3)
Epileptic encephalopathy, early infantile, 12, 613722 (3)
Epileptic encephalopathy, early infantile, 13, 614558 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
Epileptic encephalopathy, early infantile, 16, 615338 (3)
Epileptic encephalopathy, early infantile, 17, 615473 (3)
Epileptic encephalopathy, early infantile, 18, 615476 (3)
Epileptic encephalopathy, early infantile, 19, 615744 (3)
Epileptic encephalopathy, early infantile, 2, 300672 (3)
Epileptic encephalopathy, early infantile, 23, 615859 (3)
Epileptic encephalopathy, early infantile, 24, 615871 (3)
Epileptic encephalopathy, early infantile, 25, 615905 (3)
Epileptic encephalopathy, early infantile, 26, 616056 (3)
Epileptic encephalopathy, early infantile, 27, 616139 (3)
Epileptic encephalopathy, early infantile, 28, 616211 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
Epileptic encephalopathy, early infantile, 3, 609304 (3)
Epileptic encephalopathy, early infantile, 30, 616341 (3)
Epileptic encephalopathy, early infantile, 31, 616346 (3)
Epileptic encephalopathy, early infantile, 32, 616366 (3)
Epileptic encephalopathy, early infantile, 33, 616409 (3)
Epileptic encephalopathy, early infantile, 34, 616645 (3)
Epileptic encephalopathy, early infantile, 35, 616647 (3)
Epileptic encephalopathy, early infantile, 36, 300884 (3)
Epileptic encephalopathy, early infantile, 37, 616981 (3)
{Prostate cancer, susceptibility to} (2)
{Prostate cancer, susceptibility to}, 176807 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
{Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
{Prostate cancer}, 176807 (3)
{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
{Psoriasis 15, pustular, susceptibility to}, 616106 (3)
{Psoriasis susceptibility 10} (2)
{Psoriasis susceptibility 11} (2)
{Psoriasis susceptibility 12} (2)
{Psoriasis susceptibility 13}, 614070 (3)
{Psoriasis susceptibility 1}, 177900 (3)
{Psoriasis susceptibility 3} (2)
{Psoriasis susceptibility 4} (2)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Epileptic encephalopathy, early infantile, 38, 617020 (3)
Epileptic encephalopathy, early infantile, 39, 612949 (3)
Epileptic encephalopathy, early infantile, 4, 612164 (3)
Epileptic encephalopathy, early infantile, 41, 617105 (3)
Epileptic encephalopathy, early infantile, 42, 617106 (3)
Epileptic encephalopathy, early infantile, 43, 617113 (3)
Epileptic encephalopathy, early infantile, 44, 617132 (3)
Epileptic encephalopathy, early infantile, 45, 617153 (3)
Epileptic encephalopathy, early infantile, 46, 617162 (3)
Epileptic encephalopathy, early infantile, 47, 617166 (3)
Epileptic encephalopathy, early infantile, 48, 617276 (3)
Epileptic encephalopathy, early infantile, 49, 617281 (3)
Epileptic encephalopathy, early infantile, 5, 613477 (3)
Epileptic encephalopathy, early infantile, 50, 616457 (3)
Epileptic encephalopathy, early infantile, 51, 617339 (3)
Epileptic encephalopathy, early infantile, 52, 617350 (3)
Epileptic encephalopathy, early infantile, 53, 617389 (3)
Epileptic encephalopathy, early infantile, 54, 617391 (3)
Epileptic encephalopathy, early infantile, 56, 617665 (3)
Epileptic encephalopathy, early infantile, 58, 617830 (3)
Epileptic encephalopathy, early infantile, 59, 617904 (3)
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3)
Epileptic encephalopathy, early infantile, 60, 617929 (3)
Epileptic encephalopathy, early infantile, 62, 617938 (3)
Epileptic encephalopathy, early infantile, 63, 617976 (3)
Epileptic encephalopathy, early infantile, 64, 618004 (3)
Epileptic encephalopathy, early infantile, 65, 618008 (3)
Epileptic encephalopathy, early infantile, 66, 618067 (3)
Epileptic encephalopathy, early infantile, 67, 618141 (3)
Netherton syndrome, 256500 (3)
{Psoriasis susceptibility 5} (2)
{Psoriasis susceptibility 6} (2)
{Psoriasis susceptibility 7} (2)
{Psoriasis susceptibility 8} (2)
{Psoriasis susceptibility 9} (2)
{Psoriasis, protection against}, 605606 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
{Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3)
{Pulmonary function} (2)
{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} (2)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
Epileptic encephalopathy, early infantile, 68, 618201 (3)
Epileptic encephalopathy, early infantile, 69, 618285 (3)
Epileptic encephalopathy, early infantile, 7, 613720 (3)
Epileptic encephalopathy, early infantile, 70, 618298 (3)
Epileptic encephalopathy, early infantile, 71, 618328 (3)
Epileptic encephalopathy, early infantile, 8, 300607 (3)
Epileptic encephalopathy, early infantile, 9, 300088 (3)
Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3)
Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
Epileptic encephalopathy, infantile or early childhood, 3, 618012 (3)
Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Epiphyseal dysplasia, multiple, 1, 132400 (3)
Epiphyseal dysplasia, multiple, 2, 600204 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
Epiphyseal dysplasia, multiple, 4, 226900 (3)
Epiphyseal dysplasia, multiple, 5, 607078 (3)
Epiphyseal dysplasia, multiple, 7, 617719 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Episodic ataxia, type 2, 108500 (3)
Episodic ataxia, type 3 (2)
Episodic ataxia, type 5, 613855 (3)
Episodic ataxia, type 6, 612656 (3)
Episodic ataxia, type 7 (2)
Episodic ataxia, type 8 (2)
Episodic ataxia/myokymia syndrome, 160120 (3)
Episodic kinesigenic dyskinesia 1, 128200 (3)
Episodic kinesigenic dyskinesia 2 (2)
Episodic muscle weakness, X-linked (2)
Episodic pain syndrome, familial, 2, 615551 (3)
Episodic pain syndrome, familial, 3, 615552 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
Erythermalgia, primary, 133020 (3)
Erythrocyte lactate transporter defect, 245340 (3)
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)
{Renal cell carcinoma}, 144700 (3)
{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
{Resistance to malaria due to G6PD deficiency}, 611162 (3)
{Restless legs syndrome 1} (2)
{Restless legs syndrome 2} (2)
{Restless legs syndrome 3} (2)
{Restless legs syndrome 4} (2)
{Restless legs syndrome 5} (2)
{Restless legs syndrome 6} (2)
{Restless legs syndrome 7} (2)
{Restless legs syndrome 8} (2)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
{Rheumatoid arthritis, progression of}, 180300 (3)
{Rheumatoid arthritis, susceptibility to} (2)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
Erythrocytosis 6, 617980 (3)
Erythrocytosis 7, 617981 (3)
Erythrocytosis, 7, 617981 (3)
Erythrocytosis, familial, 2, 263400 (3)
Erythrocytosis, familial, 3, 609820 (3)
Erythrocytosis, familial, 4, 611783 (3)
Erythrocytosis, familial, 5, 617907 (3)
Erythrocytosis, familial, 8, 222800 (3)
Erythrocytosis, somatic, 133100 (3)
Erythrocytosis, somatic, 133100 (3)
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Erythrokeratodermia variabilis et progressiva 1, 133200 (3)
Erythrokeratodermia variabilis et progressiva 2, 617524 (3)
Erythrokeratodermia variabilis et progressiva 3, 617525 (3)
Erythrokeratodermia variabilis et progressiva 4, 617526 (3)
Erythrokeratodermia variabilis et progressiva 5, 617756 (3)
Escobar syndrome, 265000 (3)
Esophageal cancer, somatic, 133239 (3)
Esophageal carcinoma, somatic, 133239 (3)
Esophageal carcinoma, somatic, 133239 (3)
Esophageal squamous cell carcinoma, somatic, 133239 (3)
Esophageal squamous cell carcinoma, somatic, 133239 (3)
Essential tremor, hereditary, 2 (2)
Essential tremor, hereditary, 3 (2)
Essential tremor, hereditary, 4, 614782 (3)
Essential tremor, hereditary, 5, 616736 (3)
Estrogen resistance, 615363 (3)
Ethylmalonic encephalopathy, 602473 (3)
Even-plus syndrome, 616854 (3)
Ewing sarcoma, 612219 (3)
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)
Exostoses, multiple, type 1, 133700 (3)
Exostoses, multiple, type 2, 133701 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3)
{Rheumatoid arthritis, systemic juvenile}, 604302 (3)
{SARS, progression of} (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
{Sarcoidosis, susceptibility to, 2}, 612387 (3)
{Sarcoidosis, susceptibility to, 3} (2)
{Schistosoma mansoni infection, susceptibility/resistance to} (2)
{Schizophrenia 10} (2)
{Schizophrenia 12}, 181500 (2)
{Schizophrenia 15}, 613950 (3)
{Schizophrenia 19, susceptibility to}, 617629 (3)
{Schizophrenia 9, susceptibility to}, 604906 (3)
?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3)
Exostoses, multiple, type 3 (2)
Extraoral halitosis due to MTO deficiency, 618148 (3)
Exudative vitreoretinopathy 1, 133780 (3)
Exudative vitreoretinopathy 2, X-linked, 305390 (3)
Exudative vitreoretinopathy 3 (2)
Exudative vitreoretinopathy 4, 601813 (3)
Exudative vitreoretinopathy 5, 613310 (3)
Exudative vitreoretinopathy 7, 617572 (3)
FG syndrome 3 (2)
FG syndrome 4, 300422 (3)
FG syndrome 5 (2)
FILS syndrome, 615139 (3)
FINCA syndrome, 618278 (3)
Fabry disease, 301500 (3)
Fabry disease, cardiac variant, 301500 (3)
Facial paresis, hereditary congenital, 1 (2)
Facial paresis, hereditary congenital, 2 (2)
Facial paresis, hereditary congenital, 3, 614744 (3)
Facioscapulohumeral muscular dystrophy 1 (4)
Immunodeficiency with hyper-IgM, type 2, 605258 (3)
Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3)
Immunodeficiency, common variable, 1, 607594 (3)
Immunodeficiency, common variable, 10, 615577 (3)
Immunodeficiency, common variable, 12, 616576 (3)
Immunodeficiency, common variable, 13, 616873 (3)
Immunodeficiency, common variable, 2, 240500 (3)
Immunodeficiency, common variable, 3, 613493 (3)
Immunodeficiency, common variable, 4, 613494 (3)
Immunodeficiency, common variable, 5, 613495 (3)
Immunodeficiency, common variable, 6, 613496 (3)
Immunodeficiency, common variable, 7, 614699 (3)
Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
MODY, type III, 600496 (3)
{Schizophrenia, susceptibility to, 13} (2)
{Schizophrenia, susceptibility to, 14} (2)
{Schizophrenia, susceptibility to, 17}, 614332 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
{Schizophrenia, susceptibility to}, 181500 (2)
{Schizophrenia, susceptibility to}, 181500 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Schizophrenia}, 181500 (1)
{Schizophrenia}, 181500 (1)
{Schizophrenia}, 181500 (2)
{Schizophrenia}, 181500 (2)
{Schizophrenia}, 181500 (2)
{Schizophrenia}, 181500 (2)
{Schizophrenia}, 181500 (2)
{Schizophrenia}, 181500 (2)
?Epilepsy, familial adult myoclonic, 6, 618074 (3)
Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3)
Immunodeficiency, isolated, 300584 (3)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3)
Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3)
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
Immunoglobulin A deficiency (2)
Immunoglobulin A deficiency 2, 609529 (3)
Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
Incontinentia pigmenti, 308300 (3)
Increased responsiveness to growth hormone, 604271 (3)
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 (3)
Infantile cerebellar-retinal degeneration, 614559 (3)
Infantile liver failure syndrome 2, 616483 (3)
Infantile neuroaxonal dystrophy 1, 256600 (3)
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3)
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3)
Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3)
Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
Insensitivity to pain, congenital, 243000 (3)
Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Insomnia, fatal familial, 600072 (3)
Insulin resistance, severe, digenic, 125853 (3)
Insulin resistance, severe, digenic, 604367 (3)
Insulin-like growth factor I, resistance to, 270450 (3)
{Schizophrenia}, 181500 (2)
{Schizophrenia}, 181500 (2)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
{Schwannomatosis-2, susceptibility to}, 615670 (3)
{Scoliosis, idiopathic, susceptibility to, 4} (2)
{Scoliosis, idiopathic, susceptibility to, 5} (2)
{Scoliosis, isolated, susceptibility to, 3} (2)
{Seasonal affective disorder, susceptibility to}, 608516 (3)
{Sepsis, susceptibility to} (3)
{Septic shock, susceptibility to} (3)
{Sezary syndrome, somatic} (3)
{Sick sinus syndrome 3}, 614090 (3)
{Smoking as a quantitative trait locus 1} (2)
{Smoking as a quantitative trait locus 2} (2)
{Specific language impairment 4} (2)
{Specific language impairment 5}, 615432 (3)
{Speech-sound disorder} (2)
{Spermatogenic failure, susceptibility to} (3)
{Spina bifida, susceptibility to}, 182940 (3)
Insulinoma (1)
Insulinomatosis and diabetes mellitus, 147630 (3)
Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 (3)
Intellectual developmental disorder with autism and speech delay, 606053 (3)
Intellectual developmental disorder with cardiac arrhythmia, 617173 (3)
Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 (3)
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3)
Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3)
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3)
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 (3)
Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
Interferon, alpha, deficiency (1)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
Interstitial lung and liver disease, 615486 (3)
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
Interstitial nephritis, karyomegalic, 614817 (3)
Intestinal pseudoobstruction, neuronal, 300048 (3)
Intrinsic factor deficiency, 261000 (3)
Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)
Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3)
Iron-refractory iron deficiency anemia, 206200 (3)
Ischiocoxopodopatellar syndrome, 147891 (3)
Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
{Spinal muscular atrophy, type III, modifier of}, 253400 (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Spondyloarthropathy, susceptibility to, 2} (2)
{Spondyloarthropathy, susceptibility to, 3} (2)
{Stature QTL 10} (2)
{Stature QTL 11} (2)
{Stature QTL 12} (2)
{Stature QTL 13} (2)
{Stature QTL 14} (2)
{Stature QTL 15} (2)
{Stature QTL 16} (2)
{Stature QTL 17} (2)
{Stature QTL 18} (2)
{Stature QTL 19} (2)
{Stature QTL 1} (2)
{Stature QTL 20} (2)
{Stature QTL 21} (2)
{Stature QTL 22} (2)
{Stature QTL 23} (2)
{Stature QTL 24} (2)
{Stature QTL 2} (2)
{Stature QTL 3} (2)
{Stature QTL 4} (2)
?Epilepsy, familial adult myoclonic, 7, 618075 (3)
Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3)
Isovaleric acidemia, 243500 (3)
Jaberi-Elahi syndrome, 617988 (3)
Jackson-Weiss syndrome, 123150 (3)
Jackson-Weiss syndrome, 123150 (3)
Jacobsen syndrome (4)
Jalili syndrome, 217080 (3)
Jawad syndrome, 251255 (3)
Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Jervell and Lange-Nielsen syndrome, 220400 (3)
Johanson-Blizzard syndrome, 243800 (3)
Joint laxity, short stature, and myopia, 617662 (3)
Joubert syndrome 1, 213300 (3)
Joubert syndrome 10, 300804 (3)
Joubert syndrome 12, 200990 (3)
Joubert syndrome 13, 614173 (3)
Joubert syndrome 14, 614424 (3)
Joubert syndrome 15, 614464 (3)
Joubert syndrome 16, 614465 (3)
Joubert syndrome 17, 614615 (3)
Joubert syndrome 18, 614815 (3)
Joubert syndrome 19, 614844 (3)
Joubert syndrome 2, 608091 (3)
Joubert syndrome 20, 614970 (3)
Joubert syndrome 21, 615636 (3)
Joubert syndrome 23, 616490 (3)
Joubert syndrome 24, 616654 (3)
Joubert syndrome 25, 616781 (3)
Joubert syndrome 26, 616784 (3)
Joubert syndrome 27, 617120 (3)
Joubert syndrome 28, 617121 (3)
Joubert syndrome 3, 608629 (3)
Joubert syndrome 30, 617622 (3)
Joubert syndrome 31, 617761 (3)
Joubert syndrome 32, 617757 (3)
{Stature QTL 5} (2)
{Stature QTL 6} (2)
{Stature QTL 7} (2)
{Stature QTL 8} (2)
{Stature QTL 9} (2)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Strabismus, susceptibility to, 1} (2)
{Stroke, hemorrhagic}, 614519 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Stroke, susceptibility to, 1} (2)
{Stroke, susceptibility to}, 601367 (3)
{Sublingual nitroglycerin, susceptibility to poor response to} (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
{Synovitis, chronic, susceptibility to} (3)
{Systemic lupus erythematosus susceptibility to}, 152700 (3)
{Systemic lupus erythematosus with hemolytic anemia} (2)
{Systemic lupus erythematosus with nephritis, susceptibility to, 1} (2)
{Systemic lupus erythematosus with nephritis, susceptibility to, 2} (2)
Joubert syndrome 33, 617767 (3)
Joubert syndrome 34, 614175 (3)
Joubert syndrome 35, 618161 (3)
Joubert syndrome 4, 609583 (3)
Joubert syndrome 5, 610188 (3)
Joubert syndrome 6, 610688 (3)
Joubert syndrome 7, 611560 (3)
Joubert syndrome 8, 612291 (3)
Joubert syndrome 9, 612285 (3)
Juvenile polyposis syndrome, infantile form, 174900 (3)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)
KBG syndrome, 148050 (3)
Kabuki syndrome 1, 147920 (3)
Kabuki syndrome 2, 300867 (3)
Kagami-Ogata syndrome (4)
Kahrizi syndrome, 612713 (3)
Kanzaki disease, 609242 (3)
Kappa light chain deficiency, 614102 (3)
Kaufman oculocerebrofacial syndrome, 244450 (3)
Kenny-Caffey syndrome, type 1, 244460 (3)
Kenny-Caffey syndrome, type 2, 127000 (3)
Keppen-Lubinsky syndrome, 614098 (3)
Keratitis, 148190 (3)
Keratitis-ichthyosis-deafness syndrome, 148210 (3)
Keratoconus 1, 148300 (3)
Keratoconus 2 (2)
Keratoconus 3 (2)
Keratoconus 4 (2)
Keratoconus 5 (2)
Keratoconus 6 (2)
Keratoconus 7 (2)
Keratoconus 8 (2)
Keratoconus 9, 617928 (3)
Keratoderma, palmoplantar, punctate type IA, 148600 (3)
Keratoderma, palmoplantar, punctate type IB (2)
Keratoderma, palmoplantar, with deafness, 148350 (3)
Keratoendothelitis fugax hereditaria, 148200 (3)
{Systemic lupus erythematosus with nephritis, susceptibility to, 3} (2)
{Systemic lupus erythematosus, resistance to}, 601744 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
{Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3)
{Systemic lupus erythematosus, susceptibility to, 12} (2)
{Systemic lupus erythematosus, susceptibility to, 13} (2)
{Systemic lupus erythematosus, susceptibility to, 14} (2)
{Systemic lupus erythematosus, susceptibility to, 15} (2)
{Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
{Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3)
{Systemic lupus erythematosus, susceptibility to, 3} (2)
{Systemic lupus erythematosus, susceptibility to, 4} (2)
{Systemic lupus erythematosus, susceptibility to, 5} (2)
{Systemic lupus erythematosus, susceptibility to, 6} (2)
{Systemic lupus erythematosus, susceptibility to, 7} (2)
{Systemic lupus erythematosus, susceptibility to, 8} (2)
?Epilepsy, familial temporal lobe, 8, 616461 (3)
Keratolytic winter erythema (2)
Keratolytic winter erythema, 148370 (4)
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Keratosis, seborrheic, somatic, 182000 (3)
Keutel syndrome, 245150 (3)
Kindler syndrome, 173650 (3)
King-Denborough syndrome, 145600 (3)
Kleefstra syndrome 1, 610253 (3)
Kleefstra syndrome 2, 617768 (3)
Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)
Klippel-Feil syndrome 2, 214300 (3)
Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
Klippel-Trenaunay-Weber syndrome (2)
Kniest dysplasia, 156550 (3)
Knobloch syndrome, type 1, 267750 (3)
Kohlschutter-Tonz syndrome, 226750 (3)
Kondoh syndrome (2)
Koolen-De Vries syndrome, 610443 (3)
Kosaki overgrowth syndrome, 616592 (3)
Kowarski syndrome, 262650 (3)
Krabbe disease, 245200 (3)
Krabbe disease, atypical, 611722 (3)
Kufor-Rakeb syndrome, 606693 (3)
Kyphoscoliosis 1 (2)
L-2-hydroxyglutaric aciduria, 236792 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
LADD syndrome, 149730 (3)
{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
{T-cell acute lymphoblastic leukemia} (3)
?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
?Epilepsy, progressive myoclonic, 10, 616640 (3)
?Epilepsy, progressive myoclonic, 8, 616230 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
?Epileptic encephalopathy, early infantile, 15, 615006 (3)
?Epileptic encephalopathy, early infantile, 21, 615833 (3)
{TSC2 angiomyolipomas, renal, modifier of}, 613254 (3)
{Thiopurines, poor metabolism of, 1}, 610460 (3)
{Thiopurines, poor metabolism of, 2}, 616903 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
{Thyroid cancer, nonmedullary, 1}, 188550 (3)
{Thyroid cancer, nonmedullary, 2}, 188470 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
LADD syndrome, 149730 (3)
LADD syndrome, 149730 (3)
LCHAD deficiency, 609016 (3)
LDL cholesterol level QTL2, 143890 (3)
LEOPARD syndrome 1, 151100 (3)
LEOPARD syndrome 2, 611554 (3)
LEOPARD syndrome 3, 613707 (3)
LIG4 syndrome, 606593 (3)
Lactase deficiency, congenital, 223000 (3)
Lactase persistence/nonpersistence, 223100 (3)
Lacticacidemia due to PDX1 deficiency, 245349 (3)
Laing distal myopathy, 160500 (3)
Lamb-Shaffer syndrome, 616803 (3)
Langer mesomelic dysplasia, 249700 (3)
Langer mesomelic dysplasia, 249700 (3)
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3)
Laron dwarfism, 262500 (3)
Larsen syndrome, 150250 (3)
Larsen-like syndrome (2)
Laryngoonychocutaneous syndrome, 245660 (3)
Lateral meningocele syndrome, 130720 (3)
Lathosterolosis, 607330 (3)
Laurin-Sandrow syndrome, 135750 (3)
Leber congenital amaurosis 1, 204000 (3)
Leber congenital amaurosis 10, 611755 (3)
Leber congenital amaurosis 11, 613837 (3)
Leber congenital amaurosis 12, 610612 (3)
Leber congenital amaurosis 13, 612712 (3)
Leber congenital amaurosis 14, 613341 (3)
Leber congenital amaurosis 15, 613843 (3)
Leber congenital amaurosis 16, 614186 (3)
Leber congenital amaurosis 17, 615360 (3)
Leber congenital amaurosis 18, 608133 (3)
Leber congenital amaurosis 2, 204100 (3)
Leber congenital amaurosis 3, 604232 (3)
Leber congenital amaurosis 4, 604393 (3)
{Thyroid carcinoma, Hurthle cell}, 607464 (3)
{Thyroid carcinoma, follicular}, 188470 (3)
{Thyroid carcinoma, nonmedullary, 3} (2)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 3} (2)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Transcription of plasminogen activator inhibitor, modulator of} (3)
{Tuberculosis infection, protection against}, 607948 (3)
{Tuberculosis, protection against}, 607948 (3)
{Tuberculosis, protection against}, 607948 (3)
{Tuberculosis, susceptibility to} (2)
{Tuberculosis, susceptibility to}, 607948 (3)
{Tuberculosis, susceptibility to}, 607948 (3)
{UV-induced skin damage}, 266300 (3)
{Unipolar depression, susceptibility to}, 608516 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
Leber congenital amaurosis 5, 604537 (3)
Leber congenital amaurosis 6, 613826 (3)
Leber congenital amaurosis 7, 613829 (3)
Leber congenital amaurosis 8, 613835 (3)
Leber congenital amaurosis 9, 608553 (3)
Leber congenital amaurosis with early-onset deafness, 617879 (3)
Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
Left ventricular noncompaction 10, 615396 (3)
Left ventricular noncompaction 2 (2)
Left ventricular noncompaction 3, 601493 (3)
Left ventricular noncompaction 4, 613424 (3)
Left ventricular noncompaction 5, 613426 (3)
Left ventricular noncompaction 6, 601494 (3)
MODY, type IV, 606392 (3)
Machado-Joseph disease, 109150 (3)
Macrocephaly, acquired, with impaired intellectual development, 618286 (3)
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
Macrocephaly/autism syndrome, 605309 (3)
Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
Macrodactyly, somatic, 155500 (3)
Macroglobulinemia, Waldenstrom, somatic, 153600 (3)
Macrophthalmia, colobomatous, with microcornea (4)
Macrostomia (2)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
Macular corneal dystrophy, 217800 (3)
Macular degeneration, X-linked atrophic, 300834 (3)
Macular degeneration, age-related, 10 (2)
{Vascular disease, susceptibility to} (3)
{Venoocclusive disease after bone marrow transplantation} (3)
{Venous thromboembolism, susceptibility to}, 188050 (3)
{Venous thrombosis, protection against}, 188050 (3)
{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
{Vitamin B6 plasma level QTL 1} (2)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 6} (2)
{Warfarin sensitivity}, 122700 (3)
{West nile virus, susceptibility to}, 610379 (3)
{Wilms tumor 6, susceptibility to}, 616806 (3)
{Wilms tumor susceptibility-5}, 601583 (3)
{Yao syndrome}, 617321 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
?Epileptic encephalopathy, early infantile, 40, 617065 (3)
?Epileptic encephalopathy, early infantile, 55, 617599 (3)
?Epileptic encephalopathy, early infantile, 57, 617771 (3)
Macular degeneration, age-related, 3, 608895 (3)
Macular degeneration, early-onset, 616118 (3)
Macular degeneration, juvenile, 248200 (3)
Macular dystrophy with central cone involvement, 616170 (3)
Macular dystrophy, North Carolina type, 136550 (3)
Macular dystrophy, butterfly-shaped pigmentary, 2 (2)
Macular dystrophy, dominant cystoid (2)
Macular dystrophy, patterned, 1, 169150 (3)
Macular dystrophy, patterned, 2, 608970 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Macular dystrophy, retinal, 3 (2)
Macular dystrophy, vitelliform, 2, 153700 (3)
Macular dystrophy, vitelliform, 3, 608161 (3)
Macular dystrophy, vitelliform, 4, 616151 (3)
Macular dystrophy, vitelliform, 5, 616152 (3)
Majeed syndrome, 609628 (3)
Major affective disorder 4 (2)
Major depressive disorder 1, 608516 (2)
Major depressive disorder 2, 608516 (2)
Malignant fibrous histiocytoma (2)
Malonyl-CoA decarboxylase deficiency, 248360 (3)
Malouf syndrome, 212112 (3)
Mammary-digital-nail syndrome (2)
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
Mandibuloacral dysplasia, 248370 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Mannosidosis, alpha-, types I and II, 248500 (3)
Maple syrup urine disease, type II, 248600 (3)
Maple syrup urine disease, type Ia, 248600 (3)
Maple syrup urine disease, type Ib, 248600 (3)
?Epileptic encephalopathy, early infantile, 61, 617933 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Marinesco-Sjogren syndrome, 248800 (3)
Marshall syndrome, 154780 (3)
Marshall-Smith syndrome, 602535 (3)
Martsolf syndrome, 212720 (3)
Mast syndrome, 248900 (3)
Mastocytosis, cutaneous, 154800 (3)
Mastocytosis, systemic, somatic, 154800 (3)
Maturity-onset diabetes of the young 6, 606394 (3)
Maturity-onset diabetes of the young, type 10, 613370 (3)
Maturity-onset diabetes of the young, type 11, 613375 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
Maturity-onset diabetes of the young, type IX, 612225 (3)
Maturity-onset diabetes of the young, type VII, 610508 (3)
Maturity-onset diabetes of the young, type VIII, 609812 (3)
McArdle disease, 232600 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
McKusick-Kaufman syndrome, 236700 (3)
McLeod syndrome with or without chronic granulomatous disease, 300842 (3)
Meacham syndrome, 608978 (3)
Mean platelet volume QTL4 (2)
Mean platelet volume QTL5 (2)
Mean platelet volume QTL6 (2)
Meckel syndrome 1, 249000 (3)
Meckel syndrome 11, 615397 (3)
Meckel syndrome 13, 617562 (3)
Meckel syndrome 2, 603194 (3)
Meckel syndrome 3, 607361 (3)
Meckel syndrome 4, 611134 (3)
Meckel syndrome 5, 611561 (3)
Meckel syndrome 6, 612284 (3)
Meckel syndrome 7, 267010 (3)
Meconium ileus, 614665 (3)
Medullary cystic kidney disease 1, 174000 (3)
Medullary cystic kidney disease 2, 603860 (3)
Medullary thyroid carcinoma, 155240 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
Medulloblastoma, desmoplastic, 155255 (3)
Medulloblastoma, somatic, 155255 (3)
Medulloblastoma, somatic, 155255 (3)
Meesmann corneal dystrophy, 122100 (3)
Meesmann corneal dystrophy, 122100 (3)
Meester-Loeys syndrome, 300989 (3)
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
Megakaryoblastic leukemia, acute (2)
Megakaryoblastic leukemia, acute (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3)
Megaloblastic anemia-1, Finnish type, 261100 (3)
Megaloblastic anemia-1, Norwegian type, 261100 (3)
Megalocornea 1, X-linked 309300 (3)
Meier-Gorlin syndrome 1, 224690 (3)
Meier-Gorlin syndrome 2, 613800 (3)
Meier-Gorlin syndrome 3, 613803 (3)
Meier-Gorlin syndrome 4, 613804 (3)
Meier-Gorlin syndrome 6, 616835 (3)
Meier-Gorlin syndrome 7, 617063 (3)
Melanocytic nevus syndrome, congenital, somatic, 137550 (3)
Melanoma and neural system tumor syndrome, 155755 (3)
Melanoma, malignant, somatic (3)
Melanoma, malignant, somatic (3)
Meleda disease, 248300 (3)
Melnick-Needles syndrome, 309350 (3)
Meningioma, 607174 (3)
Meningioma, NF2-related, somatic, 607174 (3)
Meningioma, SIS-related, 607174 (3)
Meningioma, radiation-induced (2)
Menke-Hennekam syndrome 1, 618332 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Menkes disease, 309400 (3)
Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3)
Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)
Mental retardation syndrome, X-linked, Armfield type (2)
Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Mental retardation with language impairment and with or without autistic features, 613670 (3)
Mental retardation, FRA12A type, 136630 (3)
Mental retardation, X-linked 1/78, 309530 (3)
Mental retardation, X-linked 102, 300958 (3)
Mental retardation, X-linked 103, 300982 (3)
Mental retardation, X-linked 104, 300983 (3)
Mental retardation, X-linked 105, 300984 (3)
Mental retardation, X-linked 106, 300997 (3)
Mental retardation, X-linked 12/35, 300957 (3)
Mental retardation, X-linked 14 (2)
Mental retardation, X-linked 19, 300844 (3)
Mental retardation, X-linked 2 (2)
Mental retardation, X-linked 20 (2)
Mental retardation, X-linked 21/34, 300143 (3)
Mental retardation, X-linked 23 (2)
Mental retardation, X-linked 29 and others, 300419 (3)
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Mental retardation, X-linked 30/47, 300558 (3)
Mental retardation, X-linked 41, 300849 (3)
Mental retardation, X-linked 42 (2)
Mental retardation, X-linked 46 (2)
Mental retardation, X-linked 50 (2)
Mental retardation, X-linked 52 (2)
Mental retardation, X-linked 53 (2)
Mental retardation, X-linked 58, 300210 (3)
Mental retardation, X-linked 63, 300387 (3)
Mental retardation, X-linked 72, 300271 (3)
Mental retardation, X-linked 73 (2)
Mental retardation, X-linked 77 (2)
Mental retardation, X-linked 81 (2)
Mental retardation, X-linked 82 (2)
Mental retardation, X-linked 84 (2)
Mental retardation, X-linked 88 (2)
Mental retardation, X-linked 89 (2)
Mental retardation, X-linked 9/44, 309549 (3)
Mental retardation, X-linked 90, 300850 (3)
Mental retardation, X-linked 92 (2)
Mental retardation, X-linked 93, 300659 (3)
Mental retardation, X-linked 94, 300699 (3)
Mental retardation, X-linked 95 (2)
Mental retardation, X-linked 96, 300802 (3)
Mental retardation, X-linked 97, 300803 (3)
Mental retardation, X-linked 98, 300912 (3)
Mental retardation, X-linked 99, 300919 (3)
Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3)
Mental retardation, X-linked syndromic 16, 305400 (3)
Mental retardation, X-linked syndromic 5, 304340 (3)
Mental retardation, X-linked syndromic 7 (2)
Mental retardation, X-linked syndromic, Abidi type (2)
Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
Mental retardation, X-linked syndromic, Lubs type, 300260 (3)
Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)
Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
?Epiphyseal dysplasia, multiple, 6, 614135 (3)
Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Mental retardation, X-linked, 300495 (3)
Mental retardation, X-linked, FRAXE type, 309548 (3)
Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
Mental retardation, X-linked, syndromic 13, 300055 (3)
Mental retardation, X-linked, syndromic 14, 300676 (3)
Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Mental retardation, X-linked, syndromic 17 (2)
Mental retardation, X-linked, syndromic 33, 300966 (3)
Mental retardation, X-linked, syndromic 34, 300967 (3)
Mental retardation, X-linked, syndromic 9 (2)
Mental retardation, X-linked, syndromic, 35, 300998 (3)
Mental retardation, X-linked, syndromic, Bain type, 300986 (3)
Mental retardation, X-linked, syndromic, Chudley-Schwartz type (2)
Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Mental retardation, X-linked, syndromic, Hedera type, 300423 (3)
Mental retardation, X-linked, syndromic, Houge type, 301008 (3)
Mental retardation, X-linked, syndromic, Martin-Probst type (2)
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)
Mental retardation, X-linked, with short stature (2)
Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
Mental retardation, autosomal dominant 1, 156200 (3)
?Episodic pain syndrome, familial, 1, 615040 (3)
?Exercise intolerance, riboflavin-responsive, 616839 (3)
?Exudative vitreoretinopathy 6, 616468 (3)
?FG syndrome 2, 300321 (3)
?Facial clefting, oblique, 1, 600251 (3)
?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)
?Familial cold autoinflammatory syndrome 4, 616115 (3)
?Fanconi anemia, complementation group R, 617244 (3)
?Fanconi anemia, complementation group U, 617247 (3)
?Fanconi anemia, complementation group V, 617243 (3)
?Fanconi anemia, complementation group W, 617784 (3)
?Fanconi renotubular syndrome 2, 613388 (3)
?Fanconi renotubular syndrome 3, 615605 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Mental retardation, autosomal dominant 18, 615074 (3)
Mental retardation, autosomal dominant 19, 615075 (3)
Mental retardation, autosomal dominant 2 (4)
Mental retardation, autosomal dominant 21, 615502 (3)
Mental retardation, autosomal dominant 22, 612337 (3)
Mental retardation, autosomal dominant 23, 615761 (3)
Mental retardation, autosomal dominant 24, 615828 (3)
Mental retardation, autosomal dominant 26, 615834 (3)
Mental retardation, autosomal dominant 27, 615866 (3)
Mental retardation, autosomal dominant 29, 616078 (3)
Mental retardation, autosomal dominant 3, 612580 (3)
Mental retardation, autosomal dominant 30, 616083 (3)
Mental retardation, autosomal dominant 31, 616158 (3)
Mental retardation, autosomal dominant 32, 616268 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
Mental retardation, autosomal dominant 34, 616351 (3)
Mental retardation, autosomal dominant 35, 616355 (3)
Mental retardation, autosomal dominant 36, 616362 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
Mental retardation, autosomal dominant 39, 616521 (3)
Mental retardation, autosomal dominant 4 (2)
Mental retardation, autosomal dominant 40, 616579 (3)
Mental retardation, autosomal dominant 41 , 616944 (3)
Mental retardation, autosomal dominant 42, 616973 (3)
Mental retardation, autosomal dominant 43, 616977 (3)
Mental retardation, autosomal dominant 44, 617061 (3)
Mental retardation, autosomal dominant 45, 617600 (3)
Mental retardation, autosomal dominant 46, 617601 (3)
Mental retardation, autosomal dominant 47, 617635 (3)
Mental retardation, autosomal dominant 48, 617751 (3)
Mental retardation, autosomal dominant 49, 617752 (3)
Neu-Laxova syndrome 1, 256520 (3)
Mental retardation, autosomal dominant 5, 612621 (3)
Mental retardation, autosomal dominant 50, 617787 (3)
Mental retardation, autosomal dominant 51, 617788 (3)
Mental retardation, autosomal dominant 52, 617796 (3)
Mental retardation, autosomal dominant 53, 617798 (3)
Mental retardation, autosomal dominant 54, 617799 (3)
Mental retardation, autosomal dominant 55, with seizures, 617831 (3)
Mental retardation, autosomal dominant 56, 617854 (3)
Mental retardation, autosomal dominant 57, 618050 (3)
Mental retardation, autosomal dominant 58, 618106 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
Mental retardation, autosomal dominant 7, 614104 (3)
Mental retardation, autosomal dominant 9, 614255 (3)
Mental retardation, autosomal recessive 1, 249500 (3)
Mental retardation, autosomal recessive 10/20 (2)
Mental retardation, autosomal recessive 12, 611090 (3)
Mental retardation, autosomal recessive 13, 613192 (3)
Mental retardation, autosomal recessive 14, 614020 (3)
Mental retardation, autosomal recessive 15, 614202 (3)
Mental retardation, autosomal recessive 16 (2)
Mental retardation, autosomal recessive 18, 614249 (3)
Mental retardation, autosomal recessive 19 (2)
Mental retardation, autosomal recessive 2, 607417 (3)
Mental retardation, autosomal recessive 23 (2)
Mental retardation, autosomal recessive 24 (2)
Mental retardation, autosomal recessive 25 (2)
Mental retardation, autosomal recessive 27, 614340 (3)
Mental retardation, autosomal recessive 28 (2)
Mental retardation, autosomal recessive 29 (2)
Mental retardation, autosomal recessive 3, 608443 (3)
Mental retardation, autosomal recessive 30 (2)
Mental retardation, autosomal recessive 31 (2)
?Fazio-Londe disease, 211500 (3)
Mental retardation, autosomal recessive 33 (2)
Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3)
Mental retardation, autosomal recessive 35 (2)
Mental retardation, autosomal recessive 36, 615286 (3)
Mental retardation, autosomal recessive 38, 615516 (3)
Mental retardation, autosomal recessive 39, 615541 (3)
Mental retardation, autosomal recessive 40, 615599 (3)
Mental retardation, autosomal recessive 41, 615637 (3)
Mental retardation, autosomal recessive 42, 615802 (3)
Microphthalmia, isolated 2, 610093 (3)
Microphthalmia, isolated 3, 611038 (3)
Microphthalmia, isolated 4, 613094 (3)
Microphthalmia, isolated 5, 611040 (3)
Microphthalmia, isolated 6, 613517 (3)
Microphthalmia, isolated 7, 613704 (3)
Microphthalmia, isolated 8, 615113 (3)
Microphthalmia, isolated, with coloboma 10, 616428 (3)
Microphthalmia, isolated, with coloboma 7, 614497 (3)
Microphthalmia, isolated, with coloboma 8, 601186 (3)
Microphthalmia, isolated, with coloboma 9, 615145 (3)
Microphthalmia, syndromic 12, 615524 (3)
Microphthalmia, syndromic 2, 300166 (3)
Microphthalmia, syndromic 3, 206900 (3)
Microphthalmia, syndromic 5, 610125 (3)
Microphthalmia, syndromic 6, 607932 (3)
Microphthalmia, syndromic 8 (2)
Microphthalmia, syndromic 9, 601186 (3)
Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
Microtia with nasolacrimal duct imperforation and eye coloboma (4)
Microtia with or without hearing impairment (AD), 612290 (3)
Microvillus inclusion disease, 251850 (3)
Mental retardation, autosomal recessive 44, 615942 (3)
Mental retardation, autosomal recessive 46, 616116 (3)
Mental retardation, autosomal recessive 47, 616193 (3)
Mental retardation, autosomal recessive 48, 616269 (3)
Mental retardation, autosomal recessive 49, 616281 (3)
Mental retardation, autosomal recessive 5, 611091 (3)
Mental retardation, autosomal recessive 51, 616739 (3)
Mental retardation, autosomal recessive 53, 616917 (3)
Mental retardation, autosomal recessive 54, 617028 (3)
Mental retardation, autosomal recessive 55, 617051 (3)
Mental retardation, autosomal recessive 56, 617125 (3)
Mental retardation, autosomal recessive 57, 617188 (3)
Mental retardation, autosomal recessive 58, 617270 (3)
Mental retardation, autosomal recessive 59, 617323 (3)
Mental retardation, autosomal recessive 60, 617432 (3)
Mental retardation, autosomal recessive 61, 617773 (3)
Mental retardation, autosomal recessive 64, 618103 (3)
Mental retardation, autosomal recessive 65, 618109 (3)
Mental retardation, autosomal recessive 66, 618221 (3)
Mental retardation, autosomal recessive 67, 618295 (3)
Mental retardation, autosomal recessive 68, 618302 (3)
Mental retardation, autosomal recessive 7, 611093 (3)
Mental retardation, autosomal recessive, 11 (2)
Mental retardation, autosomal recessive, 4 (2)
Mental retardation, autosomal recessive, 6, 611092 (3)
Mental retardation, autosomal recessive, 9/26 (2)
Mental retardation, severe, with spasticity and tapetoretinal degeneration (2)
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
Mental retardation, with or without nystagmus, 300422 (3)
Mental retardation,X-linked 45 (2)
Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Mental retardation-skeletal dysplasia (2)
Mephenytoin poor metabolizer, 609535 (3)
Mesomelia-synostoses syndrome (4)
Mesomelic dysplasia, Kantaputra type (2)
Mesothelioma, somatic, 156240 (3)
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3)
Metacarpal 4-5 fusion, 309630 (3)
Metachondromatosis, 156250 (3)
Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Metachromatic leukodystrophy, 250100 (3)
Metaphyseal anadysplasia 1, 602111 (3)
Metaphyseal anadysplasia 2, 613073 (3)
Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3)
Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3)
Metaphyseal dysplasia without hypotrichosis, 250460 (3)
Metaphyseal dysplasia, Spahr type, 250400 (3)
Metatropic dysplasia, 156530 (3)
Methemoglobinemia and ambiguous genitalia, 250790 (3)
Methemoglobinemia, alpha type, 617973 (3)
Methemoglobinemia, type I, 250800 (3)
Methemoglobinemia, type II, 250800 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
Methmoglobinemia, beta type, 617971 (3)
Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)
Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3)
Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
?Febrile seizures, familial, 4, 604352 (3)
Methylmalonic aciduria, cblD type, variant 2, 277410 (3)
Methylmalonic aciduria, mut(0) type, 251000 (3)
Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Methylmalonyl-CoA epimerase deficiency, 251120 (3)
Mevalonic aciduria, 610377 (3)
Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Microcephaly 1, primary, autosomal recessive, 251200 (3)
Microcephaly 10, primary, autosomal recessive, 615095 (3)
Microcephaly 15, primary, autosomal recessive, 616486 (3)
Microcephaly 17, primary, autosomal recessive, 617090 (3)
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Microcephaly 20, primary, autosomal recessive, 617914 (3)
Microcephaly 22, primary, autosomal recessive, 617984 (3)
Microcephaly 3, primary, autosomal recessive, 604804 (3)
Microcephaly 4, primary, autosomal recessive, 604321 (3)
Microcephaly 5, primary, autosomal recessive, 608716 (3)
Microcephaly 6, primary, autosomal recessive, 608393 (3)
Microcephaly 7, primary, autosomal recessive, 612703 (3)
Microcephaly 8, primary, autosomal recessive, 614673 (3)
Microcephaly 9, primary, autosomal recessive, 614852 (3)
Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3)
Microcephaly, Amish type, 607196 (3)
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3)
Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3)
Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)
Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Microcephaly, seizures, and developmental delay, 613402 (3)
Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3)
Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)
Microcephaly, short stature, and limb abnormalities, 617604 (3)
Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
Microcephaly-capillary malformation syndrome, 614261 (3)
Microcephaly-micromelia syndrome, 251230 (3)
Microcoria, congenital (4)
Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Microphthalmia with cataract 1 (2)
Microphthalmia with coloboma 1 (2)
Microphthalmia with coloboma 2 (2)
Microphthalmia with coloboma 3, 610092 (3)
Microphthalmia with coloboma 5, 611638 (3)
Microphthalmia with coloboma 6, 613703 (3)
Microphthalmia with coloboma 6, digenic, 613703 (3)
Microphthalmia with limb anomalies, 206920 (3)
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3)
Migraine, familial basilar, 602481 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Migraine, familial hemiplegic, 2, 602481 (3)
Migraine, familial hemiplegic, 3, 609634 (3)
Miller syndrome, 263750 (3)
Miller-Dieker lissencephaly syndrome (4)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
Mirror movements 2, 614508 (3)
Mirror movements 4, 618264 (3)
Mismatch repair cancer syndrome, 276300 (3)
Mismatch repair cancer syndrome, 276300 (3)
Mismatch repair cancer syndrome, 276300 (3)
Mismatch repair cancer syndrome, 276300 (3)
Mitchell-Riley syndrome, 615710 (3)
Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Mitochondrial DNA depletion syndrome 11, 615084 (3)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3)
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
?Fetal akinesia deformation sequence, 208150 (3)
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
Mitochondrial complex I deficiency, nuclear type 12, 301020 (3)
Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
Mitochondrial complex I deficiency, nuclear type 16, 618238 (3)
Mitochondrial complex I deficiency, nuclear type 17, 618239 (3)
Mitochondrial complex I deficiency, nuclear type 18, 618240 (3)
Mitochondrial complex I deficiency, nuclear type 19, 618241 (3)
Mitochondrial complex I deficiency, nuclear type 2, 618222 (3)
Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)
Mitochondrial complex I deficiency, nuclear type 21, 618242 (3)
Mitochondrial complex I deficiency, nuclear type 22, 618243 (3)
Mitochondrial complex I deficiency, nuclear type 25, 618246 (3)
Mitochondrial complex I deficiency, nuclear type 26, 618247 (3)
Mitochondrial complex I deficiency, nuclear type 27, 618248 (3)
Mitochondrial complex I deficiency, nuclear type 29, 618250 (3)
Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
?Fibromatosis, gingival, 1, 135300 (3)
?Focal cortical dysplasia, type II, somatic, 607341 (3)
?Frontonasal dysplasia 3, 613456 (3)
?Galloway-Mowat syndrome 8, 618349 (3)
?Giant axonal neuropathy 2, autosomal dominant, 610100 (3)
?Glucocorticoid deficiency 5, 617825 (3)
?Glutathioninuria, 231950 (3)
?Glycine encephalopathy, 605899 (3)
?Glycogen storage disease XIII, 612932 (3)
?Glycogen storage disease XV, 613507 (3)
?Glycoprotein Ia deficiency, 614200 (1)
?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
?Growth hormone deficiency, isolated, type V, 618160 (3)
?Growth restriction, severe, with distinctive facies, 616489 (3)
?Hairy ears, Y-linked (2)
Mitochondrial complex I deficiency, nuclear type 31, 618251 (3)
Mitochondrial complex I deficiency, nuclear type 32, 618252 (3)
Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)
Mitochondrial complex I deficiency, nuclear type 4, 618225 (3)
Mitochondrial complex I deficiency, nuclear type 5, 618226 (3)
Mitochondrial complex I deficiency, nuclear type 6, 618228 (3)
Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)
Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
Mitochondrial complex II deficiency, 252011 (3)
Mitochondrial complex II deficiency, 252011 (3)
Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)
Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)
Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)
Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
Mitochondrial complex III deficiency, nuclear type 8, 615838 (3)
Mitochondrial complex IV deficiency, 220110 (3)
Mitochondrial complex IV deficiency, 220110 (3)
Mitochondrial complex IV deficiency, 220110 (3)
Mitochondrial complex IV deficiency, 220110 (3)
Mitochondrial complex IV deficiency, 220110 (3)
?Hemochromatosis, type 5, 615517 (3)
?Hemolytic anemia, congenital, X-linked, 301015 (3)
?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
?Hepatocellular carcinoma (1)
?Hermansky-Pudlak syndrome 10, 617050 (3)
?Hermansky-pudlak syndrome 9, 614171 (3)
?Heterotaxy, visceral, 3, autosomal (2)
?Hip dysplasia, Beukes type, 142669 (3)
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)
?Hydrocephalus, autosomal dominant (2)
?Hydrolethalus syndrome 2, 614120 (3)
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
?Hydroxykynureninuria, 236800 (3)
?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3)
?Hypercholanemia, familial, 607748 (3)
?Hyperimmunoglobulin G1 syndrome (2)
Mitochondrial complex IV deficiency, 220110 (3)
Mitochondrial complex IV deficiency, 220110 (3)
Mitochondrial complex V (ATP synthase) deficiency, 618120 (3)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
Mitochondrial phosphate carrier deficiency, 610773 (3)
Mitochondrial pyruvate carrier deficiency, 614741 (3)
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Mitral valve prolapse 2, 607829 (3)
Mitral valve prolapse, myxomatous 1 (2)
Mitral valve prolapse, myxomatous 3 (2)
Miyoshi muscular dystrophy 1, 254130 (3)
Miyoshi muscular dystrophy 2 (2)
Miyoshi muscular dystrophy 3, 613319 (3)
Mohr-Tranebjaerg syndrome, 304700 (3)
Molybdenum cofactor deficiency A, 252150 (3)
Molybdenum cofactor deficiency B, 252160 (3)
Molybdenum cofactor deficiency C, 615501 (3)
Monilethrix, 158000 (3)
Monilethrix, 158000 (3)
Monilethrix, 158000 (3)
Monocarboxylate transporter 1 deficiency, 616095 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
Morbid obesity and spermatogenic failure, 615703 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
Mosaic variegated aneuploidy syndrome 2, 614114 (3)
Mosaic variegated aneuploidy syndrome 3, 617598 (3)
Mowat-Wilson syndrome, 235730 (3)
Moyamoya 6 with achalasia, 615750 (3)
Moyamoya disease (2)
Moyamoya disease 3 (2)
Moyamoya disease 4 (4)
Moyamoya disease 5, 614042 (3)
Muckle-Wells syndrome, 191900 (3)
Mucoepidermoid salivary gland carcinoma (3)
Mucoepidermoid salivary gland carcinoma (3)
Mucolipidosis II alpha/beta, 252500 (3)
Mucolipidosis III alpha/beta, 252600 (3)
Mucolipidosis III gamma, 252605 (3)
Mucolipidosis IV, 252650 (3)
Mucopolysaccharidosis II, 309900 (3)
Mucopolysaccharidosis IVA, 253000 (3)
Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
Mucopolysaccharidosis VII, 253220 (3)
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Mucopolysaccharidosis type IIID, 252940 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
Mucopolysaccharidosis-plus syndrome, 617303 (3)
Muenke syndrome, 602849 (3)
Muir-Torre syndrome, 158320 (3)
Muir-Torre syndrome, 158320 (3)
Mulchandani-Bhoj-Conlin syndrome, 617352 (3)
Mulibrey nanism, 253250 (3)
Mullerian aplasia and hyperandrogenism, 158330 (3)
Multicentric carpotarsal osteolysis syndrome, 166300 (3)
Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Hyperleucinemia-isoleucinemia or hypervalinemia (1)
Multiple endocrine neoplasia 1, 131100 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Multiple endocrine neoplasia, type IV, 610755 (3)
Multiple fibroadenomas of the breast, 615554 (3)
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3)
Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3)
Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
Multiple mitochondrial dysfunctions syndrome 5, 617613 (3)
Multiple mitochondrial dysfunctions syndrome 6, 617954 (3)
Multiple pterygium syndrome, lethal type, 253290 (3)
Multiple pterygium syndrome, lethal type, 253290 (3)
Multiple pterygium syndrome, lethal type, 253290 (3)
Multiple sulfatase deficiency, 272200 (3)
Multiple synostoses syndrome 1, 186500 (3)
Multiple synostoses syndrome 2, 610017 (3)
Multiple synostoses syndrome 3, 612961 (3)
Multiple synostoses syndrome 4, 617898 (3)
Multisystemic smooth muscle dysfunction syndrome, 613834 (3)
Mungan syndrome (2)
Muscle glycogenosis, 300559 (3)
Muscle hypertrophy, 614160 (3)
Muscle strength quantitative trait locus 1 (2)
Muscular dystrophy with rimmed vacuoles (2)
Muscular dystrophy, congenital, 1B (2)
Muscular dystrophy, congenital, 613205 (3)
Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
Muscular dystrophy, congenital, megaconial type, 602541 (3)
Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, congenital, merosin-positive (2)
Specific language impairment QTL, 2 (2)
Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)
Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)
Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)
Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (3)
Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3)
Muscular dystrophy, limb-girdle, type 1H (2)
Muscular dystrophy, rigid spine, 1, 602771 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)
?Hyperostosis cranalis interna, 144755 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
?Hypertension, salt-resistant (1)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
Myasthenia gravis with thymus hyperplasia (2)
Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myasthenic syndrome, congenital, 19, 616720 (3)
Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3)
Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3)
Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3)
Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
Myasthenic syndrome, congenital, 22, 616224 (3)
Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)
Myasthenic syndrome, congenital, 25, 618323 (3)
Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)
Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)
Myasthenic syndrome, congenital, 5, 603034 (3)
Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Myelodysplasia and leukemia syndrome with monosomy 7 (4)
Myelodysplasia syndrome-1 (3)
Myelodysplastic syndrome (3)
Myelodysplastic syndrome, preleukemic (3)
Myelodysplastic syndrome, somatic, 614286 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)
Myelofibrosis, somatic, 254450 (3)
Myelofibrosis, somatic, 254450 (3)
Myelofibrosis, somatic, 254450 (3)
Myelogenous leukemia, acute (3)
Myelogenous leukemia, acute (3)
Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1)
Myelokathexis, isolated (3)
Myeloperoxidase deficiency, 254600 (3)
Myeloproliferative disorder (2)
Myeloproliferative disorder with eosinophilia, 131440 (4)
Myhre syndrome, 139210 (3)
Myoclonic epilepsy, infantile, familial, 605021 (3)
Myoclonic epilepsy, juvenile, 4 (2)
Myoclonic-atonic epilepsy, 616421 (3)
Myoclonus, intractable, neonatal, 617235 (3)
Myofibromatosis, infantile, 1, 228550 (3)
Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
Myokymia, 121200 (3)
Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
Myopathy with extrapyramidal signs, 615673 (3)
Myopathy with lactic acidosis, hereditary, 255125 (3)
Myopathy, X-linked, with excessive autophagy, 310440 (3)
Myopathy, X-linked, with postural muscle atrophy, 300696 (3)
Myopathy, actin, congenital, with cores, 161800 (3)
Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
Myopathy, congenital, Baily-Bloch, 255995 (3)
Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
Myopathy, congenital, with fiber-type disproportion, 255310 (3)
Myopathy, congenital, with fiber-type disproportion, 255310 (3)
Myopathy, congenital, with fiber-type disproportion, X-linked (2)
Myopathy, distal 3 (2)
Myopathy, distal, 4, 614065 (3)
Myopathy, distal, 5, 617030 (3)
Myopathy, distal, Tateyama type, 614321 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
Myopathy, distal, with rimmed vacuoles, 617158 (3)
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)
Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
Myopathy, mitochondrial, and ataxia, 617675 (3)
Myopathy, myofibrillar, 1, 601419 (3)
Myopathy, myofibrillar, 2, 608810 (3)
Myopathy, myofibrillar, 3, 609200 (3)
Myopathy, myofibrillar, 4, 609452 (3)
Myopathy, myofibrillar, 5, 609524 (3)
Myopathy, myofibrillar, 6, 612954 (3)
Myopathy, myofibrillar, 7, 617114 (3)
Myopathy, myofibrillar, 8, 617258 (3)
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Myopathy, spheroid body, 182920 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3)
Myopia 10 (2)
Myopia 11 (2)
Myopia 12 (2)
Myopia 13 (2)
Myopia 14 (2)
Myopia 15 (2)
Myopia 16 (2)
Myopia 17 (2)
Myopia 18 (2)
Myopia 19 (2)
Myopia 20, autosomal dominant (2)
Myopia 21, autosomal dominant, 614167 (3)
Myopia 22, autosomal dominant, 615420 (3)
Myopia 23, autosomal recessive, 615431 (3)
Myopia 24, autosomal dominant, 615946 (3)
Myopia 25, autosomal dominant, 617238 (3)
Myopia 26, X-linked, female-limited, 301010 (3)
Myopia 5 (2)
Myopia 6, 608908 (3)
Myopia 7 (2)
Myopia 8 (2)
Myopia 9 (2)
Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)
Myopia-1 (2)
Myopia-2 (2)
Myopia-3 (2)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Myotonia congenita, dominant, 160800 (3)
Myotonia congenita, recessive, 255700 (3)
Myotonia levior, recessive (3)
Myotonic dystrophy 1, 160900 (3)
Myotonic dystrophy 2, 602668 (3)
Myotubular myopathy, X-linked, 310400 (3)
Myxoid liposarcoma (4)
?Hypertrichosis universalis congenita, Ambras type (2)
?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)
Myxoma, intracardiac, 255960 (3)
N-acetylglutamate synthase deficiency, 237310 (3)
NOR polyagglutination syndrome, 111400 (3)
Nablus mask-like facial syndrome (4)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)
Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)
Nail disorder, nonsyndromic congenital, 7 (2)
Nail disorder, nonsyndromic congenital, 9 (2)
Nail-patella syndrome, 161200 (3)
Nance-Horan syndrome, 302350 (3)
Nanophthalmos 2, 609549 (3)
Nanophthalmos 3 (2)
Nanophthalmos 4, 615972 (3)
Nanophthalmos-1 (2)
Narcolepsy 2 (2)
Narcolepsy 3 (2)
Narcolepsy 6 (2)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Naxos disease, 601214 (3)
Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
Nemaline myopathy 10, 616165 (3)
Nemaline myopathy 11, autosomal recessive, 617336 (3)
Nemaline myopathy 2, autosomal recessive, 256030 (3)
Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
Nemaline myopathy 5, Amish type, 605355 (3)
Nemaline myopathy 6, autosomal dominant, 609273 (3)
Nemaline myopathy 7, autosomal recessive, 610687 (3)
Nemaline myopathy 8, autosomal recessive, 615348 (3)
Nemaline myopathy 9, 615731 (3)
Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
Nephrolithiasis, type I, 310468 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
?Hypervalinemia or hyperleucine-isoleucinemia (1)
Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
Nephronophthisis 1, juvenile, 256100 (3)
Nephronophthisis 11, 613550 (3)
Nephronophthisis 12, 613820 (3)
Nephronophthisis 13, 614377 (3)
Nephronophthisis 14, 614844 (3)
Nephronophthisis 15, 614845 (3)
Nephronophthisis 16, 615382 (3)
Nephronophthisis 18, 615862 (3)
Nephronophthisis 19, 616217 (3)
Nephronophthisis 2, infantile, 602088 (3)
Nephronophthisis 20, 617271 (3)
Nephronophthisis 3, 604387 (3)
Nephronophthisis 4, 606966 (3)
Nephronophthisis 7, 611498 (3)
Nephronophthisis-like nephropathy 1, 613159 (3)
Nephropathy due to CFHR5 deficiency, 614809 (3)
Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
Nephropathy, progressive, with deafness (2)
Nephropathy-hypertension (2)
Nephrotic syndrome, type 1, 256300 (3)
Nephrotic syndrome, type 10, 615861 (3)
Nephrotic syndrome, type 11, 616730 (3)
Nephrotic syndrome, type 12, 616892 (3)
Nephrotic syndrome, type 14, 617575 (3)
Nephrotic syndrome, type 15, 617609 (3)
Nephrotic syndrome, type 16, 617783 (3)
Nephrotic syndrome, type 17, 618176 (3)
Nephrotic syndrome, type 18, 618177 (3)
Nephrotic syndrome, type 2, 600995 (3)
Nephrotic syndrome, type 3, 610725 (3)
Nephrotic syndrome, type 4, 256370 (3)
Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Nephrotic syndrome, type 6, 614196 (3)
Nephrotic syndrome, type 7, 615008 (3)
Nephrotic syndrome, type 8, 615244 (3)
Nephrotic syndrome, type 9, 615573 (3)
Nestor-Guillermo progeria syndrome, 614008 (3)
Neu-Laxova syndrome 2, 616038 (3)
Neural tube defects, 182940 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)
Neuroblastoma, 256700 (3)
Neurocutaneous melanosis, somatic, 249400 (3)
Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
Neurodegeneration with brain iron accumulation 4, 614298 (3)
Neurodegeneration with brain iron accumulation 5, 300894 (3)
Neurodegeneration with brain iron accumulation 6, 615643 (3)
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3)
Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)
Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3)
Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 (3)
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3)
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 (3)
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3)
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3)
Neurodevelopmental disorder with involuntary movements, 617493 (3)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3)
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 (3)
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3)
Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3)
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3)
Neurodevelopmental disorder with spasticity and poor growth, 618076 (3)
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities, 301022 (3)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3)
Neuroepithelioma, 612219 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)
Neurofibromatosis, type 2, 101000 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Neurofibrosarcoma, somatic (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
Neuronopathy, distal hereditary motor, type I (2)
Neuronopathy, distal hereditary motor, type IID, 615575 (3)
Neuronopathy, distal hereditary motor, type IX, 617721 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Neuronopathy, distal hereditary motor, type VIIA, 158580 (3)
Neuropathy, distal hereditary motor, type IIA, 158590 (3)
Neuropathy, distal hereditary motor, type IIB, 608634 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Neuropathy, distal hereditary motor, type VIIB, 607641 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Neuropathy, hereditary motor and sensory, type VIB, 616505 (3)
Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)
Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)
Neuropathy, hereditary sensory, type IB (2)
Neuropathy, hereditary sensory, type ID, 613708 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
Neuropathy, hereditary sensory, type IF, 615632 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
Neutral lipid storage disease with myopathy, 610717 (3)
Neutropenia, alloimmune neonatal (3)
Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)
Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
Neutropenia, severe congenital, X-linked, 300299 (3)
Neutrophil immunodeficiency syndrome, 608203 (3)
Nevus comedonicus, somatic, 617025 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Nevus, epidermal, somatic, 162900 (3)
Nevus, epidermal, somatic, 162900 (3)
Newfoundland rod-cone dystrophy, 607476 (3)
Nicolaides-Baraitser syndrome, 601358 (3)
Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
Niemann-pick disease, type C2, 607625 (3)
Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
Night blindness, congenital stationary, autosomal dominant 1, 610445 (3)
Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)
Night blindness, congenital stationary, type 1G, 616389 (3)
Night blindness, congenital stationary, type 1H, 617024 (3)
Nijmegen breakage syndrome, 251260 (3)
Nijmegen breakage syndrome-like disorder, 613078 (3)
Nonaka myopathy, 605820 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
Nonsmall cell lung cancer, somatic (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Noonan syndrome 1, 163950 (3)
Noonan syndrome 10, 616564 (3)
Noonan syndrome 2, 605275 (3)
Noonan syndrome 3, 609942 (3)
Noonan syndrome 4, 610733 (3)
Noonan syndrome 5, 611553 (3)
Noonan syndrome 6, 613224 (3)
Noonan syndrome 7, 613706 (3)
Noonan syndrome 8, 615355 (3)
Noonan syndrome 9, 616559 (3)
Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3)
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3)
Noonan-like syndrome with loose anagen hair, 607721 (3)
Norrie disease, 310600 (3)
North American Indian childhood cirrhosis (2)
Norum disease, 245900 (3)
Nystagmus 1, congenital, X-linked, 310700 (3)
?Hypotrichosis 13, 615896 (3)
?Hypotrichosis 3, 613981 (3)
?Hypotrichosis and recurrent skin vesicles, 613102 (3)
?Immunodeficiency 13, 615518 (3)
?Immunodeficiency 16, 615593 (3)
?Immunodeficiency 22, 615758 (3)
?Immunodeficiency 25, 610163 (3)
Nystagmus 2, congenital, autosomal dominant (2)
Nystagmus 3, congenital, autosomal dominant (2)
Nystagmus 4, congenital, autosomal dominant (2)
Nystagmus 5, congenital, X-linked (2)
Nystagmus 6, congenital, X-linked, 300814 (3)
Nystagmus 7, congenital, autosomal dominant (2)
Nystagmus, infantile periodic alternating, X-linked, 310700 (3)
OKT4 epitope deficiency, 613949 (3)
Obesity with impaired prohormone processing, 600955 (3)
Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
Obesity, autosomal dominant, 601665 (3)
Obesity, hyperphagia, and developmental delay, 613886 (3)
Obesity, mild, early-onset, 601665 (3)
Obesity, morbid, due to leptin deficiency, 614962 (3)
Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
Obesity, severe, 601665 (3)
Obesity, severe, 601665 (3)
Occipital horn syndrome, 304150 (3)
Occult macular dystrophy, 613587 (3)
Ocular albinism with sensorineural deafness (2)
Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Oculoauricular syndrome, 612109 (3)
Oculodentodigital dysplasia, 164200 (3)
Oculodentodigital dysplasia, autosomal recessive, 257850 (3)
Oculomotor apraxia, congenital, Cogan-type (2)
Oculopharyngeal muscular dystrophy, 164300 (3)
Odontohypophosphatasia, 146300 (3)
Odontoonychodermal dysplasia, 257980 (3)
Ogden syndrome, 300855 (3)
Oguchi disease-1, 258100 (3)
Oguchi disease-2, 613411 (3)
Ohdo syndrome, X-linked, 300895 (3)
Okur-Chung neurodevelopmental syndrome, 617062 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
?Immunodeficiency 37, 616098 (3)
Oliver-McFarlane syndrome, 275400 (3)
Olmsted syndrome, 614594 (3)
Omenn syndrome, 603554 (3)
Omenn syndrome, 603554 (3)
Omenn syndrome, 603554 (3)
Omeprazole poor metabolizer, 609535 (3)
Omodysplasia 1, 258315 (3)
Omodysplasia 2, 164745 (3)
Omphalocele due to duplication of 1p31.3 (4)
Oocyte maturation defect 1, 615774 (3)
Oocyte maturation defect 2, 616780 (3)
Oocyte maturation defect 3, 617712 (3)
Oocyte maturation defect 4, 617743 (3)
Oocyte maturation defect 5, 617996 (3)
Oocyte maturation defect 6, 618353 (3)
Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3)
Opitz GBBB syndrome, type I, 300000 (3)
Opitz GBBB syndrome, type II, 145410 (3)
Opitz-Kaveggia syndrome, 305450 (3)
Opsismodysplasia, 258480 (3)
Optic atrophy 1, 165500 (3)
Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
Optic atrophy 2, X-linked (2)
Optic atrophy 3 with cataract, 165300 (3)
Optic atrophy 4 (2)
Optic atrophy 5, 610708 (3)
Optic atrophy 6 (2)
Optic atrophy 7, 612989 (3)
Optic atrophy 8 (2)
Optic atrophy plus syndrome, 125250 (3)
Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)
Optic nerve hypoplasia, 165550 (3)
Ornithine transcarbamylase deficiency, 311250 (3)
Orofacial cleft 11, 600625 (3)
Orofacial cleft 12 (2)
?Immunodeficiency 39, 616345 (3)
Orofacial cleft 13 (2)
Orofacial cleft 14 (2)
Orofacial cleft 2 (2)
Orofacial cleft 3 (2)
Orofacial cleft 4 (2)
Orofacial cleft 5, 608874 (3)
Orofacial cleft 7, 225060 (3)
Orofacial cleft 8, 618149 (3)
Orofacial cleft 9 (2)
Orofacial cleft-1 (2)
Orofaciodigital syndrome I, 311200 (3)
Orofaciodigital syndrome IV, 258860 (3)
Orofaciodigital syndrome V, 174300 (3)
Orofaciodigital syndrome VI, 277170 (3)
Orofaciodigital syndrome XVI, 617563 (3)
Orolaryngeal cancer, multiple, (3)
Orotic aciduria, 258900 (3)
Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
Orthostatic hypotension 2, 618182 (3)
Orthostatic hypotensive disorder of Streeten (2)
Osseous heteroplasia, progressive, 166350 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Osteochondrodysplasia, 184260 (3)
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
Osteogenesis imperfecta, type IX, 259440 (3)
Osteogenesis imperfecta, type V, 610967 (3)
?Immunodeficiency 45, 616669 (3)
?Immunodeficiency 53, 617585 (3)
?Immunodeficiency 59 and hypoglycemia, 233600 (3)
?Immunodeficiency, common variable, 11, 615767 (3)
Osteogenesis imperfecta, type VI, 613982 (3)
Osteogenesis imperfecta, type VII, 610682 (3)
Osteogenesis imperfecta, type VIII, 610915 (3)
Osteogenesis imperfecta, type X, 613848 (3)
Osteogenesis imperfecta, type XI, 610968 (3)
Osteogenesis imperfecta, type XII, 613849 (3)
Osteogenesis imperfecta, type XIII, 614856 (3)
Osteogenesis imperfecta, type XIV, 615066 (3)
Osteogenesis imperfecta, type XIX, 301014 (3)
Osteogenesis imperfecta, type XV, 615220 (3)
Osteogenesis imperfecta, type XVI, 616229 (3)
Osteogenesis imperfecta, type XVII, 616507 (3)
Osteogenesis imperfecta, type XVIII, 617952 (3)
Osteoglophonic dysplasia, 166250 (3)
Osteolysis, familial expansile, 174810 (3)
Osteomalacia, tumor-induced (1)
Osteopathia striata with cranial sclerosis, 300373 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal dominant 3, 618107 (3)
Osteopetrosis, autosomal recessive 1, 259700 (3)
Osteopetrosis, autosomal recessive 2, 259710 (3)
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
Osteopetrosis, autosomal recessive 5, 259720 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
Osteopetrosis, autosomal recessive 8, 615085 (3)
Osteopoikilosis with or without melorheostosis, 166700 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosarcoma, somatic, 259500 (3)
Osteosarcoma, somatic, 259500 (3)
?Immunodeficiency, common variable, 14, 617765 (3)
Osteosclerosis, 144750 (3)
Otodental dysplasia chromosome deletion syndrome (4)
Otopalatodigital syndrome, type I, 311300 (3)
Otopalatodigital syndrome, type II, 304120 (3)
Otosclerosis 1 (2)
Otosclerosis 10 (2)
Otosclerosis 2 (2)
Otosclerosis 3 (2)
Otosclerosis 5 (2)
Otosclerosis 7 (2)
Otosclerosis 8 (2)
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
Ovalocytosis, SA type, 166900 (3)
Ovarian cancer, somatic, (3)
Ovarian cancer, somatic, 167000 (3)
Ovarian cancer, somatic, 167000 (3)
Ovarian cancer, somatic, 167000 (3)
Ovarian cancer, somatic, 167000 (3)
Ovarian cancer, somatic, 167000 (3)
Ovarian cancer, somatic, 167000 (3)
Ovarian carcinoma (1)
Ovarian carcinoma (3)
Ovarian dysgenesis 1, 233300 (3)
Ovarian dysgenesis 2, 300510 (3)
Ovarian dysgenesis 3, 614324 (3)
Ovarian dysgenesis 4, 616185 (3)
Ovarian dysgenesis 5, 617690 (3)
Ovarian dysgenesis 7, 618117 (3)
Ovarian hyperstimulation syndrome, 608115 (3)
Ovarian response to FSH stimulation, 276400 (3)
Ovarioleukodystrophy, 603896 (3)
Ovarioleukodystrophy, 603896 (3)
Ovarioleukodystrophy, 603896 (3)
Overhydrated hereditary stomatocytosis, 185000 (3)
PCWH syndrome, 609136 (3)
PEHO syndrome, 260565 (3)
PEPCK deficiency, mitochondrial, 261650 (1)
Pachyonychia congenita 1, 167200 (3)
Pachyonychia congenita 2, 167210 (3)
Pachyonychia congenita 3, 615726 (3)
Pachyonychia congenita 4, 615728 (3)
Paget disease of bone 3, 167250 (3)
Paget disease of bone 4 (2)
Paget disease of bone 5, juvenile-onset, 239000 (3)
Paget disease of bone 6, 616833 (3)
Pallister-Hall syndrome, 146510 (3)
Pallister-Killian syndrome (4)
Palmoplantar carcinoma, multiple self-healing (2)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
Palmoplantar keratoderma with congenital alopecia, 104100 (3)
Palmoplantar keratoderma, Bothnian type, 600231 (3)
Palmoplantar keratoderma, Nagashima type, 615598 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
Panbronchiolitis, diffuse (2)
Pancreatic agenesis 1, 260370 (3)
Pancreatic agenesis 2, 615935 (3)
Pancreatic agenesis and congenital heart defects, 600001 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
Pancreatic cancer, somatic (3)
Pancreatic cancer, somatic 260350 (3)
Pancreatic cancer, somatic, 260350 (3)
Pancreatic cancer, somatic, 260350 (3)
Pancreatic cancer/melanoma syndrome, 606719 (3)
Pancreatic carcinoma, somatic (3)
Pancreatic carcinoma, somatic, 260350 (3)
Pancreatitis, hereditary, 167800 (3)
Pancreatitis, hereditary, 167800 (3)
Panhypopituitarism, X-linked, 312000 (3)
Panic disorder 2 (2)
Panic disorder 3 (2)
Panic disorder syndrome 1 (2)
Papillon-Lefevre syndrome, 245000 (3)
Papillorenal syndrome, 120330 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 1, with or without deafness, 168000 (3)
Paragangliomas 2, 601650 (3)
Paragangliomas 3, 605373 (3)
Paragangliomas 4, 115310 (3)
Paragangliomas 5, 614165 (3)
Paramyotonia congenita, 168300 (3)
Parasomnia, sleepwalking type (2)
Parastremmatic dwarfism, 168400 (3)
Parathyroid adenoma with cystic changes, 145001 (3)
Parathyroid adenoma, somatic (3)
Parathyroid carcinoma, 608266 (3)
Parietal foramina 1, 168500 (3)
Parietal foramina 2, 609597 (3)
Parietal foramina 3 (2)
Parietal foramina with cleidocranial dysplasia, 168550 (3)
Parkinson disease 1, 168601 (3)
Parkinson disease 14, autosomal recessive, 612953 (3)
Parkinson disease 15, autosomal recessive, 260300 (3)
Parkinson disease 19a, juvenile-onset, 615528 (3)
Parkinson disease 19b, early-onset, 615528 (3)
?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3)
?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3)
?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)
Parkinson disease 20, early-onset, 615530 (3)
Parkinson disease 21 (2)
Parkinson disease 22, autosomal dominant, 616710 (3)
Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
Parkinson disease 4, 605543 (3)
Parkinson disease 6, early onset, 605909 (3)
Parkinson disease 7, autosomal recessive early-onset, 606324 (3)
Parkinson disease, juvenile, type 2, 600116 (3)
Parkinsonism-dystonia, infantile, 1, 613135 (3)
Paroxysmal extreme pain disorder, 167400 (3)
Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)
Paroxysmal nonkinesigenic dyskinesia 2 (2)
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
Partington syndrome, 309510 (3)
Patella aplasia or hypoplasia (2)
Patent ductus arteriosus 2, 617035 (3)
Patent ductus arteriosus 3, 617039 (3)
Peeling skin syndrome 1, 270300 (3)
Peeling skin syndrome 2, 609796 (3)
Peeling skin syndrome 4, 607936 (3)
Peeling skin syndrome 5, 617115 (3)
Peeling skin syndrome 6, 618084 (3)
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3)
Pelger-Huet anomaly, 169400 (3)
Pelizaeus-Merzbacher disease, 312080 (3)
Pendred syndrome, 274600 (3)
Periodic fever, familial, 142680 (3)
Periodic fever, menstrual cycle dependent, 614674 (3)
Periodontitis 1, juvenile, 170650 (3)
Periodontitis, aggressive, 2 (2)
Peripheral arterial occlusive disease 1 (2)
Specific language impairment QTL, 3 (2)
?Isolated growth hormone deficiency due to defect in GHRF (1)
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
Periventricular heterotopia with microcephaly, 608097 (3)
Periventricular nodular heterotopia 3 (2)
Periventricular nodular heterotopia 5 (4)
Periventricular nodular heterotopia 7, 617201 (3)
Periventricular nodular heterotopia 8, 618185 (3)
Perlman syndrome, 267000 (3)
Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3)
Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)
Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3)
Peroxisome biogenesis disorder 11B, 614885 (3)
Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)
Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)
Peroxisome biogenesis disorder 2B, 202370 (3)
Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3)
Peroxisome biogenesis disorder 3B, 266510 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)
Peroxisome biogenesis disorder 5B, 614867 (3)
Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)
Peroxisome biogenesis disorder 6B, 614871 (3)
Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)
Peroxisome biogenesis disorder 7B, 614873 (3)
Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
?Joubert syndrome 22, 615665 (3)
Peroxisome biogenesis disorder 9B, 614879 (3)
Perrault syndrome 1, 233400 (3)
Perrault syndrome 3, 614129 (3)
Perrault syndrome 4, 615300 (3)
Perrault syndrome 5, 616138 (3)
Perrault syndrome 6, 617565 (3)
Perry syndrome, 168605 (3)
Persistent Mullerian duct syndrome, type I, 261550 (3)
Persistent Mullerian duct syndrome, type II, 261550 (3)
Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)
Persistent truncus arteriosus, 217095 (3)
Persistent truncus arteriosus, 217095 (3)
Peters-plus syndrome, 261540 (3)
Peutz-Jeghers syndrome, 175200 (3)
Pfeiffer syndrome, 101600 (3)
Pfeiffer syndrome, 101600 (3)
Phelan-McDermid syndrome, 606232 (3)
Phenylketonuria, 261600 (3)
Pheochromocytoma, 171300 (3)
Pheochromocytoma, 171300 (3)
Pheochromocytoma, 171300 (3)
Pheochromocytoma, 171300 (3)
Pheochromocytoma, 171300 (3)
Phobia, specific (2)
Phosphoglycerate dehydrogenase deficiency, 601815 (3)
Phosphoglycerate kinase 1 deficiency, 300653 (3)
Phospholipid phosphatase 6, 611666 (3)
Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
Phosphoserine phosphatase deficiency, 614023 (3)
Photoparoxysmal response 1 (2)
Photoparoxysmal response 2 (2)
Photoparoxysmal response 3 (2)
Pick disease, 172700 (3)
Pick disease, 172700 (3)
Piebaldism, 172800 (3)
Piebaldism, 172800 (3)
Pierpont syndrome, 602342 (3)
Pierre Robin syndrome (2)
Pierson syndrome, 609049 (3)
Pigment dispersion syndrome (2)
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3)
Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)
Pigmented nodular adrenocortical disease, primary, 4 (4)
Pigmented paravenous chorioretinal atrophy, 172870 (3)
Pilarowski-Bjornsson syndrome, 617682 (3)
Pilomatricoma, somatic, 132600 (3)
Pitt-Hopkins like syndrome 1, 610042 (3)
Pitt-Hopkins syndrome, 610954 (3)
Pitt-Hopkins-like syndrome 2, 614325 (3)
Pituitary ACTH-secreting adenoma (3)
Pituitary adenoma 1, multiple types, 102200 (3)
Pituitary adenoma 2, GH-secreting, 300943 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
Pituitary adenoma predisposition, 102200 (3)
Pituitary hormone deficiency, combined, 1, 613038 (3)
Pituitary hormone deficiency, combined, 2, 262600 (3)
Pituitary hormone deficiency, combined, 3, 221750 (3)
Pituitary hormone deficiency, combined, 4, 262700 (3)
Pituitary hormone deficiency, combined, 5, 182230 (3)
Pituitary hormone deficiency, combined, 6, 613986 (3)
Pituitary tumor, invasive (3)
Pityriasis rubra pilaris, 173200 (3)
Plasma fibronectin deficiency, 614101 (1)
Plasma triglyceride level QTL, low, 615881 (3)
?Joubert syndrome 29, 617562 (3)
Plasminogen activator inhibitor-1 deficiency, 613329 (3)
Plasminogen deficiency, type I, 217090 (3)
Platelet PLC beta-2 deficiency (1)
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3)
Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
Platelet glycoprotein IV deficiency, 608404 (3)
Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
Pleuropulmonary blastoma, 601200 (3)
Pneumothorax, primary spontaneous, 173600 (3)
Poikiloderma with neutropenia, 604173 (3)
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)
Polyarteritis nodosa, childhood-onset, 615688 (3)
Polycystic kidney disease 1, 173900 (3)
Polycystic kidney disease 2, 613095 (3)
Polycystic kidney disease 3, 600666 (3)
Polycystic kidney disease 4, with or without hepatic disease, 263200 (3)
Polycystic kidney disease 5, 617610 (3)
Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3)
Polycystic kidney disease, infantile severe, with tuberous sclerosis (4)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3)
Polycystic liver disease 1, 174050 (3)
Polycystic liver disease 2, 617004 (3)
Polycystic liver disease 3 with or without kidney cysts, 617874 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
Polycystic ovary syndrome 1 (2)
Polycythemia vera, somatic, 263300 (3)
Polydactyly, postaxial, type A3 (2)
?Juvenile myelomonocytic leukemia, 607785 (3)
?Keratoderma, palmoplantar, punctate type 3 (2)
?Keratosis pilaris atrophicans, 604093 (3)
?Lacrimal duct defect, 149700 (3)
?Laryngeal adductor paralysis (2)
?Laurence-Moon syndrome, 245800 (3)
?Lethal congenital contractural syndrome 2, 607598 (3)
Polydactyly, postaxial, type A4 (2)
Polydactyly, postaxial, type A5 (2)
Polydactyly, postaxial, type A8, 618123 (3)
Polydactyly, postaxial, types A1 and B, 174200 (3)
Polydactyly, preaxial type II, 174500 (3)
Polydactyly, preaxial, type IV, 174700 (3)
Polyglucosan body disease, adult form, 263570 (3)
Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Polyglucosan body myopathy 2, 616199 (3)
Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)
Polymicrogyria with or without vascular-type EDS, 618343 (3)
Polymicrogyria, bilateral frontoparietal, 606854 (3)
Polymicrogyria, bilateral perisylvian (2)
Polymicrogyria, bilateral perisylvian, 615752 (3)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
Polyposis syndrome, hereditary mixed, 2, 610069 (3)
Polyposis syndrome, mixed hereditary 1 (4)
Polyposis, juvenile intestinal, 174900 (3)
Polyposis, juvenile intestinal, 174900 (3)
Pontocerebellar hypoplasia type 1A, 607596 (3)
Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 2B, 612389 (3)
Pontocerebellar hypoplasia type 2D, 613811 (3)
Testicular germ cell tumor (2)
?Lethal congenital contracture syndrome 6, 616248 (3)
?Lethal congenital contracture syndrome 8, 616287 (3)
?Leukemia, acute myeloid, 601626 (3)
?Leukodystrophy, progressive, early childhood-onset, 617762 (3)
?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)
?Lichtenstein-Knorr syndrome, 616291 (3)
?Liddle syndrome 3, 618126 (3)
?Lipodystrophy, congenital generalized, type 3, 612526 (3)
?Lipodystrophy, familial partial, type 5, 615238 (3)
?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3)
?Long QT syndrome-11, 611820 (3)
?Lysosomal acid phosphatase deficiency, 200950 (1)
?Macular degeneration, age-related, 6, 613757 (3)
?Macular dystrophy, patterned, 3, 617111 (3)
?Male infertility (1)
?Male infertility due to acrosin deficiency (2)
?Maple syrup urine disease, mild variant, 615135 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
Pontocerebellar hypoplasia, type 10, 615803 (3)
Pontocerebellar hypoplasia, type 11, 617695 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
Pontocerebellar hypoplasia, type 1B, 614678 (3)
Pontocerebellar hypoplasia, type 1C, 616081 (3)
Pontocerebellar hypoplasia, type 1D, 618065 (3)
Pontocerebellar hypoplasia, type 2E, 615851 (3)
Pontocerebellar hypoplasia, type 2F, 617026 (3)
Pontocerebellar hypoplasia, type 6, 611523 (3)
Pontocerebellar hypoplasia, type 7, 614969 (3)
Pontocerebellar hypoplasia, type 8, 614961 (3)
Pontocerebellar hypoplasia, type 9, 615809 (3)
Popliteal pterygium syndrome 1, 119500 (3)
Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
Poretti-Boltshauser syndrome, 615960 (3)
Porokeratosis 1, multiple types, 175800 (3)
Porokeratosis 2, palmar, plantar, and disseminated (2)
Porokeratosis 3, multiple types, 175900 (3)
Porokeratosis 4, disseminated superficial actinic (2)
Porokeratosis 5, disseminated superficial actinic (2)
Porokeratosis 6, multiple types (2)
Porokeratosis 7, multiple types, 614714 (3)
Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
Porokeratosis 9, multiple types, 616631 (3)
?Marden-Walker syndrome, 248700 (3)
?Marsili syndrome, 147430 (3)
?Meckel syndrome 10, 614175 (3)
?Meckel syndrome 12, 616258 (3)
?Meckel syndrome 8, 613885 (3)
?Meckel syndrome 9, 614209 (3)
?Meier-Gorlin syndrome 5, 613805 (3)
?Meier-Gorlin syndrome 8, 617564 (3)
?Melkersson-Rosenthal syndrome (2)
?Mental retardation, X-linked 100, 300923 (3)
?Mental retardation, X-linked 101, 300928 (3)
?Mental retardation, X-linked 107, 301013 (3)
?Mental retardation, X-linked 91, 300577 (3)
?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
?Mental retardation, X-linked, syndromic 12 (2)
?Mental retardation, X-linked, syndromic 32, 300886 (3)
?Mental retardation, autosomal dominant 10, 614256 (3)
Porphyria cutanea tarda, 176100 (3)
Porphyria variegata, 176200 (3)
Porphyria, acute hepatic, 612740 (3)
Porphyria, acute intermittent, 176000 (3)
Porphyria, acute intermittent, nonerythroid variant, 176000 (3)
Porphyria, congenital erythropoietic, 263700 (3)
Porphyria, hepatoerythropoietic, 176100 (3)
Portal hypertension, noncirrhotic, 617068 (3)
Postaxial polydactyly, type A2 (2)
Potocki-Lupski syndrome (4)
Potocki-Shaffer syndrome (4)
Prader-Willi syndrome, 176270 (3)
Prader-Willi syndrome, 176270 (3)
Preauricular tag, isolated, autosomal dominant, 1 (2)
Precocious puberty, central, 2, 615346 (3)
Precocious puberty, male, 176410 (3)
Preeclampsia/eclampsia 1 (2)
Preeclampsia/eclampsia 2 (2)
Preeclampsia/eclampsia 3 (2)
Preeclampsia/eclampsia 4, 609404 (3)
Preeclampsia/eclampsia 5, 614595 (3)
Pregnancy loss, recurrent, 4, 270960 (3)
Preimplantation embryonic lethality 2, 617234 (3)
Preimplantation embryonic lethality, 616814 (3)
Premature aging syndrome, Penttinen type, 601812 (3)
Premature ovarian failure 1, 311360 (3)
Premature ovarian failure 11, 616946 (3)
Premature ovarian failure 3, 608996 (3)
?Mental retardation, autosomal dominant 11, 614257 (3)
?Mental retardation, autosomal recessive 43, 615817 (3)
?Mental retardation, autosomal recessive 45, 615979 (3)
?Mental retardation, autosomal recessive 50, 616460 (3)
?Mental retardation, autosomal recessive 63, 618095 (3)
?Mental retardation, autosomal recessive, 37, 615493 (3)
?Mental retardation, autosomal recessive, 52, 616887 (3)
?Microcephaly 11, primary, autosomal recessive, 615414 (3)
?Microcephaly 12, primary, autosomal recessive, 616080 (3)
?Microcephaly 13, primary, autosomal recessive, 616051 (3)
?Microcephaly 14, primary, autosomal recessive, 616402 (3)
?Microcephaly 16, primary, autosomal recessive, 616681 (3)
?Microcephaly 18, primary, autosomal dominant, 617520 (3)
?Microcephaly 19, primary, autosomal recessive, 617800 (3)
?Microcephaly 21, primary, autosomal recessive, 617983 (3)
Premature ovarian failure 4, 300510 (3)
Premature ovarian failure 5, 611548 (3)
Premature ovarian failure 6, 612310 (3)
Premature ovarian failure 7, 612964 (3)
Premature ovarian failure 8, 615723 (3)
Premature ovarian failure 9, 615724 (3)
Prieto syndrome (2)
Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
Primary lateral sclerosis, adult, 1 (2)
Primary lateral sclerosis, juvenile, 606353 (3)
Primrose syndrome, 259050 (3)
Prion disease with protracted course, 606688 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3)
Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)
Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
?Microcephaly 23, primary, autosomal recessive, 617985 (3)
?Microcephaly 24, primary, autosomal recessive, 618179 (3)
?Microcephaly 25, primary, autosomal recessive, 618351 (3)
?Microhydranencephaly, 605013 (3)
?Microphthalmia, syndromic 1, 309800 (3)
?Microphthalmia, syndromic 11, 614402 (3)
?Microphthalmia, syndromic 13, 300915 (3)
?Microphthalmia, syndromic 4 (2)
?Microtia, hearing impairment, and cleft palate (AR), 612290 (3)
?Mirror movements 3, 616059 (3)
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3)
?Mitochondrial complex I deficiency, nuclear type 13, 618235 (3)
?Mitochondrial complex I deficiency, nuclear type 23, 618244 (3)
?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
Progressive familial heart block, type IB, 604559 (3)
Progressive familial heart block, type II (2)
Proguanil poor metabolizer, 609535 (3)
Prolidase deficiency, 170100 (3)
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
Properdin deficiency, X-linked, 312060 (3)
Propionicacidemia, 606054 (3)
Propionicacidemia, 606054 (3)
Prostate adenocarcinoma (2)
Prostate cancer 1, 601518 (3)
Prostate cancer, somatic, 176807 (3)
Prostate cancer, somatic, 176807 (3)
Prostate cancer, somatic, 176807 (3)
Prostate cancer, somatic, 176807 (3)
Prostate cancer, somatic, 176807 (3)
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3)
Proteasome-associated autoinflammatory syndrome 2, 618048 (3)
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
Proteus syndrome, somatic, 176920 (3)
Protoporphyria, erythropoietic, 1, 177000 (3)
Protoporphyria, erythropoietic, X-linked, 300752 (3)
Proud syndrome, 300004 (3)
Proximal myopathy and ophthalmoplegia, 605637 (3)
Pseudo-TORCH syndrome 1, 251290 (3)
Pseudo-TORCH syndrome 2, 617397 (3)
?Mitochondrial complex I deficiency, nuclear type 28, 618249 (3)
?Mitochondrial complex I deficiency, nuclear type 30, 301021 (3)
?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3)
?Mitochondrial complex IV deficiency, 220110 (3)
?Mitochondrial complex IV deficiency, 220110 (3)
?Mitochondrial complex IV deficiency, 220110 (3)
?Mitochondrial complex IV deficiency, 220110 (3)
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
?Mitochondrial myopathy with lactic acidosis, 251950 (3)
?Moebius syndrome (2)
?Morning glory disc anomaly, 120430 (3)
?Mucocutaneous ulceration, chronic, 618287 (3)
?Mucopolysaccharidosis type IX, 601492 (3)
?Mungan syndrome, 611376 (3)
Pseudoachondroplasia, 177170 (3)
Pseudohermaphroditism, male, with gynecomastia, 264300 (3)
Pseudohyperkalemia, familial, 2, due to red cell leak (2)
Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
Pseudohypoaldosteronism, type IIA (2)
Pseudohypoaldosteronism, type IIB, 614491 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
Pseudohypoaldosteronism, type IID, 614495 (3)
Pseudohypoaldosteronism, type IIE, 614496 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudohypoparathyroidism, type IB, 603233 (3)
Pseudohypoparathyroidism, type IB, 603233 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
Pseudovaginal perineoscrotal hypospadias, 264600 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)
Psoriasis 14, pustular, 614204 (3)
?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3)
?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3)
?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)
?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3)
?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3)
?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
?Myasthenic syndrome, congenital, 18, 616330 (3)
?Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)
?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3)
?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3)
Psoriasis 2, 602723 (3)
Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3)
Ptosis, hereditary congenital 2 (2)
Ptosis, hereditary congenital, 1 (2)
Pulmonary alveolar microlithiasis, 265100 (3)
Pulmonary disease, chronic obstructive, severe early-onset (2)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3)
Pulmonary fibrosis, idiopathic, 178500 (3)
Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3)
Pulmonary hypertension, primary, 2, 615342 (3)
Pulmonary hypertension, primary, 3, 615343 (3)
Pulmonary hypertension, primary, 4, 615344 (3)
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3)
Pulmonary venoocclusive disease 1, 265450 (3)
Pulmonary venoocclusive disease 2, 234810 (3)
Purpura, posttransfusion (3)
Pycnodysostosis, 265800 (3)
Pyle disease, 265900 (3)
Pyloric stenosis, infantile hypertrophic 1 (2)
Pyloric stenosis, infantile hypertrophic, 2 (2)
Pyloric stenosis, infantile hypertrophic, 3 (2)
17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
2-methylbutyrylglycinuria, 610006 (3)
3-M syndrome 1, 273750 (3)
3-M syndrome 2, 612921 (3)
3-M syndrome 3, 614205 (3)
3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)
3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
3-methylglutaconic aciduria, type I, 250950 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
3-methylglutaconic aciduria, type IX, 617698 (3)
3-methylglutaconic aciduria, type V, 610198 (3)
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
3-methylglutaconic aciduria, type VIII, 617248 (3)
3MC syndrome 1, 257920 (3)
3MC syndrome 2, 265050 (3)
3MC syndrome 3, 248340 (3)
3p- syndrome (4)
46, XX sex reversal 4, 617480 (3)
46XX sex reversal 1, 400045 (3)
46XX sex reversal 2 (4)
46XX sex reversal 3 (4)
46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)
46XY sex reversal 1, 400044 (3)
46XY sex reversal 10 (4)
46XY sex reversal 2, dosage-sensitive, 300018 (3)
46XY sex reversal 3, 612965 (3)
46XY sex reversal 4 (4)
46XY sex reversal 6, 613762 (3)
46XY sex reversal 7, 233420 (3)
46XY sex reversal 8, 614279 (3)
46XY sex reversal 9, 616067 (3)
5-fluorouracil toxicity, 274270 (3)
5-oxoprolinase deficiency, 260005 (3)
?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
?46XY sex reversal 5, 613080 (3)
?ACAT2 deficiency, 614055 (1)
?Abruzzo-Erickson syndrome, 302905 (3)
?Acne inversa, familial, 3, 613737 (3)
?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)
?Advanced sleep phase syndrome, familial, 3, 616882 (3)
?Agammaglobulinemia 4, 613502 (3)
?Agammaglobulinemia 5, 613506 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
?Al-Gazali-Bakalinova syndrome, 607131 (3)
?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)
?Alopecia-mental retardation syndrome 1, 203650 (3)
?Amelogenesis imperfecta, type IE, X-linked 2 (2)
?Amelogenesis imperfecta, type IIIB, 617607 (3)
?Amyloidosis, familial visceral, 105200 (3)
?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)
?Anal canal carcinoma (2)
?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3)
?Anencephaly, 206500 (3)
Pyloric stenosis, infantile hypertrophic, 4 (2)
Pyloric stenosis, infantile hypertrophic, 5 (2)
Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)
Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Pyropoikilocytosis, 266140 (3)
Pyruvate carboxylase deficiency, 266150 (3)
Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Pyruvate dehydrogenase E2 deficiency, 245348 (3)
Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
Pyruvate kinase deficiency, 266200 (3)
Quebec platelet disorder, 601709 (3)
Question mark ears, isolated, 612798 (3)
RAPADILINO syndrome, 266280 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
RIDDLE syndrome, 611943 (3)
?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
?Aniridia 2, 617141 (3)
?Aniridia 3, 617142 (3)
?Antiphospholipid syndrome, familial (2)
?Aplasia cutis congenita, nonsyndromic, 107600 (3)
?Arthrogryposis multiplex congenita, neurogenic type, 208100 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
?Arthrogryposis, mental retardation, and seizures, 615553 (3)
?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3)
?Ataxia-telangiectasia-like disorder 2, 615919 (3)
?Atrial fibrillation 15, 615770 (3)
?Atrial fibrillation, familial, 18, 617280 (3)
?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
?Bardet-Biedl syndrome 11, 615988 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
?Bardet-Biedl syndrome 15, 615992 (3)
?Bardet-Biedl syndrome 18, 615995 (3)
?Bardet-Biedl syndrome 19, 615996 (3)
?Bardet-Biedl syndrome 20, 617119 (3)
?Bile acid synthesis defect, congenital, 5, 616278 (3)
?Birk-Landau-Perez syndrome, 617595 (3)
?Bleeding disorder, platelet-type, 18, 615888 (3)
?Bleeding disorder, platelet-type, 19, 616176 (3)
?Brachydactyly-syndactyly syndrome, 610713 (3)
?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
?Brugada syndrome 6, 613119 (3)
?CHARGE syndrome, 214800 (3)
?Camptosynpolydactyly, complex, 607539 (3)
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
?Candidiasis, familial, 6, autosomal dominant, 613956 (3)
?Candidiasis, familial, 8, 615527 (3)
Rabson-Mendenhall syndrome, 262190 (3)
Radial ray deficiency (2)
Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)
Rahman syndrome, 617537 (3)
Raine syndrome, 259775 (3)
Rajab interstitial lung disease with brain calcifications, 613658 (3)
Rajab syndrome (2)
Rapp-Hodgkin syndrome, 129400 (3)
Raynaud-Claes syndrome, 300114 (3)
Recombination rate QTL 1, 612042 (3)
Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3)
Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3)
Refsum disease, 266500 (3)
Renal carcinoma, chromophobe, somatic, 144700 (3)
Renal cell carcinoma, 144700 (1)
?Cardiac arrhythmia with increased serum creatine kinase, 616812 (3)
?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3)
?Cardiomyopathy, dilated, 1J, 605362 (3)
?Cardiomyopathy, dilated, 1M, 607482 (3)
?Cardiomyopathy, dilated, 2A, 611880 (3)
?Cardiomyopathy, dilated, 2B, 614672 (3)
?Cataract 41, 116400 (3)
?Cataract 42, 115900 (3)
?Cataract 43, 616279 (3)
?Cataract 45, 616851 (3)
?Cataract, congenital (2)
?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3)
?Caudal duplication anomaly, 607864 (3)
?Centronuclear myopathy 4, 614807 (3)
?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
?Cerebral palsy, spastic quadriplegic, 1, 603513 (3)
?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3)
?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
?Charcot-Marie-Tooth disease, type 2B2, 605589 (3)
?Chilblain lupus 2, 614415 (3)
?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3)
?Chorea, childhood-onset, with psychomotor retardation, 616939 (3)
?Choroidal dystrophy, central areolar 1, 215500 (3)
?Ciliary dyskinesia, primary, 37, 617577 (3)
?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
Renal cell carcinoma, 144700 (3)
Renal cell carcinoma, 144700 (3)
Renal cell carcinoma, clear cell, somatic, 144700 (3)
Renal cell carcinoma, papillary, 1, 300854 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
Renal cell carcinoma, papillary, 605074 (3)
Renal cell carcinoma, somatic, 144700 (3)
Renal cysts and diabetes syndrome, 137920 (3)
Renal glucosuria, 233100 (3)
Renal hypodysplasia/aplasia 1, 191830 (3)
Renal hypodysplasia/aplasia 3, 617805 (3)
Renal tubular acidosis with deafness, 267300 (3)
Renal tubular acidosis, distal, AD, 179800 (3)
Renal tubular acidosis, distal, AR, 611590 (3)
Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Renal tubular dysgenesis, 267430 (3)
?Coloboma of optic nerve, 120430 (3)
?Coloboma, ocular, 120200 (3)
?Coloboma, ocular, autosomal recessive, 216820 (3)
?Combined oxidative phosphorylation deficiency 16, 615395 (3)
?Combined oxidative phosphorylation deficiency 19, 615595 (3)
?Combined oxidative phosphorylation deficiency 21, 615918 (3)
?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Combined oxidative phosphorylation deficiency 25, 616430 (3)
?Combined oxidative phosphorylation deficiency 29, 616811 (3)
?Combined oxidative phosphorylation deficiency 34, 617872 (3)
?Complement factor B deficiency, 615561 (3)
?Cone-rod dystrophy (3)
?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
?Congenital disorder of glycosylation, type 1aa, 617082 (3)
?Congenital disorder of glycosylation, type 1bb, 613861 (3)
?Congenital disorder of glycosylation, type IIq, 617395 (3)
?Congenital disorder of glycosylation, type Ii, 607906 (3)
?Congenital disorder of glycosylation, type Ir, 614507 (3)
?Congenital disorder of glycosylation, type Is, 300884 (3)
?Congenital disorder of glycosylation, type Iw, 615596 (3)
?Congenital disorder of glycosylation, type Ix, 615597 (3)
?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3)
?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
?Cowden syndrome 7, 616858 (3)
?Cranioectodermal dysplasia 3, 614099 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
?Myoclonus, familial, 1, 614937 (3)
?Myoclonus, familial, 2, 618364 (3)
?Myofibromatosis, infantile 2, 615293 (3)
?Myopathy, congenital, Compton-North, 612540 (3)
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
Renal tubular dysgenesis, 267430 (3)
Renal tubular dysgenesis, 267430 (3)
Renal tubular dysgenesis, 267430 (3)
Renal-hepatic-pancreatic dysplasia 1, 208540 (3)
Renal-hepatic-pancreatic dysplasia 2, 615415 (3)
Renpenning syndrome, 309500 (3)
Restrictive dermopathy, lethal, 275210 (3)
Restrictive dermopathy, lethal, 275210 (3)
Reticular dysgenesis, 267500 (3)
Reticulate acropigmentation of Kitamura, 615537 (3)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
Retinal cone dystrophy 3, 610024 (3)
Retinal cone dystrophy 3B, 610356 (3)
Retinal cone dystrophy 4, 610478 (3)
Retinal degeneration, autosomal recessive, clumped pigment type (3)
Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
?Myopathy, scapulohumeroperoneal, 616852 (3)
?Myosclerosis, congenital, 255600 (3)
?N-acetylaspartate deficiency, 614063 (3)
?Narcolepsy 1, 161400 (3)
?Narcolepsy 7, 614250 (3)
?Nephrolithiasis, calcium oxalate, 167030 (3)
?Nephronophthisis 9, 613824 (3)
?Nephrotic syndrome, type 13, 616893 (3)
?Nephrotic syndrome, type 19, 618178 (3)
?Neurodegeneration with brain iron accumulation 7, 617916 (3)
?Neurodegeneration with brain iron accumulation 8, 617917 (3)
?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3)
?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3)
?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
?Neuronopathy, distal hereditary motor, type VB, 614751 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)
?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
?Neutrophil chemotactic response, abnormal (2)
?Olmsted syndrome, X-linked, 300918 (3)
?Optic atrophy 11, 617302 (3)
?Optic atrophy 9, 616289 (3)
?Orofacial cleft 10, 613705 (3)
?Orofacial cleft 15, 616788 (3)
?Orofaciodigital syndrome XIV, 615948 (3)
?Orofaciodigital syndrome XV, 617127 (3)
?Orofaciodigital syndrome XVII, 617926 (3)
?Orofaciodigital syndrome XVIII, 617927 (3)
?Orthostatic intolerance, 604715 (3)
?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, 618167 (3)
?Osteopetrosis, autosomal recessive 6, 611497 (3)
?Osteoporosis, involutional, 166710 (1)
?Otofaciocervical syndrome 2, 615560 (3)
Retinal dystrophy with macular staphyloma, 617547 (3)
Retinal dystrophy with or without extraocular anomalies, 617175 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinal dystrophy, early-onset severe, 613341 (3)
Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3)
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3)
Retinitis pigmentosa 1, 180100 (3)
Retinitis pigmentosa 10, 180105 (3)
Retinitis pigmentosa 11, 600138 (3)
Retinitis pigmentosa 13, 600059 (3)
Retinitis pigmentosa 14, 600132 (3)
Retinitis pigmentosa 17, 600852 (3)
Retinitis pigmentosa 18, 601414 (3)
Retinitis pigmentosa 19, 601718 (3)
Retinitis pigmentosa 2, 312600 (3)
Retinitis pigmentosa 20, 613794 (3)
Retinitis pigmentosa 22 (2)
?Otofaciocervical syndrome, 166780 (3)
?Ovarian dysgenesis 6, 618078 (3)
?Ovarian dysgenesis 8, 618187 (3)
?PEHO syndrome-like, 617507 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
?Pancreatic endocrine tumors (1)
?Pancreatic lipase deficiency, 614338 (3)
?Parkinsonism with spasticity, X-linked, 300911 (3)
?Parkinsonism-dystonia, infantile, 2, 618049 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
?Peeling skin syndrome 3, 616265 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
?Periventricular nodular heterotopia 6, 615544 (3)
?Peroxisome biogenesis disorder 10B, 617370 (3)
?Peroxisome biogenesis disorder 14B, 614920 (3)
?Perrault syndrome 2, 614926 (3)
?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
?Polydactyly, postaxial, type A6, 615226 (3)
?Polydactyly, postaxial, type A7, 617642 (3)
?Polydactyly, postaxial, type A9, 618219 (3)
?Polyendocrine-polyneuropathy syndrome, 616113 (3)
?Polymicrogyria, bilateral temporooccipital, 612691 (3)
?Pontocerebellar hypoplasia type 2C, 612390 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
?Pontocerebellar hypoplasia, type 3, 608027 (3)
?Preauricular fistulae, congenital (2)
?Precocious puberty, central, 1, 176400 (3)
?Premature ovarian failure 10, 612885 (3)
?Premature ovarian failure 12, 616947 (3)
?Premature ovarian failure 13, 617442 (3)
?Premature ovarian failure 14, 618014 (3)
?Premature ovarian failure 15, 618096 (3)
?Premature ovarian failure 2A, 300511 (3)
Retinitis pigmentosa 24 (2)
Retinitis pigmentosa 25, 602772 (3)
Retinitis pigmentosa 26, 608380 (3)
Retinitis pigmentosa 27, 613750 (3)
Retinitis pigmentosa 28, 606068 (3)
Retinitis pigmentosa 29 (2)
Retinitis pigmentosa 3, 300029 (3)
Retinitis pigmentosa 30, 607921 (3)
Retinitis pigmentosa 31, 609923 (3)
Retinitis pigmentosa 32 (2)
Retinitis pigmentosa 33, 610359 (3)
Retinitis pigmentosa 34 (2)
Retinitis pigmentosa 35, 610282 (3)
Retinitis pigmentosa 36, 610599 (3)
Retinitis pigmentosa 37, 611131 (3)
Retinitis pigmentosa 38, 613862 (3)
Retinitis pigmentosa 39, 613809 (3)
Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3)
Retinitis pigmentosa 41, 612095 (3)
?Premature ovarian failure 2B, 300604 (3)
?Progesterone resistance, 264080 (2)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3)
?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3)
?Protoporphyria, erythropoietic, 2, 618015 (3)
?Prune belly syndrome, 100100 (3)
?Ptosis, congenital, 178300 (2)
?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3)
?RHYNS syndrome, 602152 (3)
?Ragweed sensitivity (2)
?Renal hypodysplasia/aplasia 2, 615721 (3)
?Retinal arteries, tortuosity of, 180000 (3)
?Retinal cone dystrophy-1 (2)
?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3)
?Retinal dystrophy and obesity, 616188 (3)
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3)
?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3)
?Retinitis pigmentosa 23, 300424 (3)
?Retinitis pigmentosa 51, 613464 (3)
?Retinitis pigmentosa 55, 613575 (3)
?Retinitis pigmentosa 58, 613617 (3)
?Retinitis pigmentosa 66, 615233 (3)
?Retinitis pigmentosa 67, 615565 (3)
?Retinitis pigmentosa 81, 617871 (3)
?Retinitis pigmentosa 83, 618173 (3)
?Retinitis pigmentosa 85, 618345 (3)
?Retinitis pigmentosa 9, 180104 (3)
?Retinitis pigmentosa, X-linked recessive, 6 (2)
?Reynolds syndrome, 613471 (3)
?Ribose 5-phosphate isomerase deficiency, 608611 (3)
?Roifman-Chitayat syndrome (2)
?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3)
Retinitis pigmentosa 42, 612943 (3)
Retinitis pigmentosa 43, 613810 (3)
Retinitis pigmentosa 44, 613769 (3)
Retinitis pigmentosa 45, 613767 (3)
Retinitis pigmentosa 46, 612572 (3)
Retinitis pigmentosa 47, 613758 (3)
Retinitis pigmentosa 48, 613827 (3)
Retinitis pigmentosa 49, 613756 (3)
Retinitis pigmentosa 54, 613428 (3)
Retinitis pigmentosa 56, 613581 (3)
Retinitis pigmentosa 57, 613582 (3)
Retinitis pigmentosa 59, 613861 (3)
Retinitis pigmentosa 60, 613983 (3)
Retinitis pigmentosa 61, 614180 (3)
Retinitis pigmentosa 62, 614181 (3)
Retinitis pigmentosa 63 (2)
Retinitis pigmentosa 64, 614500 (3)
Retinitis pigmentosa 65, 613660 (3)
?Seckel syndrome 4, 613676 (3)
?Seckel syndrome 6, 614728 (3)
?Seckel syndrome 7, 614851 (3)
?Seckel syndrome 8, 615807 (3)
?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3)
?Sertoli-cell-only syndrome (1)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
?Slowed nerve conduction velocity, AD, 608236 (3)
?Sneddon syndrome, 182410 (3)
?Sotos syndrome 3, 617169 (3)
?Spastic ataxia 4, autosomal recessive, 613672 (3)
?Spastic paraplegia 41, autosomal dominant (2)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
?Spastic paraplegia 57, autosomal recessive, 615658 (3)
?Spastic paraplegia 61, autosomal recessive, 615685 (3)
?Spastic paraplegia 63, 615686 (3)
?Spastic paraplegia 72, autosomal dominant, 615625 (3)
?Spastic paraplegia 72, autosomal recessive, 615625 (3)
?Spastic paraplegia 73, autosomal dominant, 616282 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
?Spermatogenic failure 13, 615841 (3)
?Spermatogenic failure 14, 615842 (3)
?Spermatogenic failure 15, 616950 (3)
?Spermatogenic failure 17, 617214 (3)
?Spermatogenic failure 20, 617593 (3)
?Spermatogenic failure 21, 617644 (3)
?Spermatogenic failure 22, 617706 (3)
?Spermatogenic failure 23, 617707 (3)
?Spermatogenic failure 26, 617961 (3)
?Spermatogenic failure 27, 617965 (3)
?Spermatogenic failure 29, 618091 (3)
?Spermatogenic failure 30, 618110 (3)
?Spermatogenic failure 6, 102530 (3)
?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3)
Retinitis pigmentosa 68, 615725 (3)
Retinitis pigmentosa 69, 615780 (3)
Retinitis pigmentosa 7 and digenic form, 608133 (3)
Retinitis pigmentosa 7, digenic form, 608133 (3)
Retinitis pigmentosa 70, 615922 (3)
Retinitis pigmentosa 71, 616394 (3)
Retinitis pigmentosa 72, 616469 (3)
Retinitis pigmentosa 73, 616544 (3)
Retinitis pigmentosa 74, 616562 (3)
Retinitis pigmentosa 75, 617023 (3)
Retinitis pigmentosa 76, 617123 (3)
Retinitis pigmentosa 77, 617304 (3)
Retinitis pigmentosa 78, 617433 (3)
Retinitis pigmentosa 79, 617460 (3)
Retinitis pigmentosa 80, 617781 (3)
Retinitis pigmentosa 84, 618220 (3)
Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)
?Spinocerebellar ataxia 26, 609306 (3)
?Spinocerebellar ataxia 30 (2)
?Spinocerebellar ataxia 40, 616053 (3)
?Spinocerebellar ataxia 41, 616410 (3)
?Spinocerebellar ataxia 43, 617018 (3)
?Spinocerebellar ataxia 46, 617770 (3)
?Spinocerebellar ataxia 48, 618093 (3)
?Spinocerebellar ataxia, X-linked 1, 302500 (3)
?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3)
?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3)
?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3)
?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)
?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3)
?Spondylocostal dysostosis 6, 616566 (3)
?Spondyloepimetaphyseal dysplasia, 608728 (3)
?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3)
?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
?Stickler syndrome, type V, 614284 (3)
?Sudden cardiac failure, alcohol-induced, 617223 (3)
?Testicular anomalies with or without congenital heart disease, 615542 (3)
?Tetra-amelia syndrome 1, 273395 (3)
?Thrombocytopenia 6, 616937 (3)
?Thrombocytopenia, Paris-Trousseau type (4)
?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3)
?Thrombophilia due to decreased release of tissue plasminogen (1)
?Thromboxane synthase deficiency, 614158 (1)
?Tibial hemimelia (2)
?Townes-Brocks syndrome 2, 617466 (3)
?Trichothiodystrophy 5, nonphotosensitive, 300953 (3)
?Trichotillomania, 613229 (3)
?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
?Uncombable hair syndrome 2, 617251 (3)
?Uncombable hair syndrome 3, 617252 (3)
?Urocanase deficiency, 276880 (3)
?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3)
?Visual impairment and progressive phthisis bulbi, 618283 (3)
?Waisman syndrome, 311510 (3)
?Webb-Dattani syndrome, 615926 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
?Weyers acrofacial dysostosis, 193530 (3)
?Winchester syndrome, 277950 (3)
?Wiskott-Aldrich syndrome 2, 614493 (3)
?XFE progeroid syndrome, 610965 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
?{Deafness, autosomal recessive 26, modifier of}, 605429 (3)
Retinitis pigmentosa with or without situs inversus, 615434 (3)
Retinitis pigmentosa with or without skeletal anomalies, 250410 (3)
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
Retinitis pigmentosa, Y-linked (2)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
Retinitis pigmentosa, juvenile, 613341 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
Acrofacial dysostosis, Cincinnati type, 616462 (3)
Acrokeratosis verruciformis, 101900 (3)
Acromegaloid features, overgrowth, cleft palate, and hernia (2)
Acromelic frontonasal dysostosis, 603671 (3)
Acromesomelic dysplasia, Demirhan type, 609441 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Acromicric dysplasia, 102370 (3)
Acropectoral syndrome (2)
Acropectorovertebral dysplasia (2)
Acute insulin response (2)
Acute myeloid leukemia, somatic, 601626 (3)
Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
Adams-Oliver syndrome 1, 100300 (3)
Adams-Oliver syndrome 2, 614219 (3)
Adams-Oliver syndrome 3, 614814 (3)
Adams-Oliver syndrome 4, 615297 (3)
Retinitis pigmentosa-12, 600105 (3)
Retinitis pigmentosa-40, 613801 (3)
Retinitis pigmentosa-50, 613194 (3)
Retinitis punctata albescens, 136880 (3)
Retinitis punctata albescens, 136880 (3)
Retinitis punctata albescens, 136880 (3)
Retinoblastoma, 180200 (3)
Retinoblastoma, trilateral, 180200 (3)
Retinopathy of prematurity, 133780 (3)
Retinoschisis, 312700 (3)
Rett syndrome, 312750 (3)
Rett syndrome, atypical, 312750 (3)
Rett syndrome, congenital variant, 613454 (3)
Rett syndrome, preserved speech variant, 312750 (3)
Revesz syndrome, 268130 (3)
Rh-null disease, amorph type, 617970 (3)
Rhabdoid tumors, somatic, 609322 (3)
Rhabdomyosarcoma 2, alveolar, 268220 (3)
Rhabdomyosarcoma 2, alveolar, 268220 (3)
Rhabdomyosarcoma, alveolar, 268220 (3)
Rhabdomyosarcoma, embryonal, 2, 180295 (3)
Rhabdomyosarcoma, somatic, 268210 (3)
Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)
Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)
Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
Riboflavin deficiency, 615026 (3)
Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
Rieger syndrome, type 2 (2)
Right atrial isomerism (Ivemark), 208530 (3)
Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Ring chromosome 14 syndrome (4)
Ring dermoid of cornea, 180550 (3)
Rippling muscle disease 2, 606072 (3)
Rippling muscle disease-1 (2)
Ritscher-Schinzel syndrome 1, 220210 (3)
Ritscher-Schinzel syndrome 2, 300963 (3)
Roberts syndrome, 268300 (3)
Robin sequence with cleft mandible and limb anomalies, 268305 (3)
Robinow syndrome, autosomal dominant 1, 180700 (3)
Robinow syndrome, autosomal dominant 2, 616331 (3)
Robinow syndrome, autosomal dominant 3, 616894 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
Robinow-Sorauf syndrome, 180750 (3)
Roifman syndrome, 616651 (3)
Rothmund-Thomson syndrome, 268400 (3)
Roussy-Levy syndrome, 180800 (3)
Roussy-Levy syndrome, 180800 (3)
Rubinstein-Taybi syndrome 1, 180849 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
Ruijs-Aalfs syndrome, 616200 (3)
SADDAN, 616482 (3)
SARS infection, protection against (2)
SBBYSS syndrome, 603736 (3)
SC phocomelia syndrome, 269000 (3)
SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
SED congenita, 183900 (3)
SED, Maroteaux type, 184095 (3)
SESAME syndrome, 612780 (3)
SHORT syndrome, 269880 (3)
SMED Strudwick type, 184250 (3)
STAR syndrome, 300707 (3)
STING-associated vasculopathy, infantile-onset, 615934 (3)
Saccharopinuria, 268700 (1)
Sacral agenesis with vertebral anomalies, 615709 (3)
Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3)
Saethre-Chotzen syndrome, 101400 (3)
Salih myopathy, 611705 (3)
Salla disease, 604369 (3)
Salt and pepper developmental regression syndrome, 609056 (3)
Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Sarcoma, synovial (1)
Saul-Wilson syndrome, 618150 (3)
Scalp-ear-nipple syndrome, 181270 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
Scapuloperoneal myopathy, X-linked dominant, 300695 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
Schaaf-Yang syndrome, 615547 (3)
Schimke immunoosseous dysplasia, 242900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
Schizencephaly, 269160 (3)
Schizencephaly, 269160 (3)
Schizencephaly, 269160 (3)
Schizencephaly, 269160 (3)
Schizophrenia 16 (4)
Schizophrenia, 181500 (2)
Schneckenbecken dysplasia, 269250 (3)
Schopf-Schulz-Passarge syndrome, 224750 (3)
Schuurs-Hoeijmakers syndrome, 615009 (3)
Schwannomatosis, somatic, 162091 (3)
Schwartz-Jampel syndrome, type 1, 255800 (3)
Sclerosing cholangitis, neonatal, 617394 (3)
Sclerosteosis 1, 269500 (3)
Sclerosteosis 2, 614305 (3)
Scoliosis, idiopathic 1 (2)
Scoliosis, idiopathic 2 (2)
Scott syndrome, 262890 (3)
Scurvy (3)
Sea-blue histiocyte disease, 269600 (3)
Sebaceous tumors, somatic (3)
Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)
Seckel syndrome 1, 210600 (3)
Seckel syndrome 10, 617253 (3)
Seckel syndrome 2, 606744 (3)
Seckel syndrome 5, 613823 (3)
Seckel syndrome 9, 616777 (3)
Segawa syndrome, recessive, 605407 (3)
Seizures, benign familial infantile, 1 (2)
Seizures, benign familial infantile, 2, 605751 (3)
Seizures, benign familial infantile, 3, 607745 (3)
Seizures, benign familial infantile, 4 (2)
Seizures, benign familial infantile, 5, 617080 (3)
Seizures, benign neonatal, 1, 121200 (3)
Seizures, benign neonatal, 2, 121201 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
Sengers syndrome, 212350 (3)
Senior-Loken syndrome 3 (2)
Senior-Loken syndrome 4, 606996 (3)
Senior-Loken syndrome 5, 609254 (3)
Senior-Loken syndrome 6, 610189 (3)
Senior-Loken syndrome 7, 613615 (3)
Senior-Loken syndrome 8, 616307 (3)
Senior-Loken syndrome 9, 616629 (3)
Senior-Loken syndrome-1, 266900 (3)
Sensorineural deafness with mild renal dysfunction, 602522 (3)
Septooptic dysplasia, 182230 (3)
Sessile serrated polyposis cancer syndrome, 617108 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
Severe combined immunodeficiency, Athabascan type, 602450 (3)
Severe combined immunodeficiency, B cell-negative, 601457 (3)
Severe combined immunodeficiency, B cell-negative, 601457 (3)
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Severe combined immunodeficiency, X-linked, 300400 (3)
Shaheen syndrome, 615328 (3)
Shashi-Pena syndrome, 617190 (3)
Short QT syndrome 1, 609620 (3)
Short QT syndrome 2, 609621 (3)
Short QT syndrome 3, 609622 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Short stature with microcephaly and distinctive facies, 615789 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 (3)
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3)
Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)
Short stature, developmental delay, and congenital heart defects, 617044 (3)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3)
Short stature, idiopathic familial, 300582 (3)
Short stature, idiopathic familial, 300582 (3)
Short stature, microcephaly, and endocrine dysfunction, 616541 (3)
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
Short-rib thoracic dysplasia 1 with or without polydactyly (2)
Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3)
Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3)
Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Shprintzen-Goldberg syndrome, 182212 (3)
Shwachman-Diamond syndrome 2, 617941 (3)
Shwachman-Diamond syndrome, 260400 (3)
Sialic acid storage disorder, infantile, 269920 (3)
Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
Sialuria, 269921 (3)
Sick sinus syndrome 1, 608567 (3)
Sick sinus syndrome 2, 163800 (3)
Sickle cell anemia, 603903 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
Sifrim-Hitz-Weiss syndrome, 617159 (3)
Silver spastic paraplegia syndrome, 270685 (3)
Silver-Russell syndrome (4)
Silver-Russell syndrome, 180860 (3)
Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
Single median maxillary central incisor, 147250 (3)
Singleton-Merten syndrome 1, 182250 (3)
Singleton-Merten syndrome 2, 616298 (3)
Sinoatrial node dysfunction and deafness, 614896 (3)
Sitosterolemia, 210250 (3)
Sitosterolemia, 210250 (3)
Sjogren-Larsson syndrome, 270200 (3)
Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
Skraban-Deardorff syndrome, 617616 (3)
Small cell cancer of the lung, somatic, 182280 (3)
Small fiber neuropathy, 133020 (3)
Small-cell cancer of lung (2)
Smith-Kingsmore syndrome, 616638 (3)
Smith-Lemli-Opitz syndrome, 270400 (3)
Smith-Magenis syndrome, 182290 (3)
Smith-McCort dysplasia 2, 615222 (3)
Smith-McCort dysplasia, 607326 (3)
Snijders Blok-Campeau syndrome, 618205 (3)
Snowflake vitreoretinal degeneration, 193230 (3)
Somatostatin analog, resistance to (3)
Sorsby fundus dystrophy, 136900 (3)
Sotos syndrome 1, 117550 (3)
Sotos syndrome 2, 614753 (3)
Spastic ataxia 1, autosomal dominant, 108600 (3)
Spastic ataxia 2, autosomal recessive, 611302 (3)
Spastic ataxia 3, autosomal recessive, 611390 (3)
Spastic ataxia 5, autosomal recessive, 614487 (3)
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Spastic paralysis, infantile onset ascending, 607225 (3)
Spastic paraplegia 10, autosomal dominant, 604187 (3)
Spastic paraplegia 11, autosomal recessive, 604360 (3)
Spastic paraplegia 12, autosomal dominant, 604805 (3)
Spastic paraplegia 13, autosomal dominant, 605280 (3)
Spastic paraplegia 14, autosomal recessive (2)
Spastic paraplegia 15, autosomal recessive, 270700 (3)
Spastic paraplegia 16, X-linked, complicated (2)
Spastic paraplegia 18, autosomal recessive, 611225 (3)
Spastic paraplegia 19, autosomal dominant (2)
Spastic paraplegia 2, X-linked, 312920 (3)
Spastic paraplegia 23, 270750 (3)
Spastic paraplegia 24, autosomal recessive (2)
Spastic paraplegia 25, autosomal recessive (2)
Spastic paraplegia 26, autosomal recessive, 609195 (3)
Spastic paraplegia 27, autosomal recessive (2)
Spastic paraplegia 28, autosomal recessive, 609340 (3)
Spastic paraplegia 29, autosomal dominant (2)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
Spastic paraplegia 31, autosomal dominant, 610250 (3)
Spastic paraplegia 32, autosomal recessive (2)
Spastic paraplegia 33, autosomal dominant, 610244 (3)
Spastic paraplegia 34, X-linked (2)
Spastic paraplegia 35, autosomal recessive, 612319 (3)
Spastic paraplegia 36, autosomal dominant (2)
Spastic paraplegia 37, autosomal dominant (2)
Spastic paraplegia 38, autosomal dominant (2)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
Spastic paraplegia 4, autosomal dominant, 182601 (3)
Spastic paraplegia 42, autosomal dominant, 612539 (3)
Spastic paraplegia 44, autosomal recessive, 613206 (3)
Spastic paraplegia 45, autosomal recessive, 613162 (3)
Spastic paraplegia 46, autosomal recessive, 614409 (3)
Spastic paraplegia 47, autosomal recessive, 614066 (3)
Spastic paraplegia 48, autosomal recessive, 613647 (3)
Spastic paraplegia 49, autosomal recessive, 615031 (3)
Spastic paraplegia 50, autosomal recessive, 612936 (3)
Spastic paraplegia 51, autosomal recessive, 613744 (3)
Spastic paraplegia 52, autosomal recessive, 614067 (3)
Spastic paraplegia 53, autosomal recessive, 614898 (3)
Spastic paraplegia 54, autosomal recessive, 615033 (3)
Spastic paraplegia 55, autosomal recessive, 615035 (3)
Spastic paraplegia 56, autosomal recessive, 615030 (3)
Spastic paraplegia 5A, autosomal recessive, 270800 (3)
Spastic paraplegia 6, autosomal dominant, 600363 (3)
Spastic paraplegia 62, 615681 (3)
Spastic paraplegia 64, autosomal recessive, 615683 (3)
Spastic paraplegia 7, autosomal recessive, 607259 (3)
Spastic paraplegia 75, autosomal recessive, 616680 (3)
Spastic paraplegia 76, autosomal recessive, 616907 (3)
Spastic paraplegia 77, autosomal recessive, 617046 (3)
Spastic paraplegia 78, autosomal recessive, 617225 (3)
Spastic paraplegia 79, autosomal recessive, 615491 (3)
Spastic paraplegia 8, autosomal dominant, 603563 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3)
Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)
Specific granule deficiency 2, 617475 (3)
Specific granule deficiency, 245480 (3)
Specific language impairment QTL, 1 (2)
Speech-language disorder-1, 602081 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Spermatogenic failure 10, 614822 (3)
Spermatogenic failure 11, 615081 (3)
Spermatogenic failure 12, 615413 (3)
Spermatogenic failure 16, 617187 (3)
Spermatogenic failure 18, 617576 (3)
Spermatogenic failure 19, 617592 (3)
Spermatogenic failure 2 (2)
Spermatogenic failure 24, 617959 (3)
Spermatogenic failure 25, 617960 (3)
Spermatogenic failure 28, 618086 (3)
Spermatogenic failure 3, 606766 (3)
Spermatogenic failure 31, 618112 (3)
Spermatogenic failure 32, 618115 (3)
Spermatogenic failure 33, 618152 (3)
Spermatogenic failure 34, 618153 (3)
Spermatogenic failure 35, 618341 (3)
Spermatogenic failure 4, 270960 (3)
Spermatogenic failure 5, 243060 (3)
Spermatogenic failure 7, 612997 (3)
Spermatogenic failure 8, 613957 (3)
Spermatogenic failure 9, 613958 (3)
Spermatogenic failure, X-linked, 2, 309120 (3)
Spermatogenic failure, Y-linked, 1 (4)
Spermatogenic failure, Y-linked, 2, 415000 (3)
Spherocytosis, type 1, 182900 (3)
Spherocytosis, type 2, 616649 (3)
Spherocytosis, type 3, 270970 (3)
Spherocytosis, type 4, 612653 (3)
Spherocytosis, type 5, 612690 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
Spinal muscular atrophy, Jokela type, 615048 (3)
Vesicoureteral reflux 4 (2)
Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
Spinal muscular atrophy, chronic distal, autosomal recessive (2)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 (3)
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 (3)
Spinal muscular atrophy-1, 253300 (3)
Spinal muscular atrophy-2, 253550 (3)
Spinal muscular atrophy-3, 253400 (3)
Spinal muscular atrophy-4, 271150 (3)
Spinocerebellar ataxia 1, 164400 (3)
Spinocerebellar ataxia 10, 603516 (3)
Spinocerebellar ataxia 11, 604432 (3)
Spinocerebellar ataxia 12, 604326 (3)
Spinocerebellar ataxia 13, 605259 (3)
Spinocerebellar ataxia 14, 605361 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 17, 607136 (3)
Spinocerebellar ataxia 18 (2)
Spinocerebellar ataxia 19, 607346 (3)
Spinocerebellar ataxia 2, 183090 (3)
Spinocerebellar ataxia 20 (4)
Spinocerebellar ataxia 21, 607454 (3)
Spinocerebellar ataxia 23, 610245 (3)
Spinocerebellar ataxia 25 (2)
Spinocerebellar ataxia 27, 609307 (3)
Spinocerebellar ataxia 28, 610246 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
Spinocerebellar ataxia 31, 117210 (3)
Spinocerebellar ataxia 32 (2)
Spinocerebellar ataxia 34, 133190 (3)
Spinocerebellar ataxia 35, 613908 (3)
Spinocerebellar ataxia 36, 614153 (3)
Spinocerebellar ataxia 37, 615945 (3)
Spinocerebellar ataxia 38, 615957 (3)
Spinocerebellar ataxia 4 (2)
Spinocerebellar ataxia 42, 616795 (3)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
Spinocerebellar ataxia 44, 617691 (3)
Spinocerebellar ataxia 45, 617769 (3)
Spinocerebellar ataxia 47, 617931 (3)
Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia 6, 183086 (3)
Spinocerebellar ataxia 7, 164500 (3)
Spinocerebellar ataxia 8, 608768 (3)
Spinocerebellar ataxia 8, 608768 (3)
Spinocerebellar ataxia, X-linked 5 (2)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)
Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
Spinocerebellar ataxia, autosomal recessive 27, 618369 (3)
Spinocerebellar ataxia, autosomal recessive 3 (2)
Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)
Spinocerebellar ataxia, autosomal recessive 6 (2)
Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Split hand/foot malformation 1 (4)
Split hand/foot malformation 2 (2)
Split-foot malformation with mesoaxial polydactyly, 616890 (3)
Split-hand/foot malformation 3, gene duplication syndrome (4)
Split-hand/foot malformation 4, 605289 (3)
Split-hand/foot malformation 5 (2)
Split-hand/foot malformation 6, 225300 (3)
Split-hand/foot malformation with long bone deficiency 1 (2)
Split-hand/foot malformation with long bone deficiency 2 (2)
Split-hand/foot malformation with long bone deficiency 3 (4)
Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
Spondylocostal dysostosis 5, 122600 (3)
Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3)
Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3)
Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)
Spondyloepiphyseal dysplasia tarda, 313400 (3)
Spondyloepiphyseal dysplasia tarda, autosomal dominant (2)
Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)
Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
Spondylometaphyseal dysplasia, axial, 602271 (3)
Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)
Spondyloocular syndrome, 605822 (3)
Spondyloperipheral dysplasia, 271700 (3)
Squalene synthase deficiency, 618156 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
Squamous cell carcinoma, head and neck, 275355 (3)
Squamous cell carcinoma, head and neck, somatic, 275355 (3)
Stankiewicz-Isidor syndrome, 617516 (3)
Stapes ankylosis with broad thumbs and toes, 184460 (3)
Stargardt disease 1, 248200 (3)
Stargardt disease 3, 600110 (3)
Stargardt disease 4, 603786 (3)
Steatocystoma multiplex, 184500 (3)
Steel syndrome, 615155 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Stickler syndrome, type II, 604841 (3)
Stickler syndrome, type IV, 614134 (3)
Stiff skin syndrome, 184900 (3)
Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)
Stormorken syndrome, 185070 (3)
Striatal degeneration, autosomal dominant, 609161 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
Striatonigral degeneration, childhood-onset, 617054 (3)
Striatonigral degeneration, infantile, 271930 (3)
Stromme syndrome, 243605 (3)
Structural heart defects and renal anomalies syndrome, 617478 (3)
Sturge-Weber syndrome, somatic, mosaic, 185300 (3)
Stuttering, familial persistent, 1, 184450 (3)
Stuttering, familial persistent, 2 (2)
Stuttering, familial persistent, 3 (2)
Stuttering, familial persistent, 4 (2)
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Subcortical laminal heterotopia, X-linked, 300067 (3)
Subcortical laminar heterotopia, 607432 (3)
Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
Sucrase-isomaltase deficiency, congenital, 222900 (3)
Sudden cardiac failure, infantile, 617222 (3)
Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Sulfite oxidase deficiency, 272300 (3)
Supernumerary der(22)t(8-22) syndrome (4)
Supranuclear palsy, progressive atypical, 260540 (3)
Supranuclear palsy, progressive, 2 (2)
Supranuclear palsy, progressive, 3 (2)
Supranuclear palsy, progressive, 601104 (3)
Supravalvar aortic stenosis, 185500 (3)
Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
Sveinsson chorioretinal atrophy, 108985 (3)
Sweat chloride elevation without CF (3)
Sweeney-Cox syndrome, 617746 (3)
Symmetric circumferential skin creases, congenital, 1, 156610 (3)
Symmetric circumferential skin creases, congenital, 2, 616734 (3)
Symphalangism, proximal, 1A, 185800 (3)
Symphalangism, proximal, 1B, 615298 (3)
Syncope, familial vasovagal (2)
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3)
Syndactyly, type 1, with or without craniosynostosis (4)
Syndactyly, type III, 186100 (3)
Syndactyly, type IV, 186200 (3)
Syndactyly, type V, 186300 (3)
Synesthesia (2)
Synpolydactyly 1, 186000 (3)
Synpolydactyly 3 (2)
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
Systemic lupus erythematosus 16, 614420 (3)
T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
T-cell prolymphocytic leukemia, somatic (3)
TARP syndrome, 311900 (3)
Takenouchi-Kosaki syndrome, 616737 (3)
Tangier disease, 205400 (3)
Tarsal-carpal coalition syndrome, 186570 (3)
Tatton-Brown-Rahman syndrome, 615879 (3)
Tay-Sachs disease, 272800 (3)
Telangiectasia, hereditary benign (2)
Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
Telangiectasia, hereditary hemorrhagic, type 3 (2)
Telangiectasia, hereditary hemorrhagic, type 4 (2)
Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)
Temple syndrome (4)
Temple-Baraitser syndrome, 611816 (3)
Temtamy preaxial brachydactyly syndrome, 605282 (3)
Temtamy syndrome, 218340 (3)
Tenorio syndrome, 616260 (3)
Terminal osseous dysplasia, 300244 (3)
Testicular tumor, somatic, 273300 (3)
Tetraamelia syndrome 2, 618021 (3)
Tetralogy of Fallot, 187500 (3)
Tetralogy of Fallot, 187500 (3)
Tetralogy of Fallot, 187500 (3)
Tetralogy of Fallot, 187500 (3)
Tetralogy of Fallot, 187500 (3)
Tetralogy of Fallot, 187500 (3)
Tetrasomy 18p (4)
Thalassemia due to Hb Lepore (3)
Thalassemia, Hispanic gamma-delta-beta, 613985 (3)
Thalassemia, alpha-, 604131 (3)
Thalassemia, beta, 613985 (3)
Thalassemia, delta- (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
Thalassemias, alpha-, 604131 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
Thauvin-Robinet-Faivre syndrome, 617107 (3)
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Thoracoabdominal syndrome (2)
Thrombocythemia 1, 187950 (3)
Thrombocythemia 2, 601977 (3)
Thrombocythemia 3, 614521 (3)
Thrombocythemia, X-linked (2)
Thrombocythemia, somatic, 187950 (3)
Thrombocythemia, somatic, 187950 (3)
Thrombocytopenia 2, 188000 (3)
Thrombocytopenia 3, 273900 (3)
Thrombocytopenia 4, 612004 (3)
Thrombocytopenia 5, 616216 (3)
Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3)
Thrombocytopenia, X-linked, 313900 (3)
Thrombocytopenia, X-linked, intermittent, 313900 (3)
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3)
Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Thrombocytopenia, neonatal alloimmune (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
Thrombocytopenia-absent radius syndrome, 274000 (3)
Thrombocytopenic purpura, autoimmune, 188030 (1)
Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
Thrombophilia due to antithrombin III deficiency, 613118 (3)
Thrombophilia due to elevated HRG, 613116 (1)
Thrombophilia due to heparin cofactor II deficiency, 612356 (3)
Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3)
Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)
Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Thrombophilia due to thrombin defect, 188050 (3)
Thrombophilia due to thrombomodulin defect, 614486 (3)
Thrombophilia, X-linked, due to factor IX defect, 300807 (3)
Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)
Thrombosis, hyperhomocysteinemic, 236200 (3)
Thrombotic thrombocytopenic purpura, familial, 274150 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
Thyroid carcinoma, nonmedullary, with cell oxyphilia (2)
Thyroid carcinoma, papillary, with papillary renal neoplasia (2)
Thyroid dyshormonogenesis 1, 274400 (3)
Thyroid dyshormonogenesis 2A, 274500 (3)
Thyroid dyshormonogenesis 3, 274700 (3)
Thyroid dyshormonogenesis 4, 274800 (3)
Thyroid dyshormonogenesis 5, 274900 (3)
Thyroid dyshormonogenesis 6, 607200 (3)
Thyroid hormone metabolism, abnormal, 609698 (3)
Thyroid hormone resistance, 188570 (3)
Thyroid hormone resistance, autosomal recessive, 274300 (3)
Thyroid hormone resistance, selective pituitary, 145650 (3)
Thyrotropin-releasing hormone deficiency, 275120 (1)
Thyrotropin-releasing hormone resistance, generalized (3)
Tibial muscular dystrophy, tardive, 600334 (3)
Tietz albinism-deafness syndrome, 103500 (3)
Timothy syndrome, 601005 (3)
Tn polyagglutination syndrome, somatic, 300622 (3)
Toenail dystrophy, isolated, 607523 (3)
Tolbutamide poor metabolizer (3)
Tonne-Kalscheuer syndrome, 300978 (3)
Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3)
Tooth agenesis, selective, 2 (2)
Tooth agenesis, selective, 3, 604625 (3)
Tooth agenesis, selective, 4, 150400 (3)
Tooth agenesis, selective, 5 (2)
Tooth agenesis, selective, 7, 616724 (3)
Tooth agenesis, selective, 8, 617073 (3)
Tooth agenesis, selective, 9, 617275 (3)
Tooth agenesis, selective, X-linked 1, 313500 (3)
Total anomalous pulmonary venous return (2)
Tourette syndrome (2)
Tourette syndrome, 137580 (3)
Townes-Brocks branchiootorenal-like syndrome, 107480 (3)
Townes-Brocks syndrome 1, 107480 (3)
Traboulsi syndrome, 601552 (3)
Transaldolase deficiency, 606003 (3)
Transcobalamin II deficiency, 275350 (3)
Transient bullous of the newborn, 131705 (3)
Transient erythroblastopenia of childhood (2)
Transposition of the great arteries, dextro-looped 1, 608808 (3)
Treacher Collins syndrome 1, 154500 (3)
Vesicoureteral reflux 5 (2)
Treacher Collins syndrome 2, 613717 (3)
Treacher Collins syndrome 3, 248390 (3)
Trehalase deficiency, 612119 (3)
Trichilemmal cyst 1 (2)
Trichodontoosseous syndrome, 190320 (3)
Trichoepithelioma, multiple familial, 1, 601606 (3)
Trichoepithelioma, multiple familial, 2 (2)
Trichohepatoenteric syndrome 1, 222470 (3)
Trichohepatoenteric syndrome 2, 614602 (3)
Trichohepatoneurodevelopmental syndrome, 618268 (3)
Trichomegaly, 190330 (3)
Trichorhinophalangeal syndrome, type I, 190350 (3)
Trichorhinophalangeal syndrome, type II (4)
Trichorhinophalangeal syndrome, type III, 190351 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Trichothiodystrophy 2, photosensitive, 616390 (3)
Trichothiodystrophy 3, photosensitive, 616395 (3)
Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Trichothiodystrophy 6, nonphotosensitive, 616943 (3)
Trifunctional protein deficiency, 609015 (3)
Trifunctional protein deficiency, 609015 (3)
Trigonocephaly 1, 190440 (3)
Trigonocephaly 2, 614485 (3)
Trimethylaminuria, 602079 (3)
Triphalangeal thumb, type I, 174500 (3)
Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
Tropical calcific pancreatitis, 608189 (3)
Troyer syndrome, 275900 (3)
Trypsinogen deficiency, 614044 (1)
Tuberous sclerosis-1, 191100 (3)
Tuberous sclerosis-2, 613254 (3)
Tukel syndrome (2)
Tumor predisposition syndrome, 614327 (3)
Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3)
Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)
Turner syndrome-associated neurocognitive phenotype (2)
Turnpenny-Fry syndrome, 618371 (3)
Tylosis with esophageal cancer, 148500 (3)
Tyrosinemia, type I, 276700 (3)
Tyrosinemia, type II, 276600 (3)
Tyrosinemia, type III, 276710 (3)
UV-sensitive syndrome 1, 600630 (3)
UV-sensitive syndrome 2, 614621 (3)
UV-sensitive syndrome 3, 614640 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
Ulnar-mammary syndrome, 181450 (3)
Uncombable hair syndrome, 191480 (3)
Urbach-Wiethe disease, 247100 (3)
Urofacial syndrome 1, 236730 (3)
Urofacial syndrome 2, 615112 (3)
Usher syndrome type 3B, 614504 (3)
Usher syndrome, type 1B, 276900 (3)
Usher syndrome, type 1C, 276904 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1E (2)
Usher syndrome, type 1F, 602083 (3)
Usher syndrome, type 1G, 606943 (3)
Usher syndrome, type 1H (2)
Usher syndrome, type 2A, 276901 (3)
Usher syndrome, type 2C, 605472 (3)
Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3)
Usher syndrome, type 2D, 611383 (3)
Usher syndrome, type 3A, 276902 (3)
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
Usher syndrome, type IJ, 614869 (3)
Usher syndrome, type IK (2)
Usher syndrome, type IV, 618144 (3)
VACTERL association, X-linked, 314390 (3)
VLCAD deficiency, 201475 (3)
Van Buchem disease, 239100 (3)
Van Maldergem syndrome 1, 601390 (3)
Van Maldergem syndrome 2, 615546 (3)
Van den Ende-Gupta syndrome, 600920 (3)
Van der Woude syndrome 2, 606713 (3)
Vascular malformation, primary intraosseous, 606893 (3)
Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)
Velocardiofacial syndrome, 192430 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
Ventricular septal defect 1, 614429 (3)
Ventricular septal defect 2, 614431 (3)
Ventricular septal defect 3, 614432 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 3 (2)
Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Ventricular tachycardia, idiopathic, 192605 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
Verheij syndrome, 615583 (3)
Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)
Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)
Vertical talus, congenital, 192950 (3)
Vertigo, benign recurrent, 2 (2)
Ververi-Brady syndrome, 617982 (3)
Vesicoureteral reflux (2)
Vesicoureteral reflux 2, 610878 (3)
Vesicoureteral reflux 3, 613674 (3)
Vesicoureteral reflux 6 (2)
Vesicoureteral reflux 7 (2)
Vesicoureteral reflux 8, 615963 (3)
Vestibulopathy, familial (2)
Vibratory urticaria, 125630 (3)
Vici syndrome, 242840 (3)
Visceral myopathy, 155310 (3)
Vitamin D-dependent rickets, type I, 264700 (3)
Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)
Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
Vitreoretinochoroidopathy, 193220 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
Vitreoretinopathy, neovascular inflammatory, 193235 (3)
Vohwinkel syndrome with ichthyosis, 604117 (3)
Vohwinkel syndrome, 124500 (3)
WAGRO syndrome (4)
WHIM syndrome, 193670 (3)
Waardenburg syndrome, type 1, 193500 (3)
Waardenburg syndrome, type 2A, 193510 (3)
Waardenburg syndrome, type 2B (2)
Waardenburg syndrome, type 2C (2)
Waardenburg syndrome, type 2D, 608890 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 3, 148820 (3)
Waardenburg syndrome, type 4A, 277580 (3)
Waardenburg syndrome, type 4B, 613265 (3)
Waardenburg syndrome, type 4C, 613266 (3)
Waardenburg syndrome/albinism, digenic, 103470 (3)
Waardenburg syndrome/ocular albinism, digenic, 103470 (3)
Wagner syndrome 1, 143200 (3)
Warburg micro syndrome 1, 600118 (3)
Warburg micro syndrome 2, 614225 (3)
Warburg micro syndrome 3, 614222 (3)
Warburg micro syndrome 4, 615663 (3)
Warburg-Cinotti syndrome, 618175 (3)
Warfarin resistance, 122700 (3)
Warfarin sensitivity, 122700 (3)
Warsaw breakage syndrome, 613398 (3)
Watson syndrome, 193520 (3)
Weaver syndrome, 277590 (3)
Weill-Marchesani 4 syndrome, recessive, 613195 (3)
Weill-Marchesani syndrome 1, recessive, 277600 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
Welander distal myopathy, 604454 (3)
Werner syndrome, 277700 (3)
Weyers acrofacial dysostosis, 193530 (3)
White sponge nevus 1, 193900 (3)
White sponge nevus 2, 615785 (3)
White-Sutton syndrome, 616364 (3)
Wieacker-Wolff syndrome, 314580 (3)
Wiedemann-Rautenstrauch syndrome, 264090 (3)
Wiedemann-Steiner syndrome, 605130 (3)
Williams-Beuren syndrome (4)
Wilms tumor 2, 194071 (3)
Wilms tumor, 194070 (3)
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (4)
Wilms tumor, somatic, 194070 (3)
Wilms tumor, type 1, 194070 (3)
Wilms tumor, type 3 (2)
Wilms tumor, type 4 (2)
Wilson disease, 277900 (3)
Wilson-Turner syndrome, 309585 (3)
Wiskott-Aldrich syndrome, 301000 (3)
Witteveen-Kolk syndrome, 613406 (3)
Wolcott-Rallison syndrome, 226980 (3)
Wolf-Hirschhorn syndrome (4)
Wolff-Parkinson-White syndrome, 194200 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram syndrome 2, 604928 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
Wolman disease, 278000 (3)
Woodhouse-Sakati syndrome, 241080 (3)
Woods-Black-Norbury syndrome (2)
Woolly hair, autosomal dominant, 194300 (3)
Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3)
Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
Woolly hair, autosomal recessive 3, 616760 (3)
Wrinkly skin syndrome, 278250 (3)
X inactivation, familial skewed, 2 (2)
X-inactivation, familial skewed, 300087 (3)
Xanthinuria, type I, 278300 (3)
Xanthinuria, type II, 603592 (3)
Xeroderma pigmentosum, group A, 278700 (3)
Xeroderma pigmentosum, group B, 610651 (3)
Xeroderma pigmentosum, group C, 278720 (3)
Xeroderma pigmentosum, group D, 278730 (3)
Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
Xeroderma pigmentosum, group F, 278760 (3)
Xeroderma pigmentosum, group G, 278780 (3)
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
Xeroderma pigmentosum, variant type, 278750 (3)
Xia-Gibbs syndrome, 615829 (3)
Xp11.22 microduplication syndrome (4)
Xq25 duplication syndrome (4)
You-Hoover-Fong syndrome, 616954 (3)
Yuan-Harel-Lupski syndrome (4)
Yunis-Varon syndrome, 216340 (3)
ZTTK syndrome, 617140 (3)
Zimmermann-Laband syndrome 1, 135500 (3)
Zimmermann-Laband syndrome 2, 616455 (3)
Zinc deficiency, transient neonatal, 608118 (3)
Zygodactyly 1 (2)
[?Birbeck granule deficiency], 613393 (3)
[?Homosexuality, male] (2)
[?Hyperproglucagonemia] (1)
[?Hypertryptophanemia], 600627 (3)
[?Phosphohydroxylysinuria], 615011 (3)
[AMP deaminase deficiency, erythrocytic], 612874 (3)
[Acetylation, slow], 243400 (3)
[Alpha-actinin-3 deficiency], 617749 (3)
[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
[Anhaptoglobinemia], 614081 (3)
[Aquaporin-1 deficiency], 110450 (3)
[Axillary odor, variation in], 117800 (3)
[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
[Bilirubin, serum level of, QTL1], 601816 (3)
[Birth weight QTL 1] (2)
[Birth weight QTL 2] (2)
[Birth weight QTL 3] (2)
[Birth weight QTL4] (2)
[Blood group Cromer], 613793 (3)
[Blood group GIL], 607457 (3)
[Blood group, ABO system], 616093 (3)
[Blood group, Auberger system], 111200 (3)
[Blood group, Colton], 110450 (3)
[Blood group, Diego], 110500 (3)
[Blood group, Dombrock], 616060 (3)
[Blood group, Duffy system], 110700 (3)
[Blood group, Froese], 601551 (3)
[Blood group, Gerbich], 616089 (3)
[Blood group, Ii], 110800 (3)
[Blood group, Indian system], 609027 (3)
[Blood group, John-Milton-Hagen system], 614745 (3)
[Blood group, Kell], 110900 (3)
[Blood group, Kidd], 111000 (3)
[Blood group, Knops system], 607486 (3)
[Blood group, Landsteiner-Wiener], 111250 (3)
[Blood group, Langereis system], 111600 (3)
[Blood group, Lewis] (3)
[Blood group, Lutheran null], 247420 (3)
[Blood group, Lutheran system], 111200 (3)
[Blood group, MNSs system], 111300 (3)
[Blood group, OK], 111380 (3)
[Blood group, P1PK system, P(k) phenotype], 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
[Blood group, Radin], 111620 (3)
[Blood group, Raph], 179620 (3)
[Blood group, Rhesus] (3)
[Blood group, Rodgers], 614374 (3)
[Blood group, Scianna system], 111750 (3)
[Blood group, Ss], 111740 (3)
[Blood group, Stoltzfus system] (2)
[Blood group, Swann], 601550 (3)
[Blood group, Vel system], 615264 (3)
[Blood group, Waldner], 112010 (3)
[Blood group, Wright], 112050 (3)
[Blood group, XG system] (3)
[Blood group, Yt system], 112100 (3)
[Blood group, globoside system], 615021 (3)
[Blood pressure regulation QTL], 145500 (2)
[Blood pressure regulation QTL], 145500 (2)
[Body mass index QTL 15] (2)
[Body mass index QTL13] (2)
[Body mass index QTL16] (4)
[Body mass index QTL1] (2)
[Body mass index QTL2] (2)
[Body mass index QTL3] (2)
[Body mass index QTL5] (2)
[Body mass index QTL6] (2)
[Bombay phenotype, digenic], 616754 (3)
[Bombay phenotype], 616754 (3)
[Bone mineral density QTL 10] (2)
[Bone mineral density QTL 11] (2)
[Bone mineral density QTL 13] (2)
[Bone mineral density QTL 14] (2)
[Bone mineral density QTL 15], 613418 (3)
[Bone mineral density QTL 2] (2)
[Bone mineral density QTL 3] (2)
[Bone mineral density QTL 4] (2)
[Bone mineral density QTL 5] (2)
[Bone mineral density QTL 6] (2)
[Bone mineral density QTL 9] (2)
[Bone mineral density variability 1], 601884 (3)
[Bone size quantitative trait locus 3] (2)
[C-reactive protein QTL] (2)
[C3HEX, ability to smell], 615082 (3)
[Chitotriosidase deficiency], 614122 (3)
[Cholesterol level QTL 1] (2)
[Cholesterol level QTL 2] (2)
[Cinnamon odor, pleasantness of] (2)
[Colostrum secretion, variation in], 117800 (3)
[Creatine kinase, brain type, ectopic expression of] (2)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
[Dystransthyretinemic hyperthyroxinemia], 145680 (3)
[Earwax, wet/dry], 117800 (3)
[Eculizumab, poor response to], 615749 (3)
[Eosinophil peroxidase deficiency], 261500 (3)
[Erythrocytosis, familial, 1], 133100 (3)
[Ezetimibe, nonresponse to], 617966 (3)
[Fasting insulin level quantitative trait locus 1] (2)
[Fasting plasma glucose level QTL 1] (2)
[Fasting plasma glucose level QTL 2] (2)
[Fasting plasma glucose level QTL 3] (2)
[Fasting plasma glucose level QTL 4] (2)
[Fasting plasma glucose level QTL 5], 613463 (3)
[Fasting plasma glucose level QTL 6] (2)
[Fetal hemoglobin QTL5] (2)
[Fleck retina, familial benign], 228980 (3)
[Fructosuria], 229800 (3)
[Gamma-glutamyltransferase, familial high serum] (2)
[Gilbert syndrome], 143500 (3)
[Glycerol quantitative trait locus], 614411 (3)
[Glyoxalase II deficiency], 614033 (1)
[Hair morphology 1, hair thickness], 612630 (3)
[Handedness] (2)
[Hematocrit/hemoglobin quantitative trait locus 1] (2)
[Hematocrit/hemoglobin quantitative trait locus 2] (2)
[Hematocrit/hemoglobin quantitative trait locus 3] (2)
[Hemoglobin, high altitude adaptation], 609070 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
[Hex A pseudodeficiency], 272800 (3)
[High density lipoprotein cholesterol level QTL 10], 143470 (3)
[High density lipoprotein cholesterol level QTL 11] (3)
[High density lipoprotein cholesterol level QTL 12], 612797 (3)
[High density lipoprotein cholesterol level QTL 1] (2)
[High density lipoprotein cholesterol level QTL 2] (2)
[High density lipoprotein cholesterol level QTL 4] (2)
[High density lipoprotein cholesterol level QTL 5] (2)
[High density lipoprotein cholesterol level QTL 8] (3)
[High density lipoprotein cholesterol level QTL 9] (3)
[High density lipoprotein cholesterol level QTL6], 610762 (3)
[High molecular weight kininogen deficiency], 228960 (3)
[Histidinemia], 235800 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
[Hyperproreninemia] (3)
[Hypoceruloplasminemia, hereditary], 604290 (3)
[Hypohaptoglobinemia], 614081 (3)
[IMPDH2 enzyme activity, variation in], 617995 (3)
[IgE, elevated level of], 147050 (3)
[IgG receptor I, phagocytic, familial deficiency of] (3)
[Inosine triphosphatase deficiency], 613850 (3)
[Interleukin 6, serum level of, QTL], 614752 (3)
[Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3)
[Junior blood group system], 614490 (3)
[Kallikrein, decreased urinary activity of], 615953 (3)
[Kininogen deficiency], 228960 (3)
[LPA deficiency, congenital] (3)
[Lactate dehydrogenase-B deficiency], 614128 (3)
[Lean body mass QTL 1] (2)
[Leptin serum levels QTL1] (2)
[Longevity 1] (2)
[Longevity 2] (2)
[Low density lipoprotein cholesterol level QTL 3] (3)
[Low density lipoprotein cholesterol level QTL 7], 617966 (3)
[Low density lipoprotein cholesterol level QTL 8], 618079 (3)
[Low density lipoprotein cholesterol level QTL6], 613589 (3)
[Macrothrombocytopenia] (1)
[Malaria, resistance to], 611162 (3)
[Maleylacetoacetate isomerase deficiency], 617596 (3)
[Mean platelet volume QTL1] (2)
[Mean platelet volume QTL2] (2)
[Mean platelet volume QTL3] (2)
[Memory, enhanced, QTL], 615602 (3)
[Musical aptitude QTL 1] (2)
[Novelty seeking personality], 601696 (1)
[Obesity, resistance to] (3)
[Pentosuria], 260800 (3)
[Phenylthiocarbamide tasting], 171200 (3)
[Placental lactogen deficiency] (1)
[Plasma glucose, 2-hour, QTL 1] (2)
[Plasma glucose, 2-hour, QTL 2] (2)
[Polyunsaturated fatty acids plasma level QTL1] (2)
[Premature chromatid separation trait], 176430 (3)
[Protein Z deficiency], 614024 (3)
[QT interval, variation in] (2)
[Respiratory rhythmicity in sleep] (2)
[Resting heart rate], 607276 (3)
[Rh-negative blood type] (3)
[Sarcosinemia], 268900 (3)
[Sedoheptulokinase deficiency], 617213 (3)
[Sex hormone-binding globulin circulating level QTL 1] (2)
[Short sleeper], 612975 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3)
[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
[Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
[Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3)
[Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3)
[Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
[Skin/hair/eye pigmentation, variation in, 8], 611724 (3)
[Social cognition] (2)
[Sodium serum level QTL 1], 613508 (3)
[Sprinting performance], 617749 (3)
[Statins, attenuated cholesterol lowering by] (3)
[Superoxide dismutase, elevated extracellular] (3)
[Telomere length, mean leukocyte] (2)
[Thyroid-stimulating hormone level QTL 1] (2)
[Thyroxine-binding globulin QTL], 300932 (3)
[Transferrin serum level QTL2], 614193 (3)
[Tuberculin skin test reactivity QTL] (2)
[Tuberculin skin test reactivity, absence of] (2)
[Urate oxidase deficiency] (1)
[Uric acid concentration, serum, QTL1], 138900 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
[Uric acid concentration, serum, QTL5] (2)
[Uric acid concentration, serum, QTL6] (2)
[Visuospatial/perceptual abilities] (2)
[White blood cell count QTL], 611862 (3)
van Buchem disease, type 2, 607636 (3)
van der Woude syndrome, 119300 (3)
von Hippel-Lindau syndrome, 193300 (3)
von Willebrand disease, platelet-type, 177820 (3)
von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
{46XY sex reversal 8, modifier of}, 614279 (3)
{?Allergy and asthma susceptibility} (2)
{?Amyloidosis, secondary, susceptibility to} (1)
{?Autism susceptibility 16}, 613410 (3)
{?Breast cancer susceptibility}, 114480 (1)
{?Colorectal cancer, susceptibility to}, 114500 (3)
{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
{?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 (3)
{?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 (3)
{?Erythroleukemia, familial, susceptibility to}, 133180 (3)
{?Hearing loss, cisplatin-induced, susceptibility to} (2)
{?Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
{?Hypertension, essential} (1)
{?IgA nephropathy, susceptibility to, 3}, 616818 (3)
{?Macular degeneration, age-related}, 603075 (3)
{?Major affective disorder 2} (2)
{?Membranous nephropathy, susceptibility to} (2)
{?Obesity, susceptibility to, BMIQ18}, 615457 (3)
{?Obesity, susceptibility to}, 601665 (3)
{?Parkinson disease 5, susceptibility to}, 613643 (3)
{?SLE susceptibility} (1)
{?Schizophrenia susceptibility 18}, 615232 (3)
{?Schizophrenia, susceptibility to}, 603013 (1)
{?Schizophrenia}, 181500 (2)
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)
{AIDS, delayed/rapid progression to}, 609423 (3)
{AIDS, rapid progression to}, 609423 (3)
{AIDS, resistance to}, 609423 (3)
{AIDS, slow progression to}, 609423 (3)
{AIDS, slow progression to}, 609423 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Accelerated tumor formation, susceptibility to}, 614401 (3)
{Adiponectin, serum level of, QTL2} (2)
{Adiponectin, serum level of, QTL3} (2)
{Adiponectin, serum level of, QTL4} (2)
{Adiponectin, serum level of, QTL5] (2)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Age-related hearing impairment 1} (2)
{Age-related hearing impairment 2} (2)
{Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
{Alcohol dependence, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
{Alcohol dependence, susceptibility to}, 103780 (3)
{Alcohol dependence, susceptibility to}, 103780 (3)
{Alkaline phosphatase, plasma level of, QTL 2} (2)
{Alkaline phosphatase, plasma level of, QTL1} (2)
{Alkaline phosphatase, plasma level of, QTL3} (2)
{Alkaline phosphatase, plasma level of, QTL4} (2)
{Allergic rhinitis, susceptibility to}, 607154 (3)
{Alzheimer disease 12} (2)
{Alzheimer disease 16} (2)
{Alzheimer disease 18, susceptibility to}, 615590 (3)
{Alzheimer disease 9, susceptibility to}, 608907 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
{Alzheimer disease-13} (2)
{Alzheimer disease-14} (2)
{Alzheimer disease-15} (2)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3)
{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
{Aneurysm, familial abdominal 3} (2)
{Aneurysm, intracranial berry, 10} (2)
{Aneurysm, intracranial berry, 6} (2)
{Aneurysm, intracranial berry, 9} (2)
{Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)
{Anorexia nervosa, susceptibility to, 1} (2)
{Anorexia nervosa, susceptibility to}, 606788 (3)
{Antisocial behavior}, 300615 (3)
{Anxiety-related personality traits}, 607834 (3)
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
{Aplastic anemia, susceptibility to}, 609135 (3)
{Aplastic anemia}, 609135 (3)
{Aplastic anemia}, 614743 (3)
{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3)
{Asperger syndrome susceptibility 1} (2)
{Asperger syndrome susceptibility 2} (2)
{Asperger syndrome susceptibility 3} (2)
{Asperger syndrome susceptibility 4} (2)
{Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
{Asperger syndrome susceptibility, X-linked 2}, 300497 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
{Asthma susceptibility 5}, 611064 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
{Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
{Asthma, nocturnal, susceptibility to}, 600807 (3)
{Asthma, protection against}, 600807 (3)
{Asthma, susceptibility to, 1}, 607277 (3)
{Asthma, susceptibility to, 2}, 608584 (3)
{Asthma, susceptibility to}, 600807 (2)
{Asthma, susceptibility to}, 600807 (3)
{Asthma, susceptibility to}, 600807 (3)
{Asthma, susceptibility to}, 600807 (3)
{Asthma, susceptibility to}, 600807 (3)
{Asthma, susceptibility to}, 600807 (3)
{Asthma, susceptibility to}, 600807 (3)
{Asthma-related traits, susceptibility to, 3} (2)
{Asthma-related traits, susceptibility to, 4} (2)
{Asthma-related traits, susceptibility to, 6} (2)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
{Asthma-related traits, susceptibility to, 8} (2)
{Atherosclerosis, susceptibility to} (2)
{Atherosclerosis, susceptibility to} (3)
{Atherosclerosis, susceptibility to} (3)
{Atopy, susceptibility to}, 147050 (3)
{Atopy, susceptibility to}, 147050 (3)
{Atopy, susceptibility to}, 147050 (3)
{Atrial fibrillation, familial, 5} (2)
{Atrioventricular septal defect, susceptibility to, 1} (2)
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 5} (2)
{Attention deficit-hyperactivity disorder, susceptibility to, 6} (2)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Attention deficit-hyperactivity disorder}, 143465 (2)
{Attention deficit-hyperactivity disorder}, 143465 (2)
{Attention deficit-hyperactivity disorder}, 143465 (2)
{Attention deficit-hyperactivity disorder}, 143465 (2)
{Attention deficit-hyperactivity disorder}, 143465 (3)
{Autism susceptibility 11} (2)
{Autism susceptibility 12} (2)
{Autism susceptibility 13} (2)
{Autism susceptibility 14A} (2)
{Autism susceptibility 15}, 612100 (3)
{Autism susceptibility 17}, 613436 (3)
{Autism susceptibility 1} (2)
{Autism susceptibility 3} (2)
{Autism susceptibility 4} (2)
{Autism susceptibility 6} (2)
{Autism susceptibility 7} (2)
{Autism susceptibility 8} (2)
{Autism susceptibility, X-linked 1}, 300425 (3)
{Autism susceptibility, X-linked 2}, 300495 (3)
{Autism susceptibility, X-linked 3}, 300496 (3)
{Autism, susceptibility to, 10} (2)
{Autism, susceptibility to, 14B} (2)
{Autism, susceptibility to, 18}, 615032 (3)
{Autism, susceptibility to, 19}, 615091 (3)
{Autism, susceptibility to, 9} (2)
{Autism, susceptibility to, X-linked 4}, 300830 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
{Autism, susceptibility to, X-linked 6}, 300872 (3)
{Autoimmune disease, susceptibility to, 1}, 607836 (3)
{Autoimmune disease, susceptibility to, 2} (2)
{Autoimmune disease, susceptibility to, 3} (2)
{Autoimmune disease, susceptibility to, 4} (2)
{Autoimmune disease, susceptibility to, 5} (2)
{Autoimmune disease, susceptibility to, 6}, 613551 (3)
{Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
{Autoimmune thyroid disease, susceptibility to, 1} (2)
{Autoimmune thyroid disease, susceptibility to, 2} (2)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
{Autoimmune thyroid disease, susceptibility to, 4} (2)
{Bacteremia, protection against}, 614382 (3)
{Bacteremia, susceptibility to}, 614383 (3)
{Bardet-Biedl syndrome 1, modifier of}, 209900 (3)
{Bardet-Biedl syndrome 1, modifier of}, 209900 (3)
{Bardet-Biedl syndrome 14, modifier of}, 615991 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Basal cell carcinoma, susceptibility to, 1} (2)
{Basal cell carcinoma, susceptibility to, 2} (2)
{Basal cell carcinoma, susceptibility to, 3} (2)
{Basal cell carcinoma, susceptibility to, 4} (2)
{Basal cell carcinoma, susceptibility to, 5} (2)
{Basal cell carcinoma, susceptibility to, 6} (2)
{Benzene toxicity, susceptibility to} (3)
{Beryllium disease, chronic, susceptibility to} (3)
{Biliary cirrhosis, primary, 2} (2)
{Biliary cirrhosis, primary, 3} (2)
{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
{Blepharospasm, primary benign}, 606798 (3)
{Celiac disease, susceptibility to, 13} (2)
{Bone mineral density QTL 12, osteoporosis}, 612560 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
{Bone mineral density, low, susceptibility to}, 615311 (3)
{Bone size QTL} (2)
{Bone size QTL} (2)
{Breast and colorectal cancer, susceptibility to} (3)
{Breast cancer, early-onset, susceptibility to}, 114480 (3)
{Breast cancer, invasive ductal}, 114480 (3)
{Breast cancer, lobular}, 114480 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
{Breast cancer, poor survival after chemotherapy for} (3)
{Breast cancer, protection against}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast cancer, susceptibility to}, 114480 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
{Breast-ovarian cancer, familial, 2}, 612555 (3)
{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3)
{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
{Budd-Chiari syndrome}, 600880 (3)
{Bulimia nervosa, susceptibility to} (2)
{Buruli ulcer, susceptibility to}, 610446 (3)
{Cancer progression/metastasis} (3)
{Cardiac conduction defect, susceptibility to}, 115080 (3)
{Cataract 28, age-related cortical, susceptibility to} (2)
{Celiac disease, susceptibility to, 10} (2)
{Celiac disease, susceptibility to, 11} (2)
{Celiac disease, susceptibility to, 12} (2)
{Celiac disease, susceptibility to, 2} (2)
{Celiac disease, susceptibility to, 3}, 609755 (3)
{Celiac disease, susceptibility to, 4}, 609753 (3)
{Celiac disease, susceptibility to, 5} (2)
{Celiac disease, susceptibility to, 6} (2)
{Celiac disease, susceptibility to, 7} (2)
{Celiac disease, susceptibility to, 8} (2)
{Celiac disease, susceptibility to, 9} (2)
{Celiac disease, susceptibility to}, 212750 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Centronuclear myopathy, autosomal, modifier of}, 160150 (3)
{Cerebral infarction, susceptibility to}, 601367 (3)
{Chordoma, susceptibility to} (4)
{Choroid plexus papilloma}, 260500 (3)
{Chronic infections, due to MBL deficiency}, 614372 (3)
{Chronic mountain sickness, susceptibility to} (2)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
{Codeine sensitivity}, 608902 (3)
{Colchicine resistance}, 120080 (3)
{Colon cancer, susceptibility to}, 114500 (3)
{Colonic adenoma recurrence, reduced risk of}, 114500 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
{Colorectal cancer, susceptibility to, 11} (2)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
{Colorectal cancer, susceptibility to, 1}, 608812 (3)
{Colorectal cancer, susceptibility to, 2} (2)
{Colorectal cancer, susceptibility to, 3}, 612229 (3)
{Colorectal cancer, susceptibility to, 4} (4)
{Colorectal cancer, susceptibility to, 5} (2)
{Colorectal cancer, susceptibility to, 6} (2)
{Colorectal cancer, susceptibility to, 7} (2)
{Colorectal cancer, susceptibility to, 8} (2)
{Colorectal cancer, susceptibility to, 9} (2)
{Colorectal cancer, susceptibility to}, 114500 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
{Colorectal cancer}, 114500 (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
{Coronary artery disease, modifier of} (3)
{Coronary artery disease, resistance to}, 607339 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
{Coronary artery disease, susceptibility to} (1)
{Coronary artery disease, susceptibility to} (3)
{Coronary artery disease, susceptibility to} (3)
{Coronary artery disease, susceptibility to} (3)
{Coronary artery spasm 1, susceptibility to} (3)
{Coronary artery spasm 2, susceptibility to (3)
{Coronary heart disease, susceptibility to, 2} (2)
{Coronary heart disease, susceptibility to, 3} (2)
{Coronary heart disease, susceptibility to, 4} (2)
{Coronary heart disease, susceptibility to, 5}, 608901 (3)
{Coronary heart disease, susceptibility to, 6}, 614466 (3)
{Coronary heart disease, susceptibility to, 7}, 610938 (3)
{Coronary heart disease, susceptibility to, 8} (2)
{Coronary heart disease, susceptibility to, 9} (2)
{Coronary heart disease, susceptibility to} (2)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
{Craniosynostosis 7, susceptibility to}, 617439 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Crohn disease-associated growth failure}, 266600 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
{Deafness, autosomal recessive 12, modifier of}, 601386 (3)
{Deafness, mitochondrial, modifier of}, 580000 (3)
{Deafness, nonsyndromic, modifier 1} (2)
{Debrisoquine sensitivity}, 608902 (3)
{Deep venous thrombosis, protection against}, 300807 (3)
{Delayed sleep phase disorder, susceptibility to}, 614163 (3)
{Delayed sleep phase syndrome, susceptibility to} (2)
{Dementia, vascular, susceptibility to} (3)
{Dengue fever, protection against}, 614371 (3)
{Dermatitis, atopic, susceptibility to, 1} (2)
{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
{Dermatitis, atopic, susceptibility to, 3} (2)
{Dermatitis, atopic, susceptibility to, 4} (2)
{Dermatitis, atopic, susceptibility to, 5} (2)
{Dermatitis, atopic, susceptibility to, 6} (2)
{Dermatitis, atopic, susceptibility to, 7} (2)
{Dermatitis, atopic, susceptibility to, 8} (2)
{Dermatitis, atopic, susceptibility to, 9} (2)
{Diabetes mellitus, insulin-dependent, 11} (2)
{Diabetes mellitus, insulin-dependent, 12}, 601388 (3)
{Diabetes mellitus, insulin-dependent, 13} (2)
{Diabetes mellitus, insulin-dependent, 15} (2)
{Diabetes mellitus, insulin-dependent, 17} (2)
{Diabetes mellitus, insulin-dependent, 18} (2)
{Diabetes mellitus, insulin-dependent, 19} (2)
{Diabetes mellitus, insulin-dependent, 21} (2)
{Diabetes mellitus, insulin-dependent, 22}, 612522 (3)
{Diabetes mellitus, insulin-dependent, 23} (2)
{Diabetes mellitus, insulin-dependent, 24} (2)
{Diabetes mellitus, insulin-dependent, 3} (2)
{Diabetes mellitus, insulin-dependent, 4} (2)
{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
{Diabetes mellitus, insulin-dependent, 6} (2)
{Diabetes mellitus, insulin-dependent, 7} (2)
{Diabetes mellitus, insulin-dependent, 8} (2)
{Diabetes mellitus, insulin-dependent, X-linked} (2)
{Diabetes mellitus, insulin-dependent-1} (2)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (2)
{Diabetes mellitus, noninsulin-dependent}, 125853 (2)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
{Diabetes mellitus, transient neonatal, 1}, 601410 (4)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
{Diabetes mellitus, type I, susceptibility to}, 222100 (3)
{Diabetes mellitus, type II, susceptibility to}, 125853 (3)
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
{Diabetes, susceptibility to}, 222100, 125853 (3)
{Diabetes, type 1, susceptibility to}, 222100 (2)
{Diabetes, type 1, susceptibility to}, 222100 (3)
{Diabetes, type 2, susceptibility to}, 125853 (3)
{Diabetes, type 2}, 125853 (3)
{Diphtheria, susceptibility to} (1)
{Dravet syndrome, modifier of}, 607208 (3)
{Drug addiction, susceptibility to}, 606581 (3)
{Drug metabolism, altered, CYP2C8-related}, 618018 (3)
{Drug-induced liver injury due to flucloxacillin} (3)
{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
{Dyslexia, susceptibility to, 1}, 127700 (3)
{Dyslexia, susceptibility to, 2} (2)
{Dyslexia, susceptibility to, 3} (2)
{Dyslexia, susceptibility to, 5} (2)
{Dyslexia, susceptibility to, 6} (2)
{Dyslexia, susceptibility to, 8} (2)
{Dyslexia, susceptibility to, 9} (2)
{Dystonia-1, modifier of} (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)
{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)
{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
{Endometrial cancer, familial}, 608089 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
{Endometriosis, susceptibility to, 1} (2)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
{Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3)
{Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3)
{Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
{Epilepsy, idiopathic generalized, 10}, 613060 (3)
{Epilepsy, idiopathic generalized, susceptibility to 4} (2)
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 1} (2)
{Epilepsy, idiopathic generalized, susceptibility to, 2} (2)
{Epilepsy, idiopathic generalized, susceptibility to, 3} (2)
{Epilepsy, idiopathic generalized, susceptibility to, 5} (2)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 7} (2)
{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3)
{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 9} (2)
{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
{Esophageal cancer, alcohol-related, susceptibility to} (3)
CLINICAL GENOMICS DATABASE:
Maturity onset diabetes of the young, 1
Mental retardation, autosomal recessive 51
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
Limb-girdle muscular dystrophy, type 1G
Au-Kline syndrome
Hyperoxaluria, primary, type III
Deafness, autosomal dominant 68
Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Hand-foot-genital syndrome
Guttmacher syndrome
Hand-foot-uterus syndrome
Microtia, hearing impairment, and cleft palate
Facial paresis, hereditary congenital, 3
Ectodermal dysplasia 9
Vertical talus, congenital
Brachydactyly-syndactyly syndrome
Brachydactyly, type D
Brachydactyly, type E1
Syndactyly, type V
Synopolydactyly, type I, Synopolydactyly, type II
Synopolydactyly with clefting, autosomal recessive
Anhaptoglobinemia
Hypohaptoglobinemia
Dystonia 2, torsion, autosomal recessive
Tyrosinemia, type III
Hawksinuria
Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Cranioosteoarthropathy
Digital clubbing, isolated congenital
Kelley-Seegmiller syndrome
Lesch-Nyhan syndrome
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Ochoa syndrome
Urofacial syndrome 1
Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
Costello syndrome
Congenital myopathy with excess of muscle spindles
Thrombophilia due to histidine-rich glycoprotein deficiency
Hypogonadotropic hypogonadism 15, with or without anosmia
Cortisone reductase deficiency 1
Cortisol 11-beta-ketoreductase deficiency
17-beta-hydroxysteroid dehydrogenase X deficiency
Mental retardation, X-linked syndromic 10
17-Beta hydroxysteroid dehydrogenase III deficiency
Perrault syndrome
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
Bile acid synthesis defect, congenital, 1
Cataract 5, multiple types
Abacavir, susceptibility to toxicity with
Anemia, sideroblastic 4
Neuropathy, distal hereditary motor, type IIB
Charcot-Marie-Tooth disease, axonal, type 2F
Neuronopathy, distal hereditary motor, type IIC
Charcot-Marie-Tooth disease, axonal, type 2L
Distal hereditary motor neuronopathy IIA
Spastic paraplegia-13
Leukodystrophy, hypomyelinating, 4
Schwartz-Jampel syndrome, type 1
Periodic fever, menstrual cycle dependent
Major depressive disorder, response to citalopram therapy in
Clozapine, response to
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
Huntington disease
Mental retardation, X-linked syndromic, Turner type
Mucopolysaccharidosis type IX
Hydrolethalus syndrome
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)
Multiple mitochondrial dysfunctions syndrome 3
Spastic paraplegia 74, autosomal recessive
Blood group, Landsteiner-Wiener
Endocrine-cerebroosteodysplasia
Immunodeficiency, common variable, 1
D-2-hydroxyglutaric aciduria 2
Retinitis pigmentosa, autosomal recessive, IDH3B-related
Mucopolysaccharidosis type II
Mucopolysaccharidosis type I
Microcephaly, epilepsy, and diabetes syndrome
Singleton-Merten syndrome 1
Osteogenesis imperfecta, type V
Immunodeficiency 45
Immunodeficiency 27B
Immunodeficiency 27A
Immunodeficiency 28
Drug metabolism, IL28B-related
Cranioectodermal dysplasia 1
Sensenbrenner syndrome
Short-rib thoracic dysplasia 9 with or without polydactyly
Retinitis pigmentosa 71
Short -rib thoracic dysplasia 10 with or without polydactyly
Bardet Biedl syndrome 19
Cranioectodermal dysplasia 3
Short-rib thoracic dysplasia 2 with or without polydactyly
Ciliopathy, IFT88-related
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
Insulin-like growth factor I deficiency
Insulin-like growth factor I, resistance to
Growth restriction, severe, with distinctive facies
Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Agammaglobulinemia 1
Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
Immunoglobulin kappa light chain deficiency
Agammaglobulinemia 2
Central hypothyroidism and testicular enlargement
Lacrimal duct defect
Acrocapitofemoral dysplasia
Dysautonomia, familial
Immunodeficiency 15
Immunodeficiency 33
Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
Immunodeficiency, isolated
Incontinentia pigmenti
Invasive pneumococcal disease, recurrent, isolated, 2
Immunodeficiency, common variable, 13
Graft vs. host disease
Inflammatory bowel disease 28, autosomal recessive
Inflammatory bowel disease 25, early onset, autosomal recessive
Craniosynostosis and dental anomalies
Immunodeficiency 29
Immunodeficiency 30
Candidiasis, familial, 6
Candiasis, familial, 5
Candiasis, familial, 9
Hypogonadotropic hypogonadism 18, with or without anosmia
Mental retardation, X-linked 21/34
Osteomyelitis, sterile multifocal, with periostitis and pustulosis
Immunodeficiency, common variable, 11
Immunodeficiency, primary, autosomal recessive, IL21R-related
Interleukin 2 receptor, alpha, deficiency of
Combined immunodeficiency, X-linked
Amyloidois, primary localized cutaneous, 2
Pustular psoriasis, generalized
Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
Deafness, autosomal recessive 42
Chondrodysplasia with joint dislocations, GPAPP type
Retinitis pigmentosa 10
Leber congenital amaurosis 11
IMPDH2 enzyme activity, variation in
Macular dystrophy, vitelliform, 4
Retinitis pigmentosa 56
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
Opsismodysplasia
Cryptorchidism
Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
Nephronophthisis 2
Small intestinal carcinoid, hereditary
Senior-Loken syndrome 5
Mental retardation, X-linked 1
IRAK4 deficiency
Invasive pneumococcal disease, recurrent, isolated, 1
Herpes simplex encephalitis, susceptibility to, 7
Skin/hair/eye pigmentation, variation in, 8
Popliteal pterygium syndrome
van der Woude syndrome 1
Orofacial cleft 6
Immunodeficiency 39
Immunodeficiency 32A (CD11C-positive/CD1C-positive dendritic cell deficiency)
Immunodeficiency 32B (monocyte and dendritic cell deficiency)
Multiple mitochondrial dysfunctions syndrome 4
Myopathy with lactic acidosis, hereditary
Immunodeficiency 38, with basal ganglia calcification
Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
Autoimmune disease, syndromic multisystem
Glanzmann thrombasthenia
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Epidermolysis bullosa, junctional, with pyloric stenosis
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
Renal agenesis, bilateral
Leukocyte adhesion deficiency, type I
Bleeding disorder, platelet-type, 16, autosomal dominant
Thrombocytopenia, neonatal alloimmune
Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa simplex, Weber-Cockayne type
Amelogenesis imperfecta, type IH
Lymphoproliferative syndrome 1
Dementia, familial Danish
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
Inosine triphosphatase deficiency
Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
Isovaleric acidemia
Thyroid dyshormonogenesis 4
Alagille syndrome
Neutropenia, severe congenital, 6
Thrombocythemia 3
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Cardiomyopathy, familial hypertrophic 17
Huntington disease-like 2
Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
Cerebral palsy, spastic quadriplegic, 2
Palmoplantar keratoderma and woolly hair
Koolen-de Vries syndrom
Charcot-Marie-Tooth disease, recessive intermediate B
Mental retardation, autosomal dominant 32
Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
Lissencephaly 6, with microcephaly
Nemaline myopathy 6
Episodic ataxia, type 1/myokymia syndrome
Epileptic encephalopathy, early infantile 32
Atrial fibrillation, familial, 7
Epilepsy, progressive myoclonic 7
Spinocerebellar ataxia 13
Brugada syndrome 9
Long QT syndrome 5
Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 6
Atrial fibrillation, familial 4
Brugada syndrome 6
Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
Long QT syndrome 2
Short QT syndrome 1
Bartter syndrome, antenatal, type 2
Enlarged vestibular aqueduct, digenic
Pendred syndrome, digenic
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome)
Hyperinsulinemic hypoglycemia, familial, 2
Diabetes mellitus, transient neonatal, 3
Diabetes, permanent neonatal, with Neurologic features
Snowflake vitreoretinal degeneration
Leber congenital amaurosis 16
Thyrotoxic periodic paralysis, susceptibility to
Atrial fibrillation, familial 9
Short QT syndrome 3
Andersen syndrome
Long QT syndrome 7
Long QT syndrome 13
Hyperaldosteronism, familial, type III
Keppen-Lubinsky syndrome
Migraine, with or without aura, susceptibility to, 13
Pulmonary artery hypertension, familial
Birk-Barel mental retardation dysmorphism syndrome
Generalized epilepsy and paroxysmal dyskinesia
Dehydrated hereditary stomatocytosis 2
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome 2
Atrial fibrillation, familial 3
Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
Seizures, benign neonatal, 2
Deafness, autosomal dominant 2A
Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
Retinal cone dystrophy 3B
Dystonia 26, myoclonic
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
Cleft palate, psychomotor retardation, and distinctive facial features
Mental retardation, X-linked, syndromic, Claes-Jensen type
Kabuki syndrome 2
Blood group, Kell system
Cornea plana 2, autosomal recessive
Hydatidiform mole, recurrent, 2
Fructosuria, essential
Spastic paraplegia 8
Ritscher-Schinzel syndrome 1 (3C syndrome)
Joubert syndrome 26
Joubert syndrome 23
Short rib thoracic dysplasia 14 with polydactyly
Mental retardation, autosomal recessive 43
Mental retardation, X-linked 98
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Meckel syndrome 12
Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
Neuroblastoma, susceptibility to
Pheochromocytoma
Goldberg-Shprintzen megacolon syndrome
Spastic ataxia 2, autosomal recessive
Fibrosis of extraocular muscles, congenital 1
Fibrosis of extraocular muscles, congenital 3B
Spondyloepimetaphyseal dysplasia with joint laxity, type 2
Cortical dysplasia, complex, with other brain malformations 3
Mental retardation, X-linked 100
Spastic paraplegia 10, autosomal dominant
Cortical dysplasia, complex, with other brain malformations 2
Hydrolethalus syndrome 2
Joubert syndrome 12
Al-Gazali-Bakalinova syndrome
Mental retardation, autosomal dominant 4
Hypogonadotropic hypogonadism 13 with or without anosmia
Hypogonadotropic hypogonadism 8 with or without anosmia
Gastrointestinal stromal tumor
Congenital unilateral or asymmetric deafness
Retinitis pigmentosa 69
Spastic paraplegia, optic atrophy, and neuropathy
Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
Maturity-onset diabetes of the young, type VII
Hodgkin lymphoma
Spermatogenic failure 11
Pseudohypoaldosteronism, type IID
Nemaline myopathy 8
Nemaline myopathy 9
Retinitis pigmentosa 42
Amelogenesis imperfecta, type IIA1
Prekallikrein deficiency
Cowden syndrome 4
Wiedemann-Steiner syndrome
Kabuki syndrome 1
High molecular weight kininogen deficiency
Mental retardation, autosomal recessive 41
Cerebral cavernous malformations 1
Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis with confetti
Meesmann corneal dystrophy
White sponge nevus 2
Epidermolysis bullosa simplex, autosomal recessive
Naegeli-Franceschetti-Jadassohn syndrome
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Dowling-Meara type
Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
Steatocystoma multiplex
Pachyonychia congenita 2
Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
Woolly hair, autosomal recessive 3
White sponge nevus 1
Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease 1
Pachyonychia congenita 3
Pachyonychia congenita 4
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Hypotrichosis 13
Ectodermal dysplasia 7, hair/nail type
Hypotrichosis 3
Woolly hair, autosomal dominant
Pseudofolliculitis barbae
Monilethrix
Ectodermal dysplasia 4, hair-nail type
Knuckle pads
Hydroxykynureninuria
Hydrocephalus due to congenital stenosis of aqueduct of Sylvius
Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome
CRASH syndrome
Corpus callosum, partial agenesis of
Spastic paraplegia-1
L-2-hydroxyglutaric aciduria
Poretti-Boltshauser syndrome
Muscular dystrophy, congenital merosin-deficient, 1A
Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
Cardiomyopathy, dilated, 1JJ
Lissencephaly 5
Pierson syndrome
Nephrotic syndrome, type 5, with or without ocular abnormalities
Amelogenesis imperfecta, type IA
Cortical malformations, occipital
Danon disease
Immunodeficiency due to defect in MAPBP-interacting protein
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Alazami syndrome
Infantile liver failure syndrome 1
Perrault syndrome 4
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Reynolds syndrome
Pelger-Huet anomaly
Greenberg/HEM skeletal dysplasia
Leber congenital amaurosis 5
Lecithin:cholesterol acyltransferase deficiency (Norum disease)
Fish-eye disease
Immunodeficiency 22
Lactase deficiency, congenital
Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
Glycogen storage disease XI
Lactate dehydrogenase B deficiency
Hypercholesterolemia, familial, autosomal recessive
Left-right axis malformations
Buschke-Ollendorff syndrome
Osteopoikilosis
Leptin deficiency
Leptin receptor deficiency
Spondylocostal dysostosis, autosomal recessive 3
Epilepsy, familial temporal lobe, 1
Leydig cell hypoplasia type I
Leydig cell hypoplasia type II
Luteinizing hormone resistance, female
Precocious puberty, male
Deafness, autosomal recessive 67
Pituitary hormone deficiency, combined, 3
Pituitary hormone deficiency, combined, 4
Pyruvate dehydrogensae lipoic acid synthetase deficiency
Stuve-Wiedemann syndrome
LIG4 syndrome
Cataract 19
Muscular dystrophy, limb-girdle, type 2W
Mental retardation, autosomal recessive 27
Cholesterol ester storage disease
Wolman disease
Hepatic lipase deficiency
Abdominal obesity-metabolic syndrome 4
Hypotrichosis 7
Hypertriglyceridemia, familial
Ichthyosis, congenital, autosomal recessive 8
Lipoyltransferase 1 deficiency
Charcot-Marie-Tooth disease, type 1C
Combined factor V and VIII deficiency
Mental retardation, autosomal recessive, 52
Acheiropody
Syndactyly, type IV
Laurin-Sandrow syndrome
Triphalangeal thumb, type I
Polydactyly, preaxial type II
Triphalangeal thumb-polysyndactyly syndrome
Tibial aplasia/hypoplasia
Hypoplastic or aplastic tibia with polydactyly
Methylmalonic aciduria and homocystinuria, cblF type
Combined lipase deficiency
Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
Leukodystrophy, adult-onset, autosomal dominant
Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
Nail-patella syndrome
Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
Vohwinkel syndrome, variant form
Deafness, autosomal recessive 77
Lipoprotein A deficiency, congenital
Hypotrichosis 8
Myoglobinuria, acute, recurrent, autosomal recessive
Majeed syndrome
Lipoprotein lipase deficiency
Combined hyperlipidemia, familial
Hyperlipoproteinemia, type I
Leber congenital amaurosis 14
Retinitis pigmentosa, juvenile
Retinal-dystrophy, early-onset severe
Retinitis punctata albescens
Common variable immunodeficiency 8, with autoimmunity
Urofacial syndrome 2
Night blindness, congenital stationary (complete), 1F, autosomal recessive
Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome
Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
Coronary artery disease, autosomal dominant 2
Myopia 23, autosomal recessive
Leigh syndrome, French-Canadian type
Ciliary dyskinesia, primary 19
Agammaglobulinemia 5
Parkinson disease 8
Dementia, Lewy body
Charcot-Marie-Tooth disease, axonal, type 2P
Deafness, autosomal recessive 63
Cataract 44
Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
Dental anomalies and short stature
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Asthma, aspirin-induced, susceptibility to
Combined oxidative phosphorylation deficiency 19
Mitochondrial complex III deficiency, nuclear type 8
Chediak-Higashi syndrome
Amyloidosis, systemic nonneuropathic
Bardet-Biedl syndrome 17
Schwannomatosis 2
Noonan syndrome 10
Microphthalmia, syndromic 14
Ayme-Gripp syndrome
Multicentric carpotarsal osteolysis
Spastic paraplegia, autosomal recessive 75
Bartter syndrome type 5, antenatal transient
Schaaf-Yang syndrome (Prader-Willi-like syndrome)
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
Retinitis pigmentosa 62
Immunodeficiency 12
Hypospadias 2, X-linked
Mental retardation, autosomal recessive 15
Mannosidosis, alpha B, lysosomal
Mannosidosis, beta A, lysosomal
Brunner syndrome
46,XY sex reversal 6
Primary immunodeficiency with multifaceted aberrant lymphoid immunity
Familial gastric cancer
Epileptic encephalopathy, Lennox-Gastaut type
Diabetes mellitus
Congenital symmetric circumferential skin creases 2
Supranuclear palsy, progressive
Frontotemporal dementia
Parkinson-dementia sydnrome
Pick disease
Interstitial lung and liver disease
Combined oxidative phosphorylation deficiency 25
Deafness, autosomal recessive 49
3MC syndrome 1
MASP2 deficiency
Methionine adenosyltransferase deficiency
Spondyloepimetaphyseal dysplasia, matrilin-3 related
Epiphyseal dysplasia, multiple, 5
Amyotrophic lateral sclerosis 21
Mental retardation, autosomal dominant 1
Mannose-binding protein deficiency
Keratosis follicularis spinulosa decalvans, X-linked
IFAP syndrome with or without BRESHECK syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
Increased analgesia from kappa-opioid receptor agonist, female specific
Glucocorticoid deficiency 1
Obesity, autosomal dominant
3-Methylcrotonyl-CoA carboxylase 1 deficiency
3-Methylcrotonyl-CoA carboxylase 2 deficiency
Methylmalonyl-CoA epimerase deficiency
Factor V & Factor VIII, combined deficiency of
Natural killer cell and glucocorticoid deficiency with DNA repair defect
Lactose intolerance, adult type
Lactase persistence
Premature ovarian failure 10
Ovarian dysgenesis 4
Mucolipidosis IV
Microcephaly, primary autosomal recessive, 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Rett syndrome
Encephalopathy, neonatal severe, due to MECP2 mutations
Autism, X-linked 3
Mental retardation, X-lnked syndromic 13
Mental retardation, X-linked 79
Lujan-Fryns syndrome
Opitz-Kaveggia syndrome
Mental retardation, X-linked, with Marfanoid habitus
FG syndrome
Ohdo syndrome
Transposition of the great arteries, dextro-looped 1
Mental retardation and distinctive facial features with or without cardiac defects
Congenital heart defects and intellectual disability
Intellectual disability, autosomal recessive
Microcephaly, postnatal progressive, with seizures and brain atrophy
Mental retardation, autosomal recessive 18
Basel-Vanagait-Smirin-Yosef syndrome
Charcot-Marie-Tooth disease, axonal, tybe 2B2
Mental retardation, autosomal dominant 20
Familial Mediterranean fever
Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
Carpenter syndrome 2
Multiple endocrine neoplasia type I
Klippel-Feil syndrome 2
Retinitis pigmentosa 38
Spondylocostal dysostosis 2, autosomal recessive
Renal cell carcinoma, papillary
Deafness, autosomal recessive 97
Mental retardation, autosomal recessive 44
Aortic aneurysm, familial thoracic 9
Charcot-Marie-Tooth disease, type 2A2
Hereditary motor and sensory neuropathy VIA
Microphthalmia, isolated 5
Nanophthalmos 2
Microcephaly 15, primary, autosomal recessive
Ceroid lipofuscinosis, neuronal, 7
Congenital disorder of glycosylation, type IIa
Mitochondrial DNA depletion syndrome 11
Keutel syndrome
Left ventricular noncompaction 7
Myopathy with extrapyramidal signs
Opitz GBBB syndrome, type I
Mental retardation, X-linked 101
Cataract 15, multiple types
Feingold syndrome 2
Keratoconus with cataract
Retinal dystrophy and iris coloboma with or without congenital cataract
Deafness, autosomal dominant 50
Waardenburg syndrome, type 2A
Tietz albinism-deafness syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Renal cell carcinoma with or without malignant melanoma
McKusick-Kaufman syndrome
Bardet-Biedl syndrome 6
Central precocious puberty
Meckel syndrome 1
Bardet-Biedl syndrome 13
Megalencephalic leukoencephalopathy with subcortical cysts
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome
Endometrial cancer
Muir-Torre syndrome
Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
Griscelli syndrome, type 3
Malonyl-CoA decarboxylase deficiency
Methylmalonic acidemia, cblA type
Methylmalonic acidemia, cblB type
Methylmalonic aciduria and homocystinuria, cblC type
Methylmalonic aciduria and homocystinuria, cblD type
Metaphyseal anadysplasia 1
Metaphyseal dysplasia, Spahr type
Spondyloepimetaphyseal dysplasia, Missouri type
Winchester syndrome
Cavitary optic disc anomalies
Torg-Winchester syndrome
Multicentric osteolysis, nodulosis, and arthropathy
Amelogenesis imperfecta, hypomaturation type, IIA2
Heterotaxy, visceral, 7
Metaphyseal anadysplasia 2
Meningioma, familial
Currarino syndrome
Molybdenum cofactor deficiency, type A
Molybdenum cofactor deficiency, type B
Narcolepsy 7
Congenital disorder of glycosylation, type IIb
Charcot-Marie-Tooth disease type, axonal, type 2Z
Mitochondrial pyruvate carrier deficiency
Congenital disorder of glycosylation, type If
Hydrocephalus, nonsyndromic, autosomal recessive 2
Congenital disorder of glycosylation, type Ib
Thrombocythemia 2
Amegakaryocytic thrombocytopenia
Trichothiodystrophy 4, nonphotosensitive
Myeloperoxidase deficiency
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Charcot-Marie-Tooth disease, dominant intermediate 3
Charcot-Marie-Tooth disease, axonal, type 2J
Charcot-Marie-Tooth disease, axonal, type 2I
Neuropathy, congenital hypomyelinating
Roussy-Levy syndrome
Charcot-Marie-Tooth disease, type 1B
Paroxysmal nonkinesigenic dyskinesia
Glucocorticoid deficiency 2
Combined oxidative phosphorylation deficiency 9
Mitochondrial cardiomyopathy, autosomal recessive
Combined oxidative phosphorylation deficiency 2
Combined oxidative phosphorylation deficiency 5
Immunodeficiency, common variable, 5
Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis type 5
Microcephaly, congenital cataract, and psoriasiform dermatitis
Barrett esophagus/esophageal adenocarcinoma
Prostate cancer
Deafness, autosomal recessive 74
Muscle hypertrophy
Orofacial cleft 5
Tooth agenesis, selective, 1, with/without orofacial cleft
Witkop syndrome
Craniosynostosis, type 2
Parietal foramina with cleidocranial dysplasia
Parietal foramina 1
Myopathy, lactic acidosis, and sideroblastic anemia 3
Brain pseudoatrophy, reversible, valproate-induced, susceptibility to
Deafness, mitochondrial
Cytochrome c oxidase deficiency
Leber optic atrophy and dystonia
Myoclonic epilepsy with ragged red fibers
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
Oncocytoma
Chloramphenicol toxicity/resistance
Diabetes-deafness syndrome
Mitochondrial myopathy, infantile, transient
Mitochondrial myopathy with diabetes
Nephropathy, tubulointerstitial
Encephalopathy, mitochondrial
Epilepsy, mitochondrial
Myopathy, mitochondrial
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
Deafness
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Combined oxidative phosphorylation deficiency 15
Severe combined immunodeficiency
Homocystinuria due to MTHFR deficiency
Myopathy, centronuclear, X-linked
Charcot-Marie-Tooth disease, type 4B1
Combined oxidative phosphorylation deficiency 10
Smith-Kingsmore syndrome
Spastic ataxia 4, autosomal recessive
Methylmalonic acidemia, cblG type
Homocystinuria-megaloblastic anemia, cobalamin E type
Abetalipoproteinemia
Medullary cystic kidney disease 1
Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
Porokeratosis 7
Mevalonic aciduria
Hyper-IgD syndrome
Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated, 1MM
Left ventricular noncompaction 10
Feingold syndrome
MYD88 deficiency
Myopathy, centronuclear, 3
Aortic aneurysm, familial thoracic 4
Deafness, autosomal dominant 4
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Inclusion body myopathy 3
Arthrogryposis, distal, type 2A
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 8
Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
Cardiomyopathy, dilated, 1S
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
Carney complex variant
Arthrogryposis, distal, type 7
Trismus-pseudocamptodactyly syndrome
Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
Cardiomyopathy, familial hypertrophic, 10
Cardiomyopathy, familial hypertrophic, 8
Aortic aneurysm, familial thoracic 7
Cardiomyopathy, hypertrophic
Deafness, autosomal recessive 3
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
Deafness, autosomal dominant 48
Focal segmental glomerulosclerosis 6
Deafness, autosomal recessive 30
Griscelli syndrome, type 1
Diarrhea 2, with microvillus atrophy
Deafness, autosomal recessive 37
Deafness, autosomal recessive 2
Usher syndrome, type 1B
Glaucoma, primary open angle
Myopathy, myofibrillar, 3
Cardiomyopathy, familial hypertrophic, 16
Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
Mental retardation, autosomal dominant 39
N-terminal acetyltransferase deficiency (Ogden syndrome)
Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
N-acetylglutamate synthase deficiency
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Spermatogenic failure 12
Combined oxidative phosphorylation deficiency 24
Acetylation, NAT1-related
Acetylation, NAT2-related
N-acetylaspartate deficiency
Infantile liver failure syndrome 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Gray platelet syndrome
Nijmegen breakage syndrome
Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
Acne inversa, familial 1
Lissencephaly 4
Microhydranencephaly
Norrie disease
Exudative vitreoretinopathy, 2, X-linked
Charcot-Marie-Tooth disease, type 4D
Mental retardation, autosomal recessive 46
Thyroid carcinoma, Hurthle cell
Linear skin defects with multiple congenital anomalies 3
Nemaline myopathy 2
Epileptic encephalopathy, early infantile 21
Cleft lip/palate-ectodermal dysplasia syndrome
Ectodermal dysplasia-syndactyly syndrome
Charcot-Marie-Tooth disease, axonal, type 2CC
Charcot-Marie-Tooth disease, axonal, type 2E
Short-rib thoracic dysplasia 6 with or without polydactyly
Retinitis pigmentosa 67
Nephronophthisis 9
Sialidosis, type I
Sialidosis, type II
Maturity onset diabetes of the young 6
Diarrhea 4, malabsorptive, congenital
Cardiomyopathy, familial hypertrophic, 20
Cardiomyopathy, dilated, 1CC
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
Watson syndrome
Neurofibromatosis type II
Marshall-Smithsyndrome
Sotos syndrome 2
Immunodeficiency, common variable, 12
Immunodeficiency, common variable, 10
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
Multiple mitochondrial dysfunctions syndrome 1
Neuropathy, hereditary sensory and autonomic, type V
Congenital disorder of deglycosylation
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Epilepsy, progressive myoclonic 2B (Lafora)
Dyskeratosis congenita, autosomal recessive 2
Nance-Horan syndrome
Cataract 40
Seckel syndrome 7
Spastic paraplegia 6
Ichthyosis, congenital, autosomal recessive
Cornelia de Lange syndrome 1
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Thyroid cancer, nonmedullary 1
Atrial septal defect 7, with or without AV conduction defects
Conotruncal heart malformations
Hypothyroidism, congenital nongoitrous, 5
Persistent truncus arteriosus
Spondylo-megaepiphyseal-metaphyseal dysplasia
Asperger syndrome, X-linked 1
Autism, X-linked 1
Asperger syndrome, X-linked 2
Autism, X-linked 2
Mental retardation, X-linked
Autoinflammation with infantile enterocolitis (AIFEC)
Familial cold autoinflammatory syndrome 4
Corneal intraepithelial dyskeratosis and ectodermal dysplasia
Familial cold autoinflammatory syndrome 2
Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Muckle-Wells syndrome
Hydatidiform mole, recurrent, 1
Ciliary dyskinesia, primary, 6
Glucocorticoid deficiency 4
Premature ovarian failure 5
Blau syndrome
Sarcoidosis, early-onset
Heterotaxy, visceral, 5
Brachydactyly, type B2
Tarsal-carpal coalition syndrome
Multiple synostosis syndrome 1
Symphalangism, proximal
Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
Myoclonus, familial cortical
Mental retardation, X-linked, syndrome 34
Dyskeratosis congenita, autosomal recessive 1
Spinocerebellar ataxia 36
Aortic valve disease
Alagille syndrome 2
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
Nodular lymphocyte predominant Hodgkin lymphoma, familial
Niemann-Pick disease, type C1
Niemann-Pick disease, type D
Ezetimibe, nonresponse to
Niemann-pick disease, type C2
Joubert syndrome 4
Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis 3
Meckel syndrome 7
Renal-hepatic-pancreatic dysplasia
Nephronophthisis 4
Senior-Loken syndrome 4
Nephrotic syndrome, type 1
Nephrotic syndrome, type 2
Atrial fibrillation, familial, 6
Atrial standstill 2
Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
Adrenal hypoplasia, congenital
46,XY sex reversal 2
Enhanced S-cone syndrome
Retinitis pigmentosa 37
Bosch-Boonstra optic atrophy syndrome
Congenital heart defects 4
Glucocorticoid resistance
Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
Adrenocortical insufficiency
46, XY sex reversal, 3
Premature ovarian failure 7
Autoimmune lymphoproliferative syndrome type IV
Noonan syndrome 6
Retinitis pigmentosa 27
Clumped pigmentary retinal degeneration
Schizophrenia 17
Pitt-Hopkins-like syndrome 2
Sotos syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
Hypogonadotropic hypogonadism 9 with or without anosmia
Spastic paraplegia 45
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Calcification of joints and arteries
Glaucoma 1, open angle, O
Familial adenomatous polyposis 3
Insensitivity to pain, congenital, with anhidrosis
Obesity, hyperphagia, and developmental delay
Nucleoside diphosphate-linked moiety X motif 15 deficiency
Nephrotic syndrome, type 11
Atrial fibrillation 15
Nephrotic syndrome, type 13
Striatonigral degeneration, infantile
Familial heart block and focal segmental glomerulosclerosis
Night blindness, congenital stationary, type 1A
Gyrate atrophy of choroid and retina
Three M syndrome 2
Albinism, oculocutaneous, type II
Albinism, brown oculocutaneous
Band-like calcification with simplified gyration and polymicrogyria
Dent disease 2
Lowe syndrome
Amelogenesis imperfecta, hypomaturation type, IIA4
Orofaciodigital syndrome 1
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
Glaucoma, normal tension, susceptibility to
3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
5-oxoprolinase deficiency
Colorblindness, partial, protan series
Blue cone monochromacy
Red cone polymorphism
Colorblindness, partial, deutan series
Cone dystrophy 5, X-linked
Tritanopia
Glaucoma 1, open angle, E
Immunodeficiency 9
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Deafness, autosomal dominant 67
Amyloidosis, primary localized cutaneous, 1
Osteopetrosis, autosomal recessive 5
Ornithine transcarbamylase deficiency
Deafness, autosomal recessive 22
Deafness, autosomal recessive 9
Neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 18B
Deafness, autosomal recessive 84B
Pituitary hormone deficiency, combined 6
Microphthalmia, syndromic 5
Retinal dystrophy, early-onset, and pituitary dysfunction
Corneal dystrophy, posterior polymorphous, 1
Succinyl CoA:3-oxoacid CoA transferase deficiency
Deafness, autosomal dominant 41
Bleeding disorder, platelet-type, 8
Osteogenesis imperfecta, type VIII
Myopia, high, with cataract and vitreoretinal degeneration
Cole Carpenter syndrome 1
Oculopharyngeal muscular dystrophy
Mental retardation, autosomal dominant 17
Lissencephaly 1
Subcortical laminar heterotopia
Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
Mental retardation, X-linked 30
Pancreatic cancer, susceptibility to 3
Fanconi anemia, complementation group N
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
Brachyolmia 4 with mild epiphyseal and metaphyseal changes
Parkinson disease 2, autosomal recessive juvenile
Parkinson disease 7, autosomal recessive early-onset
Pulmonary fibrosis and/or bone marrow failure, telomere-related 4
Dyskeratosis congenita, autosomal recessive 6
Otofaciocervical syndrome 2
Isolated renal hypoplasia
Papillorenal syndrome
Waardenburg syndrome, type 1
Waardenburg syndrome, type 3
Craniofacial-deafness-hand syndrome
Pre-B cell acute lymphoblastic leukemia
Cataract with late-onset corneal dystrophy
Aniridia
Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome)
Optic nerve hypoplasia
Keratitis
Foveal hypoplasia 1
Morning glory disc anomaly
Hypothyroidism, congenital, nongoitrous 2
Tooth agenesis, selective, 3
Clear cell renal cell carcinoma
Pyruvate carboxylase deficiency
Hyperphenylalaninemia, BH4-deficient, D
Propionic acidemia
Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
Epileptic encephalopathy, early infantile, 9
Ataxia-telangiectasia-like disorder 2
Microcephalic osteodysplastic primordial dwarfism, type II
Proprotein convertase 1/3 deficiency
Hypercholesterolemia, familial, 3
Spondylometaphyseal dysplasia with cone-rod dystrophy
Cerebral cavernous malformations 3
Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
Pigmented nodular adrenocortical disease, primary, 2
Hypertension with brachydactyly
Acrodysostosis 2, with or without hormone resistance
Retinitis pigmentosa 43
Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
Cone dystrophy 4
Joubert syndrome 22
Retinitis pigmentosa 57
Achromatopsia 6
Retinal cone dystrophy 3A
Pigmented nodular adrenocortical disease, primary, 3
Basal ganglia calcification, idiopathic, 4
Kosaki overgrowth syndrome
Myofibromatosis, infantile 1
Premature aging syndrome, Penttinen type
Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
Pyruvate dehydrogensae E1-beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Charcot-Marie-Tooth disease, X-linked
Pyruvate dehydrogenase phosphatase deficiency
Coenzyme Q10 deficiency 2
Coenzyme Q10 deficiency 3
Pancreatic agenesis 1
Neonatal diabetes mellitus
Spinocerebellar ataxia 23
Prolidase deficiency
Advanced sleep phase syndrome, familial
Advanced sleep phase syndrome, familial, 3
Heimler syndrome 1
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis factor disorder 10
Adrenoleukodystrophy, neonatal
Zellweger syndrome
Ataxia, autosomal recessive
Peroxisome biogenesis factor disorder 14B
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis factor disorder 3B
Peroxisome biogenesis factor disorder 13
Peroxisome biogenesis factor disorder 14
Peroxisome biogenesis factor disorder 16
Peroxisome biogenesis disorder, 19
Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis factor disorder, 26
Refsum disease, infantile
Peroxisome biogenesis factor disorder 3
Zellwegger syndrome complementation group G
Peroxisome biogenesis disorder, 5
Rhizomelic chondrodysplasia punctata, type 5
Heimler syndrome 2
Refsum disease
Glycogen storage disease VII
Amyotrophic lateral sclerosis 18
Glycogen storage disease X
Mental retardation, autosomal recessive 42
Hyperphosphatasia with mental retardation syndrome 3
Hyperphosphatasia with mental retardation syndrome 4
Phosphoglycerate kinase 1 deficiency
Congenital disorder of glycosylation, type It
Immunodeficiency 23
Primary microcephaly 11
Hypophosphatemic rickets, X-linked dominant
Borjeson-Forssman-Lehmann syndrome
Mental retardation syndrome, X-linked, Siderius type
Phosphoglycerate dehydrogenase deficiency
Glycogen storage disease, type Ixd
Glycogen storage disease, type IXa1/Glycogen storage disease, type IXa2 (Phosphorylase kinase deficiency)
Glycogen storage disease IXb
Glycogen storage disease IXc
Fibrosis of extraocular muscles, congenital, 2
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
Phosphohydroxylysinuria
Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Mental retardation, autosomal recessive 53
CHIME syndrome
Glycosylphosphatidylinositol deficiency
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Hyperphosphatasia with mental retardation syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Hyperphosphatasia with mental retardation syndrome 1
Hyperphosphatasia with mental retardation syndrome 5
Hyperphosphatasia with mental retardation syndrome 6
Cowden syndrome 5
Immunodeficiency 14
Agammaglobulinemia 7, autosomal recessive
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Ataxia-oculomotor apraxia 3
Corneal fleck dystrophy
Parkinson disease 6, autosomal recessive, early onset
Lethal congenital contractural syndrome 3
Cone-rod dystrophy 5
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
Axenfeld-Rieger syndrome, type 1
Ring dermoid of cornea
Iridogoniodysgenesis, type 2
Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar 4, syndromic
Polycystic kidney disease, adult type I
Polycystic kidney disease 2
Polycystic kidney disease, autosomal recessive
Pyruvate kinase deficiency
Ectodermal dysplasia/skin fragility syndrome
Arrhythmogenic right ventricular dysplasia, familial 9
Phospholipase A2, group IV A, deficiency of
Fleck retina, familial benign
Parkinson disease 14, autosomal recessive
Neurodegeneration with brain iron accumulation 2A
Neurodegeneration with brain iron accumulation 2B
Platelet-activating factor acetylhydrolase deficiency
Diabetes mellitus, transient neonatal
Quebec platelet disorder
Epileptic encephalopathy, early infantile, 12
Auriculocondylar syndrome 2
Nail disorder, nonsyndromic congenital, 3
Nephrotic syndrome, type 3
Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
Leukodystrophy and acquired microcephaly with or without dystonia
Charcot-Marie-Tooth disease C, recessive intermediate
Spinal muscular atrophy, distal, autosomal recessive, 4
Osteopetrosis, autosomal recessive 6
Plasminogen deficiency, type I
Lipodystrophy, familial partial, type 4
Microcephaly and chorioretinopathy, autosomal recessive 2
Cardiomyopathy, dilated, 1P
Cardiomyopathy, familial hypertrophic, 18
Ehlers-Danlos syndrome type VI
Bruck syndrome 2
Bone fragility with contractures, arterial rupture, and deafness
Spastic paraplegia-2
Pelizaeus-Merzbacher disease
Osteoporosis and osteoporotic fractures
Congenital disorder of glycosylation, type Ia
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Neuropathy, inflammatory demyelinating
Spinocerebellar ataxia, autosomal recessive 2
Colorectal cancer, hereditary nonpolyposis type 4
Porokeratosis 1
Ataxia-oculomotor apraxia-4
Epileptic encephalopathy, early infantile, 10
Purine nucleoside phosphorylase deficiency
Ichthyosis, congenital, autosomal recessive 10
Neutral lipid storage disease with myopathy
Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
Mitochondrial myopathy with lactic acidosis
Individuals may manifest with severe seizures starting in the immediate neonatal period (or even before birth), and medical treatment (with pyridoxine) can be effective as an antiepileptic agent
Deafness, autosomal recessive 70
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT syndrome)
Cone-rod dystrophy 20
Premature ovarian failure 2B
Dowling-Degos disease 2
Dowling-Degos disease 4
Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
Colorectal cancer, susceptibility to, 10
Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4B
Sensory ataxia, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4A (Alpers type)
Alpers syndrome
POLG-related ataxia neuropathy spectrum disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Xeroderma pigmentosum, variant type
Acrofacial dysostosis, Cincinnati type
Treacher Collins syndrome 3
Treacher Collins syndrome 2
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Proopiomelanocortin deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A, 12
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type C, 12
Muscle-eye brain disease
Walker-Warburg syndrome
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Clopidogrel treatment, sensitivity to
Antley-Bixler syndrome
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Focal dermal hypoplasia
Alpha-2-macroglobulin deficiency
Glioma susceptibility 9
Melanoma, cutaneous malignant, susceptibility to 10
Pituitary hormone deficiency, combined 1
Deafness, X-linked 2
Deafness, autosomal dominant 15
Wilms tumor 5
Lipodystrophy, familial, partial, type 3
Insulin resistance, severe, digenic
Osteogenesis imperfecta, type IX
Maple syrup urine disease, mild variant
Porphyria variegata
Microcephaly, short stature, and impaired glucose metabolism 2
Mental retardation, autosomal dominant 36
Spinocerebellar ataxia 12
Mental retardation, autosomal dominant 35
Ceroid lipofuscinosis, neuronal, 1
Renpenning syndrome
Retinitis pigmentosa 36
Neuropathy, hereditary sensory and autonomic, type VIII
Cardiomyopathy, dilated, ILL
Left ventricular noncompaction 8
Brittle cornea syndrome 2
Epilepsy, progressive myoclonic, 10
Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Epilepsy, progressive myoclonic, 1B
Epilepsy, progessive myoclonic 5
Myopia 22, autosomal dominant
Primary pigmented nodular adrenocortical disease 4
Bleeding disorder, platelet-type, 19
Cardiomyopathy, familial hypertrophic 6
Wolff-Parkinson-White syndrome
Increased glyogen content in skeletal muscle
Pigmented nodular adrenocortical disease, primary, 1
Carney complex, type 1
Myxoma, intracardiac
Acrodysostosis 1, with or without hormone resistance
Autoimmune lymphoproliferative syndrome type III
Spinocerebellar ataxia 14
Polycystic liver disease
Immunodeficiency 26 with or without neurologic abnormalities
Aortic aneurysm, familial thoracic 8
Dystonia 16
Hyperprolactinemia
Multiple fibroadenomas of the breast
Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Thrombophilia, hereditary, due to protein C deficiency
Hyperprolinemia, type I
Hypogonadotropic hypogonadism 4 with or without anosmia
Hypogonadotropic hypogonadism 3 with or without anosmia
Cone-rod dystrophy 12
Macular dystrophy, retinal, 2
Stargardt disease 4
Retinitis pigmentosa 41
Pituitary hormone deficiency, combined, 2
Thrombophilia, hereditary, due to protein S deficiency
Protein Z deficiency
Retinitis pigmentosa 18
Retinitis pigmentosa 11
Retinitis pigmentosa 70
Retinitis pigmentosa 60
Retinitis pigmentosa 13
Choriodal dystrophy, central areolar 2
Macular dystrophy, vitelliform 3
Macula dystrophy, patterned 1
Retinitis pigmentosa 7
Arts syndrome
Deafness, X-linked 1
Phosphoribosylpyrophosphate synthetase I superactivity
Episodic kinesigenic dyskinesia 1
Agnathia-otocephaly complex
Pancreatitis, hereditary
Mental retardation, autosomal recessive 1
Microphthalmia, isolated 6
Charcot-Marie-Tooth disease, type 4F
Krabbe disease, atypical
Combined saposin deficiency
Gaucher disease, atypical, due to saposin C deficiency
Metachromatic leukodystrophy due to saposin-b deficiency
Phosphoserine aminotransferase deficiency
Cardiomyopathy, dilated 1U
Cardiomyopathy, dilated, 1V
Peripartum/pregnancy-associated cardiomyopathy
Acne inversa, familial, 2
Nakajo-Nishimura syndrome
Autoinflammation, lipodystrophy, and dermatosis syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
Ovarian dysgenesis 3
Phosphoserine phosphatase deficiency
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
Basal cell nevus syndrome
Autism susceptibility, X-linked 4
Lenz-Majewski hyperostotic dwarfism
PTEN hamartoma tumor syndrome
Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome
Lhermitte-Duclos syndrome
Glioma susceptibility 2
Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
Brachydactyly, type E2
LEOPARD syndrome 1
Choanal atresia and lymphedema
Breasts and/or nipples, aplasia or hypoplasia of, 2
Nephrotic syndrome, type 6
Deafness, autosomal recessive 84
Lipodystrophy, congenital generalized, type 4
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD)
Hyperphenylalaninemia, BH4-deficient, A
Mental retardation, autosomal dominant 31
Myopathy, lactic acidosis, and sideroblastic anemia 1
Corneal opacification with other ocular anomalies
Cutis laxa, autosomal recessive, type IIB
Cutis laxa, autosomal recessive type IIIB
Leukodystrophy, hypomyelinating 10
Glycogen storage disease VI
Glycogen storage disease V
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Hyperphenylalaninemia, BH4-deficient, C
Warburg micro syndrome 3
Carpenter syndrome 1
Griscelli syndrome, type 2
Elejalde syndrome
Cone-rod dystrophy 18
Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia 2
Mental retardation, X-linked 72
Waisman parkinsonism-mental retardation syndrome
Warburg micro syndrome 1
Warburg micro syndrome 2
Martsolf syndrome
Charcot-Marie-Tooth disease, axonal, type 2B
Neutrophil immunodeficiency syndrome
Cornelia de Lange syndrome 4
Mirror movements 2
Fanconi anemia goup O
Ovarian cancer, familial, susceptibility to
Cardiomyopathy, dilated, 1NN
LEOPARD syndrome 2
Noonan syndrome 5
T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Combined cellular and humoral immune defects with granulomas
Smith-Magenis syndrome
Encephalopathy, acute, infection-induced, 3, susceptibility to
Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
Microphthalmia, syndromic 12
Leukodystrophy, hypomyelinating 9
Pontocerebellar hypoplasia, type 6
Capillary malformation-arteriovenous malformation
Parkes Weber syndrome
Spinal arteriovenous anomalies
Bleeding disorder, platelet-type, 18
Microphthalmia, isolated 3
Cone-rod dystrophy 11
Retinoblastoma
Seckel syndrome 2
Jawad syndrome
Polyglucosan body myopathy 1
TARP syndrome
Cardiomyopathy, dilated, 1DD
Alopecia, neurologic defects, and endocrinopathy syndrome
Mental retardation, X-linked, syndromic 11, Shashi type
Retinitis pigmentosa 66
Retinol dystrophy, iris coloboma, and comedogenic acne syndrome
Adams-Oliver syndrome 3
Leber congenital amaurosis 12
Microphthalmia, isolated, with coloboma 10
Retinal dystrophy, juvenile cataracts, and short stature syndrome
Leber congenital amaurosis 13
Retinitis pigmentosa 53
Fundus albipunctatus
Deafness, autosomal recessive 24
Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
Spastic paraplegia 31
Distal hereditary motor neuronopathy VB
Spastic paraplegia 72
Epilepsy, familial temporal lobe, 7
Lissencephaly 2
Hyperuricemic nephropathy, familial juvenile 2
Wilms tumor 6, susceptibility to
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Hirschsprung disease, susceptibility to 1
Congenital disorder of glycosylation, type In
Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
Martinez-Frias syndrome
Mitchell-Riley syndrome
MHC class II deficiency
Retinitis pigmentosa 44
Bradyopsia
Overhydrated hereditary stomatocytosis
Anemia, hemolytic, Rh-null, regulator type
Anemia, hemolytic,Rh-Mod type
RHAG blood group
Tylosis with esophageal cancer
Rhesus blood group
Retinitis pigmentosa 4
Night blindness, congenital stationary, autosomal dominant 1
Cone-rod dystrophy 7
Macrocephaly, alopecia, cutis laxa, and scoliosis
Popliteal pterygium syndrome, lethal type
Bartsocas-Papas syndrome
Spondylocostal dysostosis, autosomal recessive 6
Noonan syndrome 8
Newfoundland rod-cone dystrophy
Bothnia retinal dystrophy
Combined oxidative phosphorylation deficiency 11
Anauxetic dysplasia
Cartilage-hair hypoplasia
Metaphyseal dysplasia without hypotrichosis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Prostate cancer, hereditary, 1
Leukoencephalopathy, cystic, without megalencephaly
Trichothiodystrophy 5, nonphotosensitive
Tenorio syndrome
Macrocephaly, macrosomia, facial dysmorphism syndrome
Renal cell carcinoma, clear cell
RIDDLE syndrome
Moyamoya disease 2
Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)
Roifman syndrome
Congenital anomalies of the kidney and urinary tract
Gaze palsy, horizontal, with progressive scoliosis
Kohlschutter-Tonz syndrome
Retinitis pigmentosa 7, digenic
Robinow syndrome, autosomal recessive
Brachydactyly, type B1
Immunodeficiency 42
Retinitis pigmentosa 1, autosomal dominant
Retinitis pigmentosa 1, autosomal recessive
Occult macular dystrophy
Retinitis pigmentosa 2
Retinitis pigmentosa 9
Retinitis pigmentosa 20
Leber congenital amaurosis 2
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Leber congenital amaurosis 6
Cone-rod dystrophy 13
Meckel syndrome 5
Joubert syndrome 7
Retinal degeneration in ciliopathy, modifier of
Ribose 5-phosphate isomerase deficiency
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 12
Hypotrichosis 12
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 9
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 13
Coffin-Lowry syndrome
Mental retardation, X-linked 19
Diamond-Blackfan anemia 8
Asplenia, isolated congenital
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
Retinoschisis 1, X-linked, juvenile
Ciliary dyskinesia, primary, 24
Ciliary dyskinesia, primary, 32
Ciliary dyskinesia, primary, 11
Ciliary dyskinesia, primary, 12
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
Anonychia/hyponychia congenita
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
Spastic paraplegia 12, autosomal dominant
Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Microcephaly, short stature, and polymicrogyria with or without seizures
Platelet disorder, familial, with associated myeloid malignancy
Cleidocranial dysplasia
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
Deafness, autosomal recessive 68
Spastic ataxia, Charlevoix-Saguenay type
Retinitis pigmentosa 47
Oguchi disease 1
Townes-Brocks syndrome
Ocular coloboma
Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
Tumoral calcinosis, normophosphatemic
Aicardi-Goutieres syndrome 5
Chylomicron retention disease (Anderson disease)
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Porokeratosis, disseminated superficial actinic, 1
Microcephaly 14, primary, autosomal recessive
Episodic pain syndrome, familial, 3
Shwachman-Diamond syndrome
Aplastic anemia
Charcot-Marie-Tooth disease, type 4B3
Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
Lathosterolosis
Epilepsy, progressive myoclonic 4, with or without renal failure
Van den Ende-Gupta syndrome
Migraine, familial hemiplegic 3
Atrial fibrillation, familial 13
Brugada syndrome 5
Epileptic encephalopathy, early infantile, 11
Seizures, benign familial infantile, 3
Atrial fibrillation, familial 14
Brugada syndrome 7
Atrial fibrillation, familial 16
Paramyotonia congenita
Hyperkalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Normokalemic potassium-sensitive periodic paralysis
Malignant hyperthermia, susceptibility to
Myasthenic syndrome, congenital, 16
Myotonia, potassium-aggravated
Long QT syndrome 10
Atrial fibrilliation, familial 17
Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
Paroxysmal extreme pain disorder
Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
Myopia 6
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
Leukoencephalopathy with dystonia and motor neuropathy
Spinocerebellar ataxia, autosomal recessive 21
Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Mitochondrial complex II deficiency
Paragangliomas 2
Cowden-like syndrome
Paraganglioma and gastric stromal sarcoma
Paragangliomas 4
Paragangliomas 3
Cowden syndrome 3
Paragangliomas 1
Carcinoid tumors, intestinal
Craniolenticulosutural dysplasia
Cowden syndrome 7
Anemia, dyserythropoietic congenital, type II
Selenoprotein deficiency
Hypogonadotropic hypogonadism 16 with or without anosmia
Cone-rod dystrophy 10
Retinitis pigmentosa 35
Blood group, John Milton Hagen
Muscular dystrophy, rigid spine, 1
Myopathy, congenital, with fiber-type disproportion
Pontocerebellar hypoplasia, type 2D
Spermatogenic failure 10
Amyotrophy, hereditary neuralgic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Alpha-1-Antitrypsin deficiency
Corticosteroid-binding globulin deficiency
Thyroxine-binding globulin deficiency
Thyroxine-binding globulin excess
Deafness, autosomal recessive 91
Palmoplantar keratoderma, Nagashima type
Antithrombin III deficiency
Heparin cofactor II deficiency
Plasminogen activator inhibitor-1 deficiency
Osteogenesis imperfecta, type VI
Alpha-2-plasmin inhibitor deficiency
Angioedema, hereditary
Osteogenesis imperfecta, type X
Encephalopathy, familial, with neuroserpin inclusion bodies
Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
Luscan-Lumish syndrome
Mental retardation, autosomal dominant 23
Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
Acrofacial dysostosis 1, Nager type
Pulmonary fibrosis, idiopathic
Surfactant metabolism dysfunction, pulmonary 1
Surfactant metabolism dysfunction, pulmonary, 2
Combined oxidative phosphorylation deficiency 18
Muscular dystrophy, limb-girdle, type 2D
Muscular dystrophy, limb-girdle, type 2E
Cardiomyopathy, dilated, 1L
Muscular dystrophy, limb-girdle, type 2F
Dystonia 11, myoclonic
Muscular dystrophy, limb-girdle, type 2C
Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A)
Lymphoproliferative syndrome, X-linked
Cherubism
Frank-ter Haar syndrome
Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
Autism, susceptibility to 17
Phelan-McDermid syndrome
Holoprosencephaly 3
Microphthalmia with coloboma 5
Noonan-like syndrome with loose anagen hair
Langer mesomelic dysplasia
Leri-Weill dyschondrosteosis
Short stature, idiopathic familial
Stocco dos Santos X-linked mental retardation syndrome
Sucrase-isomaltase deficiency, congenital
Amyotrophic lateral sclerosis 16, juvenile
Frontotemporal lobar degeneration-motor neuron disease
Spinal muscular atrophy, distal, autosomal recessive, 2
Epileptic encephalopathy, early infantile 30
Marinesco-Sjogren syndrome
Cataract 45
Deafness, autosomal dominant 23
Branchiootorenal syndrome 3
Branchiootic syndrome 3
Branchiootorenal syndrome 2
Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
Trichohepatoenteric syndrome 2
Bile acid malabsorption, primary
Anemia, hypochromic microcytic, with iron overload
Bartter syndrome, antenatal, type 1
Gitelman syndrome
Epileptic encephalopathy, early infantile, 34
Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
Epileptic encephalopathy, early infantile 25
Blood group, Kidd
Hyperinsulinemic hypoglycemia, familial, 7
Erythrocyte lactate transporter defect
Monocarboxylate transporter 1 deficiency (AR)
Cataract, juvenile, with microcornea and glucosuria
Allan-Herndon-Dudley syndrome
Infantile sialic acid storage disorder
Sialuria, Finnish type (Salla disease)
Deafness, autosomal dominant 25
Porokeratosis, disseminated superficial actinic, 8
Thiamine-responsive megaloblastic anemia syndrome
Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine responsive)
Dicarboxylic aminoaciduria
Episodic ataxia, type 6
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Basal ganglia calcification, idiopathic, 1
Hypouricemia, renal 1
Carnitine deficiency, systemic primary
Night blindness, congenital stationary, type 1D
Ameliogenesis imperfecta, hypomaturation type, IIA5
Combined D-2- and L-2-hydroxyglutaric aciduria
Hypomyelination, global cerebral
Citrin deficiency
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
Carnitine-acylcarnitine translocase deficiency
Epileptic encephalopathy, early infantile, 3
Combined oxidative phosphorylation deficiency 28
Micochondrial phosphate carrier deficiency
Exercise intolerance, riboflavin-responsive
Anemia, sideroblastic 2, pyridoxine-refractory
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)
Neuropathy, hereditary motor and sensory, type VIB
Achondrogenesis, type IB
Atelosteogenesis II
De la Chapelle dysplasia
Diastrophic dysplasia
Epiphyseal dysplasia, multiple, 4
Diarrhea 1, secretory chloride, congenital
Deafness, autosomal recessive 4
Deafness, autosomal recessive 61
Spermatogenic failure 3
Ichthyosis prematurity syndrome
Histiocytosis-lymphadenopathy plus syndrome
GLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 2
Epilepsy, idiopathic generalized, susceptibility to, 12
Stomatin-deficient cryohydrocytosis with neurologic defects
Arterial tortuosity syndrome
Fanconi-Bickel syndrome
Hypouricemia, renal, 2
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Congenital cataracts, hearing loss, and neurodegeneration
Fanconi renotubular syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Pulmonary alveolar microlithiasis
Hypophosphatemic rickets with hypercalciuria, hereditary
Congenital disorder of glycosylation, type IIf
Congenital disorder of glycosylation, type IIm
Arthrogryposis, mental retardation, and seizures
Congenital disorder of glycosylation, type IIc
Leukocyte adhesion deficiency, type II
Schneckenbecken dysplasia
Hyperglycinuria
Iminoglycinuria
Iminoglycinuria, digenic
Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
Foveal hypoplasia 2
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
Acrodermatitis enteropathica
Myopia 24
Congenital disorder of glycosylation, type IIn
Cystinuria
Hemochromatosis, type 4
Nephronophthisis-like ciliopathy
Oculocutaneous albinism, type IV
Skin/hair/eye pigmentation 5
Folate malabsorption, hereditary
Spherocytosis, type 4
Ovalcytosis, Southeast Asian
Cryohydrocytosis
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, autosomal dominant
Blood group, Wright
Blood group, Waldner
Blood group, Diego
Blood group, Froese
Blood group, Swann
Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
Maternal riboflavin deficiency
Brown-Vialetto-Van Laere syndrome 2
Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
Glucose/galactose malabsorption
Renal glucosuria
Thyroid dyshormonogenesis 1
Neuronopathy, distal hereditary motor, type VIIA
Mental retardation, autosomal recessive 48
Hartnup disease
Orthostatic intolerance
Hyperglycinuria/Iminoglycinuria, modifier of
Parkinsonism-dystonia, infantile
Hyperekplexia 3
Creatine deficiency syndrome 1
Retinitis pigmentosa 68
Lysinuric protein intolerance
Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
Mental retardation, X-linked syndromic, Christianson type
Autism susceptibility 16
Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
Hypertrophic osteoarthropathy, primary, autosomal recessive 2
Primary hypertrophic osteoarthropathy
Bleeding disorder, platelet-type, 20
Trichotillomania
Tourette syndrome
Deafness and myopia
Mal de Meleda
Fanconi anemia type P
Aneurysms-osteoarthritis syndrome
Loeys-Dietz syndrome, type 3
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Aortic valve disease 2
Pulmonary hypertension, primary 2
Nicolaides-Baraitser syndrome
Rhabdoid tumor predisposition syndrome 2
Adermatoglyphia
Schimke immunoosseous dysplasia
Schwannomatosis
Rhabdoid tumor predisposition syndrome
Meningioma, familial, susceptibility to
Cornelia de Lange syndrome 2
Heart and brain malformation syndrome
Blood group, Vel system
Spinal muscular atrophy, type I
Spinal muscular atrophy, type II
Spinal muscular atrophy, type III
Spinal muscular atrophy, type IV
Spinal muscular atrophy, modifier of
Microphthalmia with limb anomalies
Dentin dysplasia, type I
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Deafness, X-linked 4
Mental retardation, X-linked, Snyder-Robinson type
Waardenburg syndrome, type 2D
Myasthenic syndrome, congenital 18, with intellectual disability and ataxia
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
Parkinson disease 1
Parkinson disease 4
Dementia with Lewy bodies
Parkinson disease
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Retinitis pigmentosa 33
Hypotrichosis 11
Long QT syndrome 12
Osteopetrosis, autosomal recessive 8
Spinocerebellar ataxia, autosomal recessive 20
Mental retardation, anterior maxillary protrusion, and strabismus
Amyotrophic lateral sclerosis
Keratoconus
Noonan syndrome 4
Noonan syndrome 9
Craniodiaphyseal dysplasia, autosomal dominant
Sclerosteosis 1
van Buchem disease
Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
Mental retardation, autosomal dominant 27
Vesicoureteral reflux 3
Hypotrichosis-lymphedema-telangiectasia syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Microphthalmia, syndromic 3
Panhypopituitarism, X-linked
Lamb-Shaffer syndrome
46, XY sex reversal 10
Campomelic dysplasia
Hepatic venoocclusive disease with immunodeficiency
Osteogenesis imperfecta, type XII
Osteogenesis imperfecta, type XVII
Spastic paraplegia 4, autosomal dominant
Spermatogenic failure 6
Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS)
Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
Centronuclear myopathy 5
Amyotrophic lateral sclerosis 5, juvenile recessive
Charcot-Marie-Tooth disease, axonal, type 2X
Spastic paraplegia 11
Spastic paraplegia 20 (Troyer syndrome)
Spastic paraplegia 21 (Mast syndrome)
Spastic paraplegia 7, autosomal recessive
Netherton syndrome
Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
Dystonia, Dopa-responsive, due to sepiapterin reductase deficiency
Legius syndrome
IgA nephropathy, susceptibility to, 3
Hypogonadotropic hypogonadism 17, with or without anosmia
Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
Epileptic encephalopathy, early infantile, 5
Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type IA
Neuropathy, hereditary sensory and autonomic, type IC
Paget disease of bone 3
Thrombocytopenia, autosomal dominant, 6
Floating-Harbor syndrome
Steroid 5-alpha-reductase 2 deficiency
Kahrizi syndrome
Congenital disorder of glycosylation, type Iq
Bone marrow failure syndrome 1
Rolandic epilepsy, mental retardation, and speech dyspraxia
46,XY disorder of sex development
46, XX disorder of sex development
Congenital disorder of glycosylation, type Iy
Resistance to somatostatin treatment
Ichthyosis, congenital, autosomal recessive 11
Mental retardation, autosomal recessive 12
Epileptic encephalopathy, early infantile, 15
Ganglioside GM3 synthase deficiency
Premature ovarian failure 8
Microcephaly-capillary malformation syndrome
Lipoid adrenal hyperplasia
Immunodeficiency 31A
Immunodeficiency 31B
Immunodeficiency 31C
Immunodeficiency 44
Hyper-IgE recurrent infection syndrome
Autoimmune disease, multisystem, infantile onset
Growth hormone insensitivity with immunodeficiency
Hypochromic microcytic anemia with iron overload 2
Microcephaly, primary autosomal recessive, 7
Stormorken syndrome
Immunodeficiency 10
Peutz-Jeghers syndrome
T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, with or without cardiac malformations
Microphthalmia, syndromic 9
Microphthalmia, isolated, with coloboma 8
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Deafness, autosomal recessive 16
Steroid sulfatase deficiency
Congenital disorder of glycosylation, type Iw
Congenital disorder of glycosylation, type Ix
Spinocerebellar ataxia, autosomal recessive 16
Hemophagocytic lymphohistiocytosis, familial, 4
Generalized epilepsy with febrile seizures plus, type 9
Epileptic encephalopathy, early infantile 4
Hemophagocytic lymphohistiocytosis, familial 5
Mitochondrial DNA depletion syndrome 5
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Glutaric aciduria III
Multiple sulfatase deficiency
Orofacial cleft 10
Sulfocysteinuria
Charcot-Marie-Tooth disease type 4K
Premature ovarian failure 12
Spermatogenic failure 4
Pregnancy loss, recurrent, 4
Epilepsy, X-linked, with variable learning disabilities and behavior disorders
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Deafness, autosomal recessive, 76
Mental retardation, autosomal dominant 5
Mental retardation, X-linked 96
Spinocerebellar ataxia, autosomal recessive 11
Myasthenic syndrome, congenital 7
Epileptic encephalopathy, early infantile, 18
Chordoma
Congenital heart defects, multiple types, 2
Hypogonadotropic hypogonadism
Corneal dystrophy, gelatinous drop-like
Dystonia 3, torsion, X-linked
Mental retardation, X-linked, syndromic 33
Mental retardation, autosomal recessive 40
Spermatogenic failure 13
Transaldolase deficiency
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)
Bare lymphocyte syndrome, type I
Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
Combined oxidative phosphorylation deficiency 21
Thiourea tasting
Phenylthiocarbamide tasting
Tyrosinemia, type II
3-Methylglutaconic aciduria, type II (Barth syndrome)
Warburg micro syndrome 4
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome
Deafness, autosomal recessive 86
Diabetes mellitus, noninsulin-dependent 5
Macrocephaly/megalencephaly syndrome, autosomal recessive
Kenny-Caffey syndrome, type 1
Hypoparathyroidism-retardation-dysmorphism syndrome
Herpes simplex encephalitis
Mental retardation, autosomal dominant 41
Pierpont syndrome
Spinocerebellar ataxia 17
Conotruncal anomaly face syndrome
Cousin syndrome
Congenital anomalies of the kidney and urinary tract 2
Adrenocorticotropic hormone deficiency
Atrial septal defect 4
Cleft palate with or without ankyloglossia
Ulnar-Mammary syndrome
Small patella syndrome
Holt-Oram syndrome
Spondylocostal dysostosis 5
Bleeding disorder, platelet-type 13, susceptibility to
Ghosal hematodiaphyseal syndrome
Cardiomyopathy, dilated, 1N
Cardiomyopathy, familial hypertrophic 25
Muscular dystrophy, limb-girdle, type 2G
Craniosynostosis 3
Agammaglobulinemia 8, autosomal dominant
Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
Osteopetrosis, autosomal recessive 1
Transcobalamin II deficiency
Treacher Collins syndrome 1
Joubert syndrome 13
Joubert syndrome 24
Meckel syndrome 8
Joubert syndrome 18
Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
Forebrain anomalies
Congenital cardiac malformations
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Spinocerebellar ataxia, autosomal recessive 23
Cataract, autosomal recessive congenital 4
Sveinsson choreoretinal atrophy
Spastic paraplegia 49, autosomal recessive
Mental retardation, autosomal recessive 14
Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
Venous malformations, multiple cutaneous and mucosal
Microphthalmia, isolated, with coloboma 9
Tremor, hereditary essential, 5
Dyskeratosis congenita, autosomal dominant
Pulmonary fibrosis and/or bone marrow failure, telomere-related 2
Dyskeratosis congenita, autosomal recessive
Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
Spermatogenic failure, X-linked 2
Atransferrinemia
Branchiooculofacial sydrome
Char syndrome
Patent ductus arteriosus, familial, nonsyndromic
Hereditary motor and sensory neuropathy, proximal type
Spastic paraplegia 57
Hemochromatosis, type 3
Immunodeficiency 46
Thyroid dyshormonogenesis 3
Catel-Manzke syndrome
Camurati-Engelmann disease
Loeys-Dietz syndrome, type 4
Arrhythmogenic right ventricular dysplasia 1
Loeys-Dietz syndrome 5 (Reinhoff syndrome)
Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
Loeys-Dietz syndrome, type 1A
Loeys-Dietz syndrome, type 2A
Loeys-Dietz syndrome, type 2B
Loeys-Dietz syndrome, type 1B
Ichthyosis, congenital, autosomal recessive 1
Peeling skin syndrome 2
Spinocerebellar ataxia 35
Segawa syndrome, autosomal recessive
Dystonia 6, torsion
Thrombophilia due to thrombomodulin defect
Hemolytic uremic syndrome, atypical, susceptibility to, 6
Mental retardation, X-linked 12
Thrombocythemia 1
Hypothyroidism, congenital, nongoitrous, 6
Thyroid hormone resistance, general
Thyroid hormone resistance, selective pituitary
Welander distal myopathy
Herpes simplex encephalitis, susceptibility to, 4
Opticoacoustic nerve atrophy with dementia
Jensen syndrome
Mohr-Tranebjaerg syndrome
Sorsby fundus dystrophy
Dyskeratosis congenita, autosomal dominant 3
Revesz syndrome
Cholestasis, progressive familial intrahepatic 4
Mitochondrial DNA depletion syndrome 2
Preimplantation embryonic lethality
Atrial septal defect 6
Herpes simplex encephalitis, susceptibility to, 2
Deafness, autosomal recessive 7
Epidermodysplasia verruciformis
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Optic atrophy 7
Joubert syndrome 16
Congenital disorder of glycosylation, type IIk
STING-associated vasculopathy, infantile-onsent (SAVI)
Congenital disorder of glycosylation, type IIp
Joubert syndrome 2
Meckel syndrome 2
Joubert syndrome 20
Meckel syndrome 11
Joubert syndrome 14
Spinocerebellar ataxia 21
Osteogenesis imperfecta, type XIV
Arrhythmogenic right ventricular dysplasia 5
Emery-Dreifuss muscular dystrophy 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10
Nephronophthisis 11
Meckel syndrome 3
Joubert syndrome 6
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Nanophthalmos 4
Deafness, autosomal recessive 6
Epsilon-trimethyllysine hydroxylase deficiency
Cardiomyopathy, dilated, 1T
Enterokinase deficiency
Deafness, autosomal recessive 10
Deafness, autosomal recessive 8
Iron-refractory iron deficiency anemia
Deafness, autosomal dominant 56
Autoinflammatory syndrome, familial, Behcet-like
Squamous cell carcinoma, head and neck
Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7
Paget disease of bone 5, juvenile
Immunoglobulin A deficiency 2
Common variable immunodeficiency 2
Immunodeficiency, common variable 4
Periodic fever, familial (TNF receptor-associated periodic syndrome)
Immunodeficiency 16
Osteopetrosis, autosomal recessive 2
Cardiomyopathy, familial hypertrophic 13
Cardiomyopathy, dilated, 1Z
Arthrogryposis multiplex congenita, distal, type 2B
Cardiomyopathy, familial hypertrophic 7
Cardiomyopathy, dilated 1FF
Cardiomyopathy, dilated, 2A
Cardiomyopathy, familial restrictive
Cardiac conduction disease with or without dilated cardiomyopathy
Nemaline myopathy 5
Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, dilated, 1D
Left ventricular noncompaction 6
Cardiomyopathy, familial hypertrophic, 2
Muscular dystrophy, limb-girdle, type 1F
Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Retitinis pigmentosa 31
Dystonia 1, torsion
Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
Split-hand/foot malformation 4
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Limb-mammary syndrome
Rapp-Hodgkin syndrome
Orofacial cleft 8
ADULT syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate
Skin/hair/eye pigmentation, variation in, 10
Triosephosphate isomerase deficiency
Thiamine metabolism dysfunction syndrome 5
Cardiomyopathy, dilated, 1Y
Cardiomyopathy, familial hypertrophic, 3
Nemaline myopathy 4
CAP myopathy
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 2B
Nemaline myopathy 1, autosomal dominant
Thiopurine S-methyltransferase deficiency
Thyroid dyshormonogenesis 2A
Ceroid lipofuscinosis, neuronal, 2
Spinocerebellar ataxia, autosomal recessive 7
Deafness, autosomal recessive 79
T-cell receptor-alpha/beta deficiency
Herpes simplex encephalitis, susceptibility to, 3
Senior-Loken syndrome 9
Candidiasis, familial 8
Seckel syndrome 9
Congenital abnormalities of the kidney and urinary tract
VACTERL association
Limb-girdle muscular dystrophy, type 2S
Spondyloepiphyseal dysplasia tarda, X-linked
Mental retardation, autosomal recessive 13
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease
Early-onset dementia without bone cysts
Chilblain lupus 1
Vasculopathy, retinal, with cerebral leukodystrophy
Aicardi-Goutieres syndrome 1
Thyrotropin-releasing hormone resistance, generalized
Charcot-Marie-Tooth disease, axonal, type 2R
Muscular dystrophy, limb-girdle, type 2H
Bardet-Biedl syndrome 11
Mulibrey nanism
Deafness, autosomal recessive 28
Achondrogenesis, type IA
Spinal muscular atrophy with congenital bone fractures 1 (AR)
Microcephaly, short stature, and impaired glucose metabolism 1
Combined oxidative phosphorylation deficiency 26
Liver failure, infantile, transient
Reversible infantile respiratory chain deficiency
Deafness, nonsyndromic, sensorineural
Hypertension, hypercholesterolemia, and hypomagnesemia (Maternal)
Parkinson disease, mitochondrial
Retinitis pigmentosa-deafness syndrome
Mitochondrial myopathy, lethal
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Episodic pain syndrome, familial
Spinocerebellar ataxia 41
Focal segmental glomerulosclerosis 2
Night blindness, congenital stationary, type 1C
Progressive familial heart block, type IB
Hypomagnesemia 1, intestinal
Trichorhinophalangeal syndrome, type I
Trichorhinophalangeal syndrome, type III
Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
Tuberous sclerosis
Lymphangioleiomyomatosis
Tuberous sclerosis 2
Pontocerebellar hypoplasia type 2B
Pontocerebellar hypoplasia type 2C
Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Combined oxidative phosphorylation deficiency 3
Hypothyroidism, congenital, nongoitrous, 4
Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
Aural atresia, congenital
Exudative vitreoretinopathy 5
Retinal dysplasia and severe familial exudative vitreoretinopathy
Mental retardation, X-linked 58
Deafness, autosomal recessive 98
Sudden infant death with dysgenesis of the testes syndrome
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Spinocerebellar ataxia 11
Mitochondrial complex III deficiency, nuclear type 2
Nephronophthisis 12
Short-rib thoracic dysplasia 4 with or without polydactyly
Trichohepatoenteric syndrome 1
Gastrointestinal defects and immunodeficiency syndrome
Bardet-Biedl syndrome 8
Retinitis pigmentosa 51
Mental retardation, autosomal recessive 39
Cone-rod dystrophy 19
Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
Ataxia with isolated vitamin E deficiency
Amyloidosis, hereditary, transthyretin-related
Dystransthyretinemic hyperthyroxinemia
Retinal dystrophy and obesity
Lissencephaly 3
Amyotrophic lateral sclerosis 22
Polymicrogyria with optic nerve hypoplasia
Congenital symmetric circumferential skin creases 1
Cortical dysplasia, complex, with other brain malformations 6
Macrothrombocytopenia, autosomal dominant, TUBB1-related
Cortical dysplasia, complex, with other brain malformations 5
Polymicrogyria, asymmetric
Cortical dysplasia, complex, with other brain malformations 1
Fibrosis of extraocular muscles, congenital, 3A
Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
Oocyte maturation defect 2
Cortical dysplasia, complex, with other brain malformations 4
Microcephaly and chorioretinopathy, autosomal recessive 3
Microcephaly and chorioretinopathy, autosomal recessive 1
Combined oxidative phosphorylation deficiency 4
Leber congenital amaurosis 15
Retinitis pigmentosa 14
Mental retardation, autosomal recessive 7
Saethre-Chotzen syndrome
Robinow-Sorauf syndrome
Craniosynostosis, type 1
Ablepharon-macrostomia syndrome
Barber-Say syndrome
Focal facial dermal dysplasia 3, Setleis type
Combined oxidative phosphorylation deficiency 29
Burn-McKeown syndrome
Immunodeficiency 35
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Albinism, oculocutaneous, type IA
Albinism, oculocutaneous, type IB
Albinism, oculocutaneous, type III
Spinal muscular atrophy, X-linked 2, infantile
Mental retardation, X-linked, syndromic, Nascimento-type
Fanconi anemia, complementation group T
Angelman syndrome
Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome)
Corneal dystrophy, crystalline, of Schnyder
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Johanson-Blizzard syndrome
Parkinson disease 5, autosomal dominant
Neurodegeneration with optic atropy, childhood-onset
Hip dysplasia, Beukes type
Crigler-Najjar syndrome, type I
Crigler-Najjar syndrome, type II
Gilbert syndrome
Familial juvenile hyperuricemic nephropathy
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Orotic aciduria
Immunodeficiency 13
Hemophagocytic lymphohistiocytosis, familial 3
Cataract 43
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Herpes simplex encephalitis, susceptibility to, 1
Immunodeficiency with hyper-IgM, type 5
Beta-ureidopropionase deficiency
Mental retardation, X-linked, syndromic 14
Renal/urogenital adysplasia
Mitochondrial complex III deficiency, nuclear type 7
Mitochondrial complex III deficiency, nuclear type 9
Mitochondrial complex III deficiency
Mitochondrial Complex III Deficiency, nuclear type 5
Urocanase deficiency
Porphyria, hepatoerythropoietic
Porphyria cutanea tarda
Porphyria, congenital erythropoietic
Poikiloderma with neutropenia
Usher syndrome, type IC
Deafness, autosomal recessive 18A
Usher syndrome, type 1G
Usher syndrome, type 2A
Mental retardation, X-linked 99
Mental retardation, X-linked 99, syndromic, female restricted
Spermatogenic failure, Y-linked, 2
North American Indian childhood cirrhosis
UV-sensitive syndrome 3
Spastic ataxia 1, autosomal dominant
Caudal regression syndrome
Neural tube defects
Amyotrophic lateral sclerosis 8
Spinal muscular atrophy, late-onset, Finkel type
Combined oxidative phosphorylation deficiency 20
Microphthalmia, syndromic 11
Wagner syndrome 1
Cardiomyopathy, familial hypertrophic 15
Cardiomyopathy, dilated, 1W
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
Charcot-Marie-Tooth disease type, axonal type, 2Y
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
Vitamin D-dependent rickets, type 2A
Lymphedema, hereditary, ID
Von Hippel Lindau
Erythrocytosis, familial, 2 (Chuvash polycythemia)
Cataract 30
Arthrogryposis, renal dysfunction, and cholestasis 2
Vitamin K-dependent clotting factors, combined deficiency of, 2
Drug metabolism, VKORC1-related
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
Myopathy, X-linked, with excessive autophagy
Leukodystrophy, hypomyelinating 12
Choreoacanthocytosis
Cohen syndrome
Parkinson disease 23, autosomal recessive, early onset
Parkinson disease 17
Spastic paraplegia 53, autosomal recessive
Neutropenia, neutrophil dysfunction, bone marrow fibrosis, and nephromegaly
Pontocerebellar hypoplasia, type 2E
Pontocerebellar hypoplasia type 1A
Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
Spinocerebellar ataxia, autosomal recessive 22
von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
DeSanto-Shinawi syndrome
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Neutropenia, severe congenital, X-linked
Bardet-Biedl syndrome 15
Congenital heart defects, hamartomas of tongue, and polysyndactyly
Meckel-Gruber syndrome type 6, modifier of
Kallmann syndrome
Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
Short -rib thoracic dysplasia 11 with or without polydactyly
Cranioectodermal dysplasia 2
Short -rib thoracic dysplasia 7 with or without polydactyly
Neurodegeneration with brain iron accumulation 5
Short -rib thoracic dysplasia 8 with or without polydactyly
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Amelogenesis imperfecta, hypomaturation type, IIA3
Galloway-Mowat syndrome
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Wolfram syndrome
Usher syndrome, type 2D
Deafness, autosomal recessive 31
Wiskott-Aldrich syndrome 2
Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Arthropathy, progressive pseudorheumatoid, of childhood
Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
Pseudohypoaldosteronism, type IIB
Osteoprosis, autosomal dominant
Osteogenesis imperfecta, type XV
Odontoonychodermal dysplasia
Schopf-Schulz-Passarge syndrome
Tooth agenesis, selective, 4
Split-hand/foot malformation 6
Tetraamelia, autosomal recessive
Mullerian aplasia and hyperandrogenism
46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL syndrome)
Robinow syndrome, autosomal dominant
Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Fuhrmann syndrome
Dyskeratosis congenita, autosomal recessive 3
Werner syndrome
Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome
Epileptic encephalopathy, early infantile, 28
Spinocerebellar ataxia, autosomal recessive 12
Xanthinuria, type I
XG blood group
Lymphoproliferative syndrome, X-linked, 2
X-inactivation, familial skewed, 1
McLeod syndrome
Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group C
Angioedema induced by ACE inhibitors, susceptibility to
Nephronophthisis-like nephropathy 1
Basal ganglia calcification, idiopathic, 6
Short stature, microcephaly, and endocrine dysfunction
Desbuquois dysplasia 2
Ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation
Charcot-Marie-Tooth disease, dominant intermediate C
Myopathy, lactic acidosis, and sideroblastic anemia 2
Split-foot malformation with mesoaxial polydactyly
Selective T-cell defect
Skeletal defects, genital hypoplasia, and mental retardation
Mental retardation, autosomal dominant 22
Primrose syndrome
Immunodeficiency-Centromeric Instability-Facial Anomalies 2
Lethal congenital contracture syndrome 6
Mental retardation, X-linked 91
Mental retardation, X-linked syndromic, Raymond type
Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
Mowat-Wilson syndrome
Diabetes mellitus, transient neonatal, 1
46,XY sex reversal 9
Spastic paraplegia 15
Spastic paraplegia 33, autosomal dominant
Craniosynostosis 6
Holoprosencephaly 5
Congenital heart defects, nonsyndromic, 1, X-linked
Heterotaxy, visceral, 1, X-linked
VACTERL association, X-linked, with or without hydrocephalus
Mandibuloacral dysplasia with type B lipodystrophy
Restrictive dermopathy, lethal
Ciliary dyskinesia, primary, 22
Mental retardation, autosomal domianant, 30
Spermatogenic failure 14
Postaxial polydactyly type A, autosomal recessive
Microcephaly 10, primary, autosomal recessive
Exudative vitreoretinopathy 6
Retinitis pigmentosa 72
Mental retardation, X-linked 89
Joubert syndrome 19
Nephronophthisis 14
Brittle cornea syndrome 1
Retinitis pigmentosa 58
Spinocerebellar ataxia, autosomal recessive 5
Myopia 21, autosomal dominant
Mental retardation, X-linked 92
Paget disease of bone 6
Mental retardation, X-linked 97
Seborrhea-like dermatitis with psoriasiform elements
Mental retardation, X-linked 45
Oocyte maturation defect 1
Acromelic frontonasal dysostosis
2-methylbutyryl-CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase, very long chain, deficiency of
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
Alpha-methylacetoacetic aciduria
Dyskeratosis congenita, autosomal dominant 6
Dyskeratosis congenita, autosomal recessive 7
Renal tubular dysgenesis
ACE serum levels
Blood group, Yt system
Blood group, Duffy system
Infantile cerebellar-retinal degeneration
Optic atrophy 9
Blood group, P system
Achalasia-addisonianism-alacrimia syndrome
Keratoderma, palmoplantar, punctate type IA
Charcot-Marie-Tooth disease, axonal, type 2N
Epileptic encephalopathy, early infantile, 29
Leukoencephalopathy, progressive, with ovarian failure
Hyperlysinemia
GABA-transaminase deficiency
ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
Ichthyosis, harlequin
Ichthyosis, lamellar, type 2
Surfactant metabolism dysfunction, pulmonary, 3
Interstitial lung disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
Colchicine metabolism, association with
Cholestasis, progressive familial intrahepatic 2
Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
Pseudohyperkalemia, familial, 2, due to red cell leak
Blood group, Langereis system
Anemia, sideroblastic, and spinocerebellar ataxia
Apocrine gland secretion, variation in
Dubin-Johnson syndrome
Pseudoxanthoma elasticum
Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
Cardiomyopathy, dilated, 10
Atrial fibrillation, familial 12
Cantu syndrome
Adrenoleukodystrophy
Bile acid synthesis defect, congenital, 5
Methylmalonic aciduria and homocystinuria, cblJ type
Blood group, junior system
Sitosterolemia
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Chanarin-Dorfman syndrome
Blood group, ABO system
Isobutyryl-CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase family, member 9, deficiency of
Acyl-CoA dehydrogenase, medium chain, deficiency of
Acyl-CoA dehydrogenase, short-chain, deficiency of
Peroxisomal acyl-CoA oxidase deficiency
Spondyloenchondrodysplasia with immune dysregulation
Combined malonic and methylmalonic aciduria
Mental retardation, X-linked 63
Myopathy, congenital, with fiber-type disproportion 1
Nemaline myopathy 3
Myopathy, nemaline, with stiffness and hypertonia
Myopathy, scapuloperoneal
Moyamoya disease
Multisystemic smooth muscle dysfunction syndrome
Aortic aneurysm, familial thoracic 6
Baraitser-Winter syndrome 1
Cardiomyopathy, dilated , 1R
Cardiomyopathy, familial hypertrophic 11
Cardiomyopathy, restrictive
Left ventricular noncompaction
Atrial septal defect 5
Deafness, autosomal dominant 20
Baraitser-Winter syndrome 2
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Visceral myopathy
Bleeding disorder, platelet-type, 15
Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
Focal segmental glomerulosclerosis 1
Fibrodysplasia ossificans progressiva
Heterotaxy, visceral, 4, autosomal
Hereditary hemorrhagic telangiectasia, type 2
Aminoacylase 1 deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
Reticulate acropigmentation of Kitamura
Inflammatory skin and bowel disease, neonatal 1
Cone-rod dystrophy 9
Weill-Marchesani syndrome 1
Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
Weill-Marchesani-like syndrome
Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
Ehlers-Danlos syndrome, type VII
Geleophysic dysplasia 1
Ectopia lentis, isolated, autosomal recessive
Dyschromatosis symmetrica hereditaria
Aicardi-Goutieres syndrome 6
Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
Nephrotic syndrome, type 9
Deafness, autosomal dominant 44
Dyskinesia, familial, with facial myokymia
Lethal congenital contracture syndrome 8
Vibratory urticaria
Polymicrogyria, bilateral frontoparietal
Polymicrogyris, bilateral perisylvian
Lethal congenital contracture syndrome 9
Usher syndrome, type IIC
Hypermethioninemia due to adenosine kinase deficiency
Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28)
Beta-blocker response, association with
Beta-2-adrenoreceptor agonist, reduced response to
Adenylosuccinase deficiency
Premature ovarian failure
Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)
Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
AFP deficiency, congenital
Hereditary persistence of AFP
Aspartylglucosaminuria
Corneal dystrophy, Fuchs endothelial, 8
Sengers syndrome
Glycogen storage disease III
Lipodystrophy, congenital generalized, type 1
Rhizomelic chondrodysplasia punctata, type 3
Myasthenic syndrome, congenital 8
Mental retardation, X-linked 88
Hyperoxaluria, primary, type 1
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
Joubert syndrome 3
Immunodeficiency with hyper-IgM, type 2
Deafness, X-linked 5
Leukodystrophy, hypomyelinating, 3
Pituitary adenoma, familial isolated
Leber congenital amaurosis 4
Retinitis pigmentosa, juvenile, AIPL1-related
Cone-rod dystrophy, AIPL1-related
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Adenylate kinase deficiency, hemolytic anemia due to
Reticular dysgenesis
Long QT syndrome 11
46,XY sex reversal 8
Bile acid synthesis defect, congenital, 2
Cowden syndrome 6
Proteus syndrome
Hypoinsulinemic hypoglycemia with hemihypertrophy
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Porphyria, acute hepatic
Anemia, sideroblastic 1
Protoporphyria, erythropoietic
Dysalbuminemic hyperthyroxinemia
Analbuminemia
Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
Microphthalmia, isolated 8
Sjogren-Larsson syndrome
Hyperprolinemia, type II
Succinic semialdehyde dehydrogenase deficiency
Methylmalonate semialdehyde dehydrogenase deficiency
Epilepsy, pyridoxine-dependent
Glycogen storage disease XII
Fructose intolerance, hereditary
Congenital disorder of glycosylation, type Ik
Congenital disorder of glycosylation, type Ip
Congenital disorder of glycosylation, type Ig
Epileptic encephalopathy, early infantile, 36
Myasthenic syndrome, congenital 15
Congenital disorder of glycosylation, type Ii
Myasthenic syndrome, congenital 14
Congenital disorder of glycosylation, type Id
Congenital disorder of glycosylation, type Ic
Congenital disorder of glycosylation, type Ih
Congenital disorder of glycosylation, type Il
Neuroblastoma, susceptibility to, 3
Alstrom syndrome
Ichthyosiform erythroderma, congenital, nonbullous, 1
Asthma, diminished response to antileukotriene treatment in
Hypophosphatasia, infantile
Odontohypophosphatasia
Spastic paralysis, infantile onset ascending
Primary lateral sclerosis, juvenile
Amyotrophic lateral sclerosis 2
Schizophrenia
Frontonasal dysplasia 3
Frontonasal dysplasia 1
Parietal foramina 2
Frontonasal dysplasia 2
Bile acid synthesis defect, congenital, 4
Alpha-methylacyl-CoA racemase deficiency
Amelogenesis imperfecta type IF
Amelogenesis imperfecta, type 1E
Osteopathia striata with cranial sclerosis
Persistent Mullerian duct syndrome, type I
Persistent Mullerian duct syndrome, type II
Megaloblastic anemia-1, Norwegian type
Myoadenylate deaminase deficiency
Pontocerebellar hypoplasia type 9
Spastic paraplegia 63
Erythrocytic AMP deaminase deficiency
Glycine encephalopathy
Amyotrophic lateral sclerosis 9
Hypobetalipoproteinemia, familial, 2
Spherocytosis, hereditary 1
Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
Craniometaphyseal dysplasia
Chondrocalcinosis 2
Microcephaly, primary autosomal recessive, 16
KBG syndrome
Thrombocytopenia 2
Nephronophthisis 16
Focal segmental glomerulosclerosis 8
Spinocerebellar ataxia, autosomal recessive 10
Craniocervical dystonia, autosomal dominant (Dystonia 24)
Gnathodiaphyseal dysplasia
Scott syndrome
Kallmann syndrome 1
Hemangioma, capillary infantile, susceptibility to
Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome)
Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
MEDNIK syndrome
Mental retardation, X-linked syndromic, Fried type (Pettigrew syndrome)
Psoriasis 15, pustular, susceptibility to
Hypocalciuric hypercalcemia, familial, type III
Hermansky-Pudlak syndrome 2
Spastic paraplegia 47, autosomal recessive
Stuttering, familial persistent, 1
Spastic paraplegia 51, autosomal recessive
Spastic paraplegia 50, autosomal recessive
Spastic paraplegia 52, autosomal recessive
Spastic paraplegia 48, autosomal recessive
Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
Hypotrichosis 1
Hypoalphalipoproteinemia
Amyloidosis, systemic nonneuronopathic
Apolipoprotein A-II deficiency
Hyperchylomicronemia
Hypobetalipoproteinemia, familial
Hypercholesterolemia, familial
Hyperlipoproteinemia, type Ib
Apolipoprotein C-III deficiency
Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
Mitochondrial complex IV deficiency
Alzheimer disease, familial
Cerebral amyloid angiopathy
Maturity-onset diabetes of the young, type 14
Adenine phosphoribosyltransferase deficiency
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Blood group, Colton
Diabetes insipidus, nephrogenic, autosomal
Blood group, GIL
Androgen insensitivity
Androgen insensitivity, partial
Heterotopia, periventricular, autosomal recessive
Hyperargininemia
Adams-Oliver syndrome 1
Nephrotic syndrome, type 8
Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)
Mental retardation, X-linked 46
Epileptic encephalopathy, early infantile, 8
Mental retardation, autosomal dominant 14
Coffin-Siris syndrome 2
Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
Joubert syndrome 8
Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa 55
Bardet Biedl syndrome 3
Spastic paraplegia 61
Ciliary dyskinesia, primary, 23
ACTH-independent macronodular adrenal hyperplasia 2
Webb-Datani syndrome
Metachromatic leukodystrophy
Mucopolysaccharidosis type VI (Maroteaux-Lamy)
Chondrodysplasia punctata 1, X-linked recessive
Blood group, Dombrock
Partington X-linked mental retardation syndrome
Epileptic encephalopathy, early infantile, 1
Lissencephaly, X-linked 2
Hydranencephaly with abnormal genitalia
Mental retardation, X-linked 29/32/33/38/43/54/76/87
Proud syndrome
Corpus callosum, agenesis of, with abnormal genitalia
Farber lipogranulomatosis
Spinal muscular atrophy with progressive myoclonic epilepsy
Barrett esophagus/Esophageal adenocarcinoma
Central hypoventilation syndrome, congenital (Haddad syndrome)
Skin/hair/eye pigmentation 9
Argininosuccinic aciduria
Asparagine synthetase deficiency
Aspartoacylase deficiency (Canavan disease)
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)
Microcephaly, primary autosomal recessive, 5
Citrullinemia
Bohring-Opitz syndrome
Bainbridge-Ropers syndrome
Ataxia, cerebellar, Cayman type
Achromatopsia 7
AICAR transformylase/IMP cyclohydrolase deficiency
Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
Neuropathy, hereditary sensory, type IF
Breast cancer, susceptibility to
Ataxia-Telangiectasia
Dentatorubro-pallidoluysian atrophy
Persistent hyperplastic primary vitreous, autosomal recessive
Parkinson disease 9 (Kufor-Rakeb syndrome)
Ceroid lipofuscinosis, neuronal, 12
Alternating hemiplegia of childhood
Migraine, familial hemiplegic 2
Alternating hemiplegia of childhood 2
Brody myopathy
Darier-White disease
Acrokeratosis verruciformis (Hopf disease)
Spinocerebellar ataxia, X-linked 1
Benign chronic pemphigus
Combined oxidative phosphorylation deficiency 22
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Mental retardation, X-linked, syndromic, Hedera type
Parkinsonism with spasticity, X-linked
Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
Renal tubular acidosis, distal, autosomal recessive
Renal tubular acidosis with deafness
Deafness, congenital, with onychodystrophy, autosomal dominant
Zimmermann-Laband syndrome 2
Menkes disease
Wilson disease
Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
Mental retardation-hypotonic facies syndrome, X-linked
Juberg-Marsidi syndrome
Carpenter-Waziri syndrome
Holmes-Gang syndrome
Smith-Fineman-Myers syndrome
Alpha-thalassemia/mental retardation syndrome
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 2
Spinocerebellar ataxia 3 (Machado-Joseph disease)
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
3-methylglutaconic aciduria, type I
Spermatogenic failure 5
Mental retardation, autosomal dominant 26
Diabetes insipidus, neurohypophyseal
Diabetes insipidus, nephrogenic, X-linked
Caudal duplication anomaly
Oligodontia-colorectal cancer syndrome
Immunodeficiency 43
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11
Ehlers-Danlos syndrome, progeroid type, 2
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Peters-plus syndrome
Congenital disorder of glycosylation, type IId
Ehlers-Danlos syndrome with short stature and limb anomalies
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
Meckel syndrome 9
Meckel syndrome 10
Hypercholanemia, familial
Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
Nestor-Guillermo progeria syndrome
Tumor predisposition syndrome
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 9
Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
Deafness, dystonia, and cerebral hypomyelination
Butyrlcholinesterase deficiency
Maple syrup urine disease, type Ia
Maple syrup urine disease, type Ib
Branched-chain ketoacid dehydrogenase kinase deficiency
Immunodeficiency 37
Severe speech sound disorder
Hypercarotenemia and vitamin A deficiency, autosomal dominant
Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
CML treatment, response to
Bjornstad syndrome
Central hypoventilation syndrome, congenital
Spinocerebellar ataxia 31
Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Cataract, cortical, juvenile-onset
Cataract 12, multiple types
Syndactyly, mesoaxial synostotic, with phalangeal reduction
Short sleeper
Renal dysplasia, cystic, susceptibility to
Myopathy, centronuclear, 2
Maturity-onset diabetes of the young, type 11
Bloom syndrome
Agammaglobulinemia 4
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 9
Hyperbiliverdinemia
Osteogenesis imperfecta, type XIII
Premature ovarian failure 4
Ovarian dysgenesis 2
Brachydactyly, type A2
Microphthalmia, syndromic 6
Orofacial cleft 11
Diaphanospondylodysostosis
Polyposis syndrome, hereditary mixed, 2
Polyposis, juvenile intestinal
Acromesomelic dysplasia, Demirhan type
Brachydactyly, type A1, D
Brachydactyly A2
Brachydactyly C/Symphalangism-like phenotype
Pulmonary hypertension, primary
Pulmonary venoocclusive disease 1
Aplasia cutis congenita, nonsyndromic
Multiple mitochondrial dysfunctions syndrome 2
Bisphosphoglycerate mutase deficiency
Noonan syndrome
Cardiofaciocutaneous syndrome
LEOPARD syndrome 3
Rigidity and multifocal seizure syndrome, lethal neonatal
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
Cerebellofaciodental syndrome
Breast cancer
Fanconi anemia, complementation group J
Mental retardation, X-linked 93
Lipodystrophy, congenital generalized, type 2
Encephalopathy, progressive, with or without lipodystrophy
Blood group, OK
Bartter syndrome, type 4A
Sensorineural deafness with mild renal dysfunction
Biotinidase deficiency
Agammaglobulinemia, X-linked
Agammaglobulinemia and isolated hormone deficiency
Hypogammaglobulinemia, X-linked
Mosaic variegated aneuploidy syndrome
Premature chromatid separation trait
Muscular dystrophy, limb-girdle, type 2X
Albinism, oculocutaneous, type V
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Perrault syndrome 5
Leukodystrophy, hypomyelinating, 13
Corpus callosum hypoplasia, recessive
Temtamy syndrome
Combined oxidative phosphorylation deficiency 7
Spastic paraplegia 55, autosomal recessive
Congenital dyserythropoietic anemia type Ib
Neurodegeneration with brain iron accumulation 4
Spastic Paraplegia 43
C1q deficiency
Late-onset retinal degeneration
Complement component C1s deficiency
Complement component 2 deficiency
Ciliary dyskinesia, primary 26
Orofaciodigital syndrome XIV
Retinitis pigmentosa 54
Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
Blood group, Chido/Rodgers system
Complement component 4B deficiency
Eculizumab, poor response to
Complement component 5 deficiency
Joubert syndrome 17
Orofaciodigital syndrome VI
Complement component 6 deficiency
Complement component 7 deficiency
Complement component 8 deficiency, type I
Complement component 8 deficiency, type II
Retinitis pigmentosa 64
Cone-rod dystrophy 16
Complement component 9 deficiency
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Hyperchlorhidrosis, isolated
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Retinitis pigmentosa 17
Carbonic anhydrase VA deficiency
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
Deafness, autosomal recessive 93
Cone-rod synaptic disorder, congenital nonprogressive
Episodic ataxia, type 2
Migraine, familial hemiplegic 1
Dystonia 23
Brugada syndrome 3
Timothy syndrome
Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
Aland Island eye disease
Cone-rod dystrophy, X-linked, 3
Night blindness, congenital stationary, X-linked, type 2A
Spinocerebellar ataxia 42
Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessive
Retinal cone dystrophy 4
Brugada syndrome 4
Episodic ataxia, type 5
Mental retardation, autosomal dominant 10
Congenital disorder of glycosylation, type Iz
Long QT syndrome 14
Recurrent cardiac arrest, infantile
Ventricular tachycardia, catecholaminergic polymorphic, 4
Long QT syndrome 15
Cardiomyopathy, familial hypertrophic, 19
Cerebellar ataxia, nonprogressive, with mental retardation
Desbuquois dysplasia 1
Spastic paraplegia 76, autosomal recessive
Muscular dystrophy, limb-girdle, type 2A
Eosinophilic myositis
Vitreoretinopathy, neovascular inflammatory
B-cell expansion with NFKB and T-cell anergy
Immunodeficiency 11
Psoriasis 2
Candidiasis, familial, 2
Combined oxidative phosphorylation deficiency 27
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
FG syndrome 4
Mental retardation, with or without nystagmus
Autoimmune lymphoproliferative syndrome, type IIA
Caspase 8 defiency
Myopathy, vacuolar, with CASQ1 aggregates
Ventricular tachycardia, catecholaminergic, polymorphic, 2
Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
Acatalasemia
Lipodystrophy, congenital generalized, type 3
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Cardiomyopathy, familial hypertrophic
Long QT syndrome 9
Creatine phosphokinase, elevated serum
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Juvenile myelomonocytic leukemia, familial
Homocystinuria due to cystathionine beta-synthase deficiency
46,XY sex reversal 5
Mental retardation, autosomal recessive 3
Joubert syndrome 9
Meckel syndrome 6
COACH syndrome
Hennekam lymphangiectasia-lymphedema syndrome
Ciliary dyskinesia, primary, 17
Ciliary dyskinesia, primary, 20
Congenital disorder of glycosylation, type IIo
Hypotonia, infantile, with psychomotor retardation
Ciliary dyskinesia, primary,30
Ritscher-Schinzel syndrome 2
Bardet-Biedl syndrome, modifier of
Ciliary dyskinesia, primary, 14
Ciliary dyskinesia, primary, 15
Ciliary dyskinesia, primary, 27
Three M syndrome 3
Spinocerebellar ataxia 40
Cerebral cavernous malformations 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Ciliary dyskinesia, primary 29
Neuropathy, hereditary sensory, with spastic paraplegia
Raph blood group
Immunodeficiency, common variable 3
Birbeck granule deficiency
Immunodeficiency due to defect in CD3-Zeta
Lymphoproliferative syndrome 2
Focal segmental glomerulosclerosis 3
Methylmalonic aciduria due to transcobalamin receptor defect
Platelet glycoprotein IV deficiency
Immunodeficiency 19
Immunodeficiency 18
Immunodeficiency 17
OKT4 epitope deficiency
Immunodeficiency with Hyper-IgM, type 3
Immunodeficiency, with hyper-IgM, type 1
Blood group, Indian
Hemolytic uremic syndrome, atypical, susceptibility to, 2
Blood group, Cromer system
CD59 deficiency
Agammaglobulinemia 3
Agammaglobulinemia 6
Immunodeficiency, common variable, 6
CD8 deficiency, familial
C syndrome( Opitz Trigonocephaly syndrome)
Anemia, dyserythropoietic congenital, type Ia
Takenouchi-Kosaki syndrome
Meier-Gorlin syndrome 5
Hyperparathyroidism 1
Hyperparathyroidism-jaw tumor syndrome
Carcinoma, parathyroid
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
CDH1-related cancer
Mental retardation, autosomal dominant 3
Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
Hypotrichosis, congenital, with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Cone-rod dystrophy 15
Retinitis pigmentosa 65
Melanoma, cutaneous malignant, susceptibility to, 3
Lissencephaly 7 with cerebellar hypoplasia
Microcephaly, primary autosomal recessive, 3
Microcephaly 12, primary, autosomal recessive
Epileptic encephalopathy, early infantile, 2
Rett syndrome, atypical
Angelman-like syndrome
Multiple endocrine neoplasia, type IV
IMAGE syndrome
Beckwith-Wiedemann syndrome
Melanoma, familial
Melanoma-pancreatic cancer syndrome
Holoprosencephaly 11
Hypotrichosis 2
Peeling skin syndrome 1
Meier-Gorlin syndrome 4
Deafness, autosomal dominant 4B
Acute myeloid leukemia, familial
Specific granule deficiency
Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
Maturity-onset diabetes of the young, type 8
Microcephaly 13, primary, autosomal recessive
Ciliary dyskinesia, primary 31 (Stromme syndrome)
Seckel syndrome 4
Microcephaly, primary autosomal recessive, 6
Short-rib thoracic dysplasia 13 with or without polydactyly
Microcephaly 8, primary, autosomal recessive
Seckel syndrome 5
Microcephaly 9, primary, autosomal recessive
Nephronophthisis 15
Morbid obesity and spermatogenic failure
Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
Joubert syndrome 15
Mosaic variegated aneuploidy syndrome 2
Seckel syndrome 6
Nephronophthisis 18
Retinitis pigmentosa 26
Epilepsy, progressive myoclonic 8
Ichthyosis, congenital, autosomal recessive 9
Carboxylesterase 1 deficiency
Hyperalphalipoproteinemia 1
Heterotaxy, visceral, 6, autosomal recessive
van der Woude syndrome 2
Hemolytic uremic syndrome, atypical
Complement factor B deficiency
Transposition of the great arteries, dextro-looped 2
Double-outlet right ventricle
Heterotaxy, visceral, 2, autosomal
Complement factor D deficiency
Complement factor H deficiency
Hemolytic-uremic syndrome, atypical, susceptibility to
Complement factor I deficiency
Nemaline myopathy 7
Properdin deficiency, X-linked
Cystic fibrosis
Mental retardation, autosomal dominant 40
Myasthenic syndrome, congenital 6, presynaptic
Myopathy, isolated mitochondrial, autosomal dominant
Parkinson disease 22, autosomal dominant
Epileptic encephalopathy, childhood-onset
CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
Autism, susceptibility to 18
Li-Fraumeni syndrome 2
Chitotriosidase deficiency
Muscular dystrophy, congenital, megaconial type
Choiroideremia
Pontocerebellar hypoplasia, type 8
Amyotrophic lateral sclerosis, CHMP2B-related
Dementia, familial, nonspecific
Frontotemporal dementia, chromosome 3-linked
Cataract 31, multiple types
Duane retraction syndrome 2
Megalocornea 1, X-linked
Eagle-Barrett syndrome
Myasthenic syndrome, congenital, 1B, fast channel
Myasthenic syndrome, congenital, 1A, slow-channel congenital
Epilepsy, nocturnal frontal lobe, type 4
Epilepsy, nocturnal frontal lobe, type 1
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, slow-channel congenital, 2A
Epilepsy, nocturnal frontal lobe, type 3
Myasthenic syndrome, congenital, fast channel
Myasthenic syndrome,congenital, slow-channel
Myasthenic syndrome, congenital, 3C
Myasthenic syndrome, fast-channel congenital
Myasthenic syndrome, slow-channel congenital
Multiple pterygium syndrome
Escobar syndrome
Ehlers-Danlos syndrome, musculocontractural type 1
Spondyloepiphyseal dysplasia with congenital joint dislocations
Macular dystrophy, corneal, 1
Macular dystrophy, corneal, 2
Peeling skin syndrome 3
Temtamy preaxial brachydactyly syndrome
Cocoon syndrome
Deafness, autosomal recessive 48
Usher syndrome type IJ
Lipodystrophy, familial partial, type 5
Bare lymphocyte syndrome, type II
Wolfram syndrome 2
Atrial septal defect 8
Ventricular septal defect 2
Primary cervical dystonia, adult-onset
Filippi syndrome
Pontocerebellar hypoplasia, type 3
Cold-induced sweating syndrome 2
Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive, Myotonia levior
Epilepsy, idiopathic, generalized, susceptibility to, 11
Epilepsy, juvenile, absence, suscepibility to, 2
Epilepsy, juvenile myoclonic, susceptibility to, 8
Leukoencephalopathy with ataxia
Dent disease 1
Hypophosphatemic rickets, X-linked recessive
Nephrolithiasis, type I
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
Bartter syndrome, type 4, digenic
Bartter syndrome, type 3
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Deafness, autosomal recessive 29
Hypomagnesemia 3, renal
Hypomagnesemia 5, renal, with ocular involvement
Candidiasis, familial, 4
Mental retardation, X-linked, syndromic 32
Deafness, autosomal recessive 103
Congenital short bowel syndrome
Ceroid lipofuscinosis, neuronal, 3
Ceroid lipofuscinosis, neuronal, 5
Ceroid lipofuscinosis, neuronal, 6
Ceroid lipofuscinosis, neuronal, 8
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
Pontocerebellar hypoplasia type 10
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)
Deafness, autosomal recessive 81
Retinitis pigmentosa 61
Usher sydnrome, type 3A
Myotonic dystrophy 2
Retinitis pigmentosa 49
Achromatopsia 2
Leber congenital amaurosis
Retinitis pigmentosa 45
Achromatopsia 3
Macular degeneration, juvenile
Hypomagnesemia 6 ,renal
Jalili syndrome
Myopathy, congenital, Compton-North
Epilepsy, familial adult myoclonic 5
Lethal congenital contracture syndrome 7
Cortical dysplasia-focal epilepsy syndrome
Pitt-Hopkins like syndrome 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Neurodegeneration with brain iron accumulation 6
Deafness, autosomal dominant 9
Congenital disorder of glycosylation, type IIg
Congenital disorder of glycosylation, type IIj
Congenital disorder of glycosylation, type IIi
Congenital disorder of glycosylation, type Iil
Congenital disorder of glycosylation, type IIe
Congenital disorder of glycosylation, type IIh
Metaphyseal chondrodysplasia, Schmid type
Stickler syndrome, type II
Fibrochondrogenesis
Marshall syndrome
Deafness, autosomal dominant 13
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Weissenbacher-Zweymuller syndrome
Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type III
Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
Myasthenic syndrome, congenital, 19
Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
Knobloch syndrome 1
Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type VII, autosomal dominant
Ehlers-Danlos syndrome, cardiac valvular form
Fibrosis of extraocular muscles, congenital 5
Steel syndrome
Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
Ehlers-Danlos syndrome, type IV
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
Hemorrhage, intracerebral, susceptibility to
Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
Mental retardation, autosomal dominant 34
Alport syndrome, X-linked
Deafness, X-linked, with cochlear malformation
Ehlers-Danlos syndrome, type II
Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Myosclerosis, congenital
Epilepsy, progressive myoclonic, autosomal recessive
Dystonia 27
Epidermolysis bullosa dystrophica, autosomal dominant
Epidermolysis bullosa dystrophica, autosomal recessive
Epidermolysis bullosa dystrophica inversia
Epidermolysis bullosa pruriginosa
Nail disorder, nonsyndromic congenital, 8
Epidermolysis bullosa dystrophica, Bart type
Epidermolysis bullosa, pretibial
Transient bullous dermolysis of the newborn
Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
Stickler syndrome, type IV
Stickler syndrome, Type V
Epiphyseal dysplasia, multiple, 3
3MC syndrome 2
Myasthenic syndrome, congenital 5
Pseudoachondroplasia
Multiple ephiphyseal dysplasia
Medication response, association with
Autoimmune interstitial lung, joint, and kidney disease
Coenzyme Q10 deficiency 1
Coenzyme Q10 deficiency 7
Coenzyme Q10 deficiency, primary 6
Coenzyme Q10 deficiency, primary 8
Coenzyme Q10 deficiency 5
Preeclampsia/eclampsia 5
Immunodeficiency 8
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Charcot-Marie-Tooth disease, recessive intermediate D
Linear skin defects with multiple congenital anomalies 2
Aceruloplasminemia
Hypoceruloplasminemia
Febrile seizures, familial, 11
Epilepsy, familial temporal lobe, 5
Carboxypeptidase N deficiency
Coproporphyria
Harderoporphyria
Carbamoylphosphate synthetase I deficiency
Carnitine palmitoyltransferase deficiency I
Spastic paraplegia 73, autosomal dominant
Carnitine palmitoyltransferase II deficiency
Blood group, Knops system
Common variable immune deficiency, 7
Mental retardation, autosomal recessive 34
Leber congenital amaurosis 8
Retinitis pigmentosa 12, autosomal recessive
Pigmented paravenous chorioretinal atrophy
Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
Mental retardation, autosomal recessive 2
Osteogenesis imperfecta, type XVI
Rubinstein-Taybi syndrome
Atrioventricular septal defect, partial, with or without heterotaxy
Short stature with microcephaly and distinctive facies
Crisponi syndrome
Cold-induced sweating syndrome, type 1
Osteogenesis imperfecta, type VII
Leber congenital amaurosis 7
Cone-rod dystrophy 2
Cataract 9, multiple types
Myopathy, myofibrillar, 2
Cardiomyopathy, dilated, 1II
Congenital cataract and cardiomyopathy
Cataract, myofibrillar myopathy and cardiomyopathy
Cataract 10, multiple types
Cataract 42
Cataract 23
Cataract, congenital nuclear, autosomal recessive 3
Cataract, pulvurent
Cataract, sutural, with punctate and cerulean opacities
Cataract, Coppock-like
Cataract, congenital, cerulean type, 2
Cataract, congenital nuclear, autosomal recessive, 2
Cataract 39, multiple types
Cataract 2, multiple types
Cataract 4, multiple types
Cataract, progressive polymorphic cortical
Deafness, autosomal dominant 40
Leukoencephalopathy, diffuse hereditary, with spheroids
Surfactant metabolism dysfunction, pulmonary, 4
Surfactant metabolism dysfunction, pulmonary, 5
Neutrophilia, hereditary
Advanced sleep-phase syndrome, familial, 2
Jeune Asphyxiating Thoracic Dystrophy
Joubert syndrome 21
Cardiomyopathy, familial hypertrophic 12
Cardiomyopathy, dilated, 1M
Peeling skin syndrome 4
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)
Cerebroretinal microangiopathy with calcifications and cysts
Mental retardation, autosomal dominant, 21
Congenital cataracts, facial dysmorphism, and neuropathy
Cystathioninuria
Autoimmune lymphoproliferative syndrome, type V
Hereditary diffuse gastric cancer, familial
Arrhythmogenic right ventricular dysplasia, familial, 13
Mental retardation, autosomal dominant 19
Cystinosis
Immunodeficiency 24
Galactosialidosis
Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
Ceroid lipofuscinosis, neuronal, 10
Neuronal ceroid lipofuscinosis 13
Pycnodysostosis
Megaloblastic anemia-1, Finnish type
Pseudohypoaldosteronism, type IIE
Mental retardation, X-linked, syndromic 15 (Cabezas type)
Three M syndrome 1
Yakut short stature syndrome
Spinocerebellar ataxia, autosomal recessive 17
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome
46, XY disorder of sex development
Methemoglobinemia, type IV
Methemoglobinemia due to methemoglobin reductase deficiency
Chronic granulomatous disease, autosomal, due to deficiency of CYBA
Chronic granulomatous disease, X-linked
Immunodeficiency 34
Mitochondrial complex III deficiency, nuclear type
Thrombocytopenia 4
Spiegler-Brooke syndrome
Trichoepithelioma, multiple familial, 1
Cylindromatosis, familial
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
Aromatase deficiency
CYP1A2-related drug metabolism
Glaucoma, primary open angle, adult-onset
Peters anomaly
Glaucoma 3A, primary congenital
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
1,25(OH)(2)D-24-hydroxylase deficiency
Focal facial dermal dysplasia 4
Cerebrotendinous xanthomatosis
Vitamin D-dependent rickets, type 1A
CYP2A6-related drug metabolism
Efavirenz, poor metabolism of
Drug metabolism, CYP2C19-related
Rhabdomyolysis, cerivastatin-induced
Drug metabolism, CYP2C9-related
Drug metabolism, CYP2CD6-related
Vitamin D hydroxylation deficient rickets, type 1B
Spastic paraplegia 56, autosomal recessive
Drug metabolism, CYP3A4-related
Drug metabolism, CYP3A5-related
Warfarin metabolism
Ichthyosis, congenital, autosomal recessive 5
Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
Bile acid synthesis defect, congenital, 3
Myoglobinuria, recurrent
Leber hereditary optic neuropathy
Cardiomyopathy, infantile histiocytoid
D-2-hydroxyglutaric aciduria 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
Muscular dystrophy-dystroglycanopathy, type C, 9
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Dopamine beta-hydroxylase deficiency
Maple syrup urine disease, type II
Woodhouse-Sakati syndrome
Giant axonal neuropathy 2, autosomal dominant
Mirror movements 1
Deafness, autosomal recessive 66
Mitral valve prolapse 2
Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
Corneal dystrophy, congenital stromal
Al-Raqad syndrome
Neuropathy, distal hereditary motor, type VIIB
Perry syndrome
Lissencephaly, X-linked, 1
Subcortical laminal heteropia, X-linked
Pentosuria
Xeroderma pigmentosum, group E
Aromatic l-amino acid decarboxylase deficiency
Spastic paraplegia 54
Congenital disorder of glycosylation, type Ir
Spondylometaepiphyseal dysplasia, short limb-hand type
Warsaw breakage syndrome
Mental retardation, X-linked 102
Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
Singleton-Merten syndrome 2
Orofaciodigital syndrome V
Mental retardation, autosomal dominant 24
2,4-dienoyl-CoA reductase deficiency
Epilepsy, familial focal, with variable foci
Myopathy, myofibrillar 1
Cardiomyopathy, dilated, 1I
Deafness, autosomal dominant 5
Deafness, autosomal recessive 59
Diarrhea 7
Nephrotic syndrome, type 7
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Desmosterolosis
Smith-Lemli-Opitz syndrome
Retinitis pigmentosa 59
Megaloblastic anemia due to dihydrofolate reductase deficiency
46,XY partial gonadal dysgenesis, with minifascicular neuropathy
46,XY sex reversal 7
Postaxial acrofacial dysostosis (Miller syndrome)
Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
Deafness, autosomal dominant 64
Deafness, autosomal dominant 1
Premature ovarian failure 2A
DICER1 syndrome
Mental retardation, FRA12A type
Perlman syndrome
Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
Pyruvate dehydrogenase E2 deficiency
Dihydrolipoyl dehydrogenase deficiency
Mental retardation, X-linked 90
Holoprosencephaly
Spondylocostal dysostosis 1, autosomal recessive
Adams-Oliver syndrome 6
Trichodontoosseous syndrome
Amelogenesis imperfecta, type IV
Orofacial cleft 15
Split-hand/foot malformation 1 with sensorineural hearing loss
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
Dimethylglycine dehydrogenase deficiency
Hypophosphatemic rickets, autosomal recessive 1
Myotonic dystrophy 1
Polyendocrine-polyneuropathy syndrome
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
Seckel syndrome 8
Ciliary dyskinesia, primary, 13
Ciliary dyskinesia, primary, 10
Ciliary dyskinesia, primary, 18
Spermatogenic failure
Ciliary dyskinesia, primary, 7
Ciliary dyskinesia, primary, 3, with or without situs inversus
Ciliary dyskinesia, primary, 1
Ciliary dyskinesia, primary, 9
Spinal muscular atrophy, distal, autosomal recessive, 5
Charcot-Marie-Tooth disease, axonal, type 2T
Muscular dystrophy, limb-girdle, type 1E
Parkinson disease 21
3-methylglutaconic aciduria, type V
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Ceroid lipofuscinosis, neuronal 4, Parry type
Kufs disease, autosomal dominant
Juvenile Parkinsonism, autosomal recessive
Ciliary dyskinesia, primary, 16
Mirror movements 3
Macular dystrophy, North Carolina type
Systemic lupus erythematosus 16
Epileptic encephalopathy, early infantile 31
Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
Charcot-Marie-Tooth disease, dominant intermediate B
Charcot-Marie-Tooth disease, axonal, type 2M
Myopathy, centronuclear
Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Tatton-Brown-Rahman syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency 40
Adams-Oliver syndrome 2
Epilepitic encephalopathy, early infantile, 23
Hyper-IgE recurrent infection syndrome, autosomal recessive
Myasthenic syndrome, congenital 10
Congenital disorder of glycosylation, type Im
Myasthenic syndrome, congenital, 13
Congenital disorder of glycosylation, type Ij (AR)
Developmental delay with short stature, dysmorphic features, and sparse hair
Congenital disorder of glycosylation, type Ie
Congenital disorder of glycosylation, type Iu
Congenital disorder of glycosylation, type Io
Ventricular fibrillation, paroxysmal familial, 2
Spermatogenic failure 9
Globozoospermia
5-fluorouracil toxicity
Dihydropyriminidase deficiency
Cone-rod dystrophy 21
Myoclonic dystonia
Arrhythmogenic right ventricular dysplasia, familial, 11
Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair
Hypotrichosis and recurrent skin vesicles
Ehlers-Danlos syndrome, musculocontractural type 2
Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
Cardiomyopathy, dilated, 1BB
Arrhythmogenic right ventricular dysplasia, familial, 10
Hypotrichosis 6
Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
Neuropathy, hereditary sensory and autonomic, type VI
Congenital anomalies of the kidney and urinary tract 1
Left ventricular noncompaction 1
Hermansky-Pudlak syndrome 7
Thyroid dyshormonogenesis 6
Thyroid dyshormonogenesis 5
Hypogonadotropic hypogonadism 19, with or without anosmia
Facioscapulohumeral muscular dystrophy, type 2
Robinow syndrome, autosomal dominant 2
Robinow syndrome, autosomal dominant 3
Dyggve-Melchior-Clausen disease
Smith-McCort dysplasia 1
Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
Short-rib thoracic dysplasia 3 with or without polydactyly
Mental retardation, autosomal dominant 7
Abdominal obesity-metabolic syndrome 3
Miyoshi muscular dystrophy 1
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
Ciliary dyskinesia, primary 25
Combined oxidative phosphorylation deficiency 12
Chondrodysplasia punctata 2, X-linked dominant
Male EBP disorder with neurologic defects (MEND)
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Arthrogryposis, distal, type 5D
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Lipoid proteinosis
Ectodermal dysplasia, anhidrotic, X-linked
Ectodermal dysplasia, hypohidrotic, X-linked 1
Tooth agenesis, selective, X-linked, 1 (XL)
Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Hair morphology 1
Ectodermal dysplasia, anhidrotic, autosomal recessive
Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal recessive
Mental retardation, autosomal recessive 50
Dominant Isolated Question-Mark Ears
Auriculocondylar Syndrome 3
Waardenburg syndrome, type 4B
Hirschsprung disease, susceptibility to, 4
Mandibulofacial dysostosis with alopecia
Waardenburg syndrome type 4A
ABCD syndrome
Hirschsprung disease, susceptibility to, 2
Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
Doyne honeycomb degeneration of retina
Malattia leventinese
Cutis laxa, autosomal recessive type IB
Epilepsy, myoclonic juvenile
Epilepsy, juvenile absence, susceptibility to, 1
Epilepsy, severe intractable
Craniofrontonasal dysplasia
Mandibulofacial dysostosis, Guion-Almeida type
Esophageal atresia, syndromic
Hypomagnesemia 4, renal
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
Erythrocytosis, familial, 3
Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
Fanconi renotubular syndrome 3
Kleefstra syndrome
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
Pulmonary venoocclusive disease 2
Leukoencephalopathy with vanishing white matter
Ovarioleukodystrophy
Richieri-Costa-Pereira Syndrome
Parkinson disease 18
Macular dystrophy with central cone involvement
Combined oxidative phosphorylation deficiency 17
Neutropenia, severe congenital 1, autosomal dominant
Neutropenia, cyclic
Deafness, autosomal recessive 88
Cutis laxa, autosomal dominant 1
Supravalvular aortic stenosis
Icthyosis, spastic quadriplegia, and mental retardation
Spinocerebellar ataxia 34
Startgardt disease 3
Spinocerebellar ataxia 39
Cerebellar atrophy, visual impairment, and psychomotor retardation
Emery-Dreifuss muscular dystrophy 1, X-linked
Bowen-Conradi syndrome
Nephrotic syndrome, type 10
Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
Glycogen storage disease XIII
Hypophosphatemic rickets, autosomal recessive 2
Arterial calcification, generalized, of infancy, 1
Spastic paraplegia 64
Adams-Oliver syndrome 4
Rubinstein-Taybi syndrome 2
Erthyrocytosis, familial 4
Ellipsocytosis 1
Mental retardation, autosomal dominant 11
Spherocytosis, type 5
Colorectal cancer, hereditary nonpolyposis, type 8
Diarrhea 5, with tufting enteropathy, congenital
Vici syndrome
Cataract 6, multiple types
Epilepsy, progressive myoclonic 2A (Lafora)
Erythrocytosis, familial, 1
Deafness, autosomal recessive 102
Eosinophil peroxidase deficiency
Lethal congenital contractural syndrome 2
Amyotrophic lateral sclerosis 19
Cerebrooculofacioskeletal syndrome 4
Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, complementation group B
Trichothiodystrophy 2, photosensitive
Fanconi anemia, complementation group Q
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G/Cockayne syndrome
Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
Bone marrow failure syndrome 2
UV-sensitive syndrome 2
Cockayne syndrome type A
Craniosynostosis 4
Spastic paraplegia 62, autosomal recessive
Spastic paraplegia 18, autosomal recessive
Blood group, Scianna system
Blood group, Radin
Periventricular nodular heterotopia 6
SC phocomelia syndrome
Roberts syndrome
Deafness, autosomal dominant, without vestibular involvement
Deafness, autosomal recessive 36
Estrogen resistance
Deafness, autosomal recessive 35
Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
Ethylmalonic encephalopathy
Thrombocytopenia 5
Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
Weyers acrodental dysostosis
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia, type 1C
Epidermolysis bullosa, nonspecific, autosomal recessive
Exostoses, multiple, type 1
Exostoses, multiple, type 2
Branchiootic syndrome 1
Branchiootorenal syndrome 1
Otofaciocervical syndrome 1
Cardiomyopathy, dilated, 1J
Retitinis pigmentosa 25
Weaver syndrome
Factor X deficiency
Factor XI deficiency
Angioedema, hereditary, type III
Factor XIIIA deficiency
Factor XIIIB deficiency
Prothrombin deficiency, congenital
Thrombophilia due to thrombin defect
Thrombophilia due to activated protein C resistance
Factor V deficiency
Factor VII deficiency
Hemophilia A
Hemophilia B
Thrombophilia, X-linked, due to factor IX defect
Warfarin sensitivity
Spastic paraplegia 35, autosomal recessive
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
Tyrosinemia, type I
Kenny-Caffey syndrome, type 2
Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
Leukodystrophy, hypomyelinating, 5
Neuropathy, hereditary sensory and autonomic, type IIB
Retitinis pigmentosa 28
Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
Deafness, autosomal recessive 104
Amelogenesis imperfecta, type 3
Interstitial nephritis, karyomegalic
Fanconi anemia, complementation group A
Fanconi anemia,complementation group B
Fanconi anemia, complementation group C
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group E
Fanconia anemia, complementation group F
Fanconi anemia type G
Fanconi anemia, complementation group I
Fanconi anemia type L
Fanconi anemia type M
Peroxisomal fatty acyl-CoA reductase 1 disorder
Combined oxidative phosphorylation deficiency 14
Autoimmune lymphoproliferative syndrome, type IA
Autoimmune lymphoproliferative syndrome, type IB
Hennekam lymphangiectasia-lymphedema syndrome 2
Synpolydactyly 2
Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
Marfan syndrome
MASS syndrome
Shprintzen-Goldberg syndrome
Marfan lipodystrophy syndrome
Congenital contractural arachnodactyly (Beals syndrome)
Fructose-1,6-bisphosphatase deficiency
Mitochondrial DNA depletion syndrome 13
Mental retardation 45, autosomal recessive
Neuronopathy, distal hereditary motor, type IID
Parkinson disease 15, autosomal recessive
Immunodeficiency 20
Epilepsy, myoclonic, adult familial, 2
Immunodeficiency due to Ficolin 3 deficiency
Porokeratosis 9
Kindler syndrome
Leukocyte adhesion deficiency, type III
Hypogonadotropic hypogonadism 22 with or without anosmia
Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
Familial visceral amyloidosis
Aarskog-Scott syndrome
Mental retardation, X-linked syndromic 16
Charcot-Marie-Tooth disease, type 4H
Lacrimoauriculodentodigital syndrome
Spinocerebellar ataxia 27
Metacarpal 4-5 fusion
Hypogonadotropic hypogonadism 20, with or without anosmia
Renal hypodysplasia/aplasia 2
Hypophosphatemic rickets, autosomal dominant
Tumoral calcinosis, hyperphosphatemic
Deafness, congenital with inner ear agenesis, microtia, and microdontia
Trichomegaly
Hypogonadotropic hypogonadism 6, with or without anosmia
Multiple synostoses syndrome 3
Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Jackson-Weiss syndrome
Pfeiffer syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
Hypodysfibrinogenemia
Hereditary leiomyomatosis and renal cell cancer
Reducing bod myopathy, X-linked 1A, with infantile or early childhood onset
Reducing bod myopathy, X-linked 1B, with late childhood or adult onset
Emery-Dreifuss muscular dystrophy 6, X-linked
Myopathy, X-linked, with postural muscle atrophy
Amyotrophic lateral sclerosis 11
Charcot-Marie Tooth disease, autosomal recessive, type 4J
Polymicrogyria, bilateral occipital
Yunis-Varon syndrome
Premature ovarian failure 6
Osteogenesis imperfecta, type XI
Bruck syndrome 1
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Cardiomyopathy, dilated, 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
Birt-Hogg-Dube syndrome
Pneumothorax, primary spontaneous
Icthyosis vulgaris
Thrombocytopenia, Paris-Trousseau type
Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, Ehlers-Danlos variant
Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
Myopathy, distal, 4
Myopathy, myofibrillar, 5
Hypogonadotropic hypogonadism 21, with or without anosmia
Lymphedema, hereditary I (Milory disease)
Ataxia, posterior column, with retinitis pigmentosa
Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
Mental retardation, autosomal recessive, 47
Trimethylaminuria
Glomerulopathy with fibronectin deposits 2
Cerebral folate deficiency
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
Lymphedema-distichiasis syndrome
Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
Alveolar capillary dysplasia with misalignment of pulmonary veins
Rett syndrome, congenital variant
Congenital heart malformations
Enlarged vestibular aqueduct
Pendred syndrome
Blepharophimosis, epicanthus inversus, and ptosis, type 1
Blepharophimosis, epicanthus inversus, and ptosis, type 2
Premature ovarian failure 3
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Mental retardation with language impairment and autistic features
Speech-language disorder 1
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
Mitochondrial complex I deficiency
Fraser syndrome
Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
Nystagmus, infantile periodic alternating, X-linked
Retinitis pigmentosa 30
Hypogonadotropic hypogonadism 24 without anosmia
Facioscapulohumeral muscular dystrophy 1A
Ovarian hyperstimulation syndrome
Ovarian dysgenesis 1
Glutamate formiminotransferase deficiency
Hemochromatosis, type 5
L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
Growth retardation, developmental delay, and facial dysmorphism
Mental retardation, X-linked 9
Fucosidosis
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
Essential tremor
Bombay phenotype
Para-Bombay phenotype
H-deficient blood group
Reunion variant
Blood group, Lewis
Fucosyltransferase 6 deficiency
Neural tube defects, susceptibility to
Friedreich ataxia
Hypomagnesemia 2, renal
Cataract, autosomal recessive congenital 2
Exudative vitreoretinopathy 1
Retinopathy of prematurity
Nail disorder, nonsyndromic noncongenital 10
Glycogen storage disease Ia
Neutropenia, severe congenital, 4, autosomal recessive
Dursun syndrome
Glucose-6-phosphate dehydrogenase deficiency
Glycogen storage disease II
Epilepsy, juvenile myoclonic, susceptibility to, 5
Epilepsy, childhood absence, susceptibility to, 4
Epileptic encephalopathy, early infantile 19
Epilepsy, childhood absence, susceptibility to, 5
Dravet syndrome
Generalized epilepsy with febrile seizures plus, type 3
Familial febrile seizures 8
Epilepsy, childhood absence, susceptibility to, 2
Cerebral palsy, spastic quadriplegic, 1
Epilepsy, familial temporal lobe, 8
Krabbe disease
Galactose epimerase deficiency
Galactokinase deficiency
Mucopolysaccharidosis IVA (Morquio syndrome A)
Colorectal cancer, susceptibility to, 1
Galactosemia
Guanidinoacetate methyltransferase deficiency
Giant axonal neuropathy 1, autosomal recessive
Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
Holoprosencephaly 4
Ciliary dyskinesia, primary, 33
Thrombocytopenia with beta-thalessemia, X-linked
Anemia, X-linked, without thrombocytopenia
Dyserythropoietic anemia with thrombocytopenia
Immunodeficiency 21
Emberger syndrome
Myelodysplastic syndrome
Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia
Hypoparathyroidism, sensorineural deafness, and renal dysplasia
Atrioventricular septal defect 4
Ventricular septal defect 1
Atrial septal defect 2
Testicular anomalies with or without congenital heart disease
Tetralogy of Fallot
Heart defects, congenital, and other congenital anomalies
Cardiomyopathy, dilated, 2B
Mental retardation, autosomal dominant, 18
Cerebral creatine deficiency syndrome 3
Gaucher disease
Cerebellar ataxia with spasticity, autosomal recessive
Glycogen storage disease IV
Glutaric aciduria, type I
Hyperphenylalaninemia, BH4-deficient, B
Autosomal Recessive Dopa-Responsive Dystonia with or without Hyperphenylalaninemia
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
Diabetes mellitus, permanent neonatal
Hyperinsulinemic hypoglycemia, familial 3
Gamma-glutamylcysteine synthetase deficiency
Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
Transposition of the great arteries, dextro-looped 3
Hereditary hemorrhagic telangiectasia, type 5
Microphthalmia, isolated 7
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 3, autosomal dominant
Coloboma, ocular
Acromesomelic dysplasia, Hunter-Thompson type
Fibular hypoplasia and complex brachydactyly
Multiple synostoses syndrome 2
Chondrodysplasia, Grebe type
Symphalangism, proximal 1B
Brachydactyly, type A1
Brachydactyly, type A1, C
Brachydactyly, type C
Microphthalmia, isolated 4
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
Mental retardation, X-linked 41
Central hypoventilation syndrome
Hirschsprung disease, susceptibility to, 3
Alexander disease
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Neutropenia, severe congenital, 2 autosomal dominant
Neutropenia, nonimmune chronic idiopathic, of adults
Bleeding disorder, platelet-type, 17
Combined oxidative phosphorylation deficiency 1
Myasthenic syndrome, congenital 12
Vitamin K-dependent clotting factors, combined deficiency of, 1
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Isolated growth hormone deficiency, isolated, type IA
Isolated growth hormone deficiency, type 1B
Growth hormone deficiency, isolated, type II
Kowarski syndrome
Growth hormone insensitivity syndrome (Laron syndrome)
Short stature
Intrinsic factor deficiency
Parkinson disease, autosomal dominant, 11
Deafness, autosomal recessive 15
Oculodentodigital dysplasia, autosomal dominant
Cataract 14, multiple types
Atrial fibrillation, familial 11
Progressive familial heart block, type I
Atrial standstill, digenic
Cataract 1, multiple types
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
Deafness, autosomal recessive 1A
Deafness, digenic
Hystrix-like ichthyosis with deafness
Deafness, autosomal dominant 3A
Bart-Pumphrey syndrome
Keratoderma, palmoplantar, with deafness
Vohwinkel syndrome
Keratitis-icthyosis-deafness syndrome
Deafness, autosomal recessive
Deafness, autosomal dominant, with peripheral neuropathy
Deafness digenic
Erythrokeratodermia variabilis et progressiva
Erythrokeratodermia variabilis with erythema gyratum repens
Deafness, autosomal recessive 1B
Lymphedema, hereditary, IC
Spastic paraplegia 44, autosomal recessive
Leukodystrophy, hypomyelinating, 2
Glycerol kinase deficiency
Fabry disease
Fabry disease, cardiac variant
Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
Arthrogryposis, lethal, with anterior horn cell disease
Lethal congenital contracture syndrome 1
Culler-Jones syndrome
Acrocallosal syndrome
Pallister-Hall syndrome
Grieg cephalopolysndactyly syndrome
Postaxial polydactyly type A1
Polydactyly, preaxial, type IV
Polydactyly, postaxial, types A1 and B
Nephronophthisis 7
Diabetes mellitus, neonatal, with congenital hypothyroidism
Glomuvenous malformations
Hyperekplexia, hereditary
Hyperekplexia 2
Anemia, sideroblastic 3, pyridoxine-refractory
Hyperinsulinemic hypoglycemia, familial
Hyperammonemia-hyperinsulinism
Glutamine deficiency, congenital
D-glyceric aciduria
GM2-gangliosidosis, AB variant
Meier-Gorlin syndrome 6
Alacrima, achalasia, and mental retardation syndrome
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14
Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
Auriculocondylar syndrome 1
Primary torsion dystonia
Epileptic encephalopathy, early infantile, 17
Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
Night blindness, congenital stationary, autosomal dominant 3
Night blindness, congenital stationary, autosomal recessive, 1G
Achromatopsia 4
Charcot-Marie-Tooth disease, dominant intermediate F
Sialuria, French type
Nonaka myopathy
Inclusion body myopathy, autosomal recessive
Glycine N-methyltransferase deficiency
Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy)
Mucolipidosis II alpha/beta (I-cell disease)
Mucolipidosis III gamma
Hypogonadotropic hypogonadism 12 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypogonadotropic hypogonadism 23 with or without anosmia
Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
Geroderma osteodysplasticum
Epilepsy, progessive myoclonic 6
Bernard-Soulier syndrome, type A2
Bernard-Soulier syndrome, type A1
Pseudo-von Willebrand disease
Bernard-Soulier syndrome
Giant platelet disorder, isolated
Bleeding disorder, platelet-type, 11
Simpson-Golabi-Behmel syndrome, type 1
Omodysplasia 1
Hypertriglyceridemia, transient infantile
Brugada syndrome 2
Hyperekplexia, autosomal dominant
Molybdenum cofactor deficiency, type C
Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
Hyperlipoproteinemia, type ID
Pituitary adenoma, growth hormone secreting, 2
Nystagmus 6, congenital, X-linked
Ocular albinism, type I
Night blindness, congenital stationary, type 1E
Chorea, childhood-onset, with psychomotor retardation
Chudley-McCullough syndrome
Deafness, autosomal recessive 82
Mental retardation, autosomal recessive 49
Sedaghatian-type spondylometaphyseal dysplasia
Ectodermal dysplasia/short stature syndrome
Hyperoxaluria, primary, type II
Mental retardation, X-linked 94
Spinocerebellar ataxia, autosomal recessive 18
Mental retardation, autosomal recessive 6
Response to antidepressant treatment with citalopram
Mental retardation, autosomal dominant 8
Epilepsy, focal, with speech disorder and with or without mental retardation
Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
Oguchi disease 2
Spinocerebellar ataxia, autosomal recessive 13
Night blindness, congenital stationary, type 1B
Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related
Neuronal ceroid lipofuscinosis 11
Deafness, autosomal recessive 25
Deafness, autosomal recessive 101
Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS)
Amyloidosis, Finnish type
Glutathione synthetase deficiency
Trichothiodystrophy 6, nonphotosensitive
Trichothiodystrophy 3, photosensitive
Combined oxidative phosphorylation deficiency 23
Cone dystrophy 3/Cone-rod dystrophy 14
Retinitis pigmentosa 48
Moyamoya disease 6 with achalasia
Diarrhea 6
Meconium ileus
Cone-rod dystrophy 6
Leber congenital amaurosis, type 1
Cone-Rod dystrophy, autosomal recessive
Mucopolysaccharidosis type VII
Glycogen storage disease XV
Blood group, MN locus
Blood group, Erik
Blood group, Ss
Blood group, Gerbich
Blood group, Webb
Blood group, Duch
Glycogen storage disease, type 0, muscle
Glycogen storage disease, type 0, liver
Wilms tumor 2
Cortisone reductase deficiency
Thyroid cancer, nonmedullary 5
Spastic paraplegia and psychomotor retardation with or without seizures
3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Histidinemia
Hemochromatosis, type 2B
Usher syndrome, type 3B
Perrault syndrome 2
Neutropenia, severe congenital, 3
Alpha-thalassemia (Hemoglobin Bart syndrome)
Alpha-thalassemia (Hemoglobin H disease)
Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
Hereditary persistence of fetal hemoglobin
Cyanosis, transient neonatal
Linear skin defects with multiple congenital anomalies 1 (MIDAS syndrome)
Combined methylmalonic acidemia and hyperhomocysteinemia
Epileptic encephalopathy, early infantile, 24
Brugada syndrome 8
Sick sinus syndrome 2
Narcolepsy 1
Brachydacytly-mental retardation syndrome
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Cornelia de Lange syndrome 3
Tourette's syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
Spondylocostal dysostosis 4, autosomal recessive
Pituitary hormone deficiency, combined
Septooptic dysplasia
Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
Sandhoff disease
Hemochromatosis
Hemochromatosis, type 2A
Premature ovarian failure 9
Alkaptonuria
Deafness, autosomal recessive 39
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)
Retinitis pigmentosa 73
3-hydroxyisobutryl-CoA hydrolase deficiency
Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
Drug-induced toxicity, susceptibility to
Holocarboxylase synthetase deficiency
Hydroxymethylbilane synthase deficiency
Porphyria, acute intermittent
Macular degeneration, age-related, 1
Microphthalmia, syndromic 13
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Statins, efficacy of
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
Heme oxygenase 1 deficiency
Oculoauricular syndrome
Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
Renal cell carcinoma, nonpapillary chromophobe
Congenital hyperinsulinism, diazoxide-responsive
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
