Mendel,MD
Toggle navigation
Upload
Dashboard
1-Click
Tools
Filter Analysis
Family Analysis
Comparison
Browser
Data Query
Docs
Forum
Sign in
+ Filter Options
Main
Variants
Databases
SELECT VARIANTS FROM
EXCLUDE VARIANTS FROM
INDIVIDUALS:
sample 1000
na12878 recessive
exome_4_els var annotated
exome_3_eds var annotated
4501349 filtered
stv2_auto_user_qd5-282-stv2_20170530_435_variantreport
a7kcg_miseq3_nih-1_s1
hc082_s4_l001_r_raw
pid616-variant_table
kuhno_1-10 ip_264_1.variant2
kuhno_1-10 ip_264_2.variant3
kuhno_1-10 none.variant
kuhno_1-10 up_218_1.variant
kuhno_1-10 up_218_2.variant
kuhno_1-10 up_218_3.variant
kuhno_1-10 up_218_4.variant
kuhno_1-10 up_218_5.variant
kuhno_1-10 up_218_6.variant
kuhno_1-10 up_218_8_variants_none.variant
nordenskjold_uwcmg_ah_1 hf final 171270
proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Pesci_M_mother
nordenskjold_uwcmg_ah_1 hf final 171272
nordenskjold_uwcmg_ah_1 hf final 171796
3029
3030
proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob
proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father
5pct_s1-lof
5pct_s1-unified-snp-indle
dnl46897_jcv imported
1313946
tsvc_variants_ionxpress_001
tsvc_variants_ionxpress_002
we_ex1704620
exome_4_els var annotated
genome_ann_shippy_full_20150426064857
73411510240357_annotated
7341maas0357_annotated
genome_mike_maas_v4_full_20170611220637-output
genomapp23a_completereport_20170505
snpsforvep
genome_me_full_20160129125336
paciente_3751_26_mayo_17_26may2017_15_09_01_836
de2670_08232016_bwamem filtered haplotype snpindel
dnn62 snp
dxc01 snp
lfl38 snp
msp09 snp
sp16_multisample SP16_819
sp16_multisample SP16_820
sp16_multisample SP16_961
sp16_819
sp16_961
sp16_820
ba exome
sample_cs2-dmso_recalibrated_variants_snps_only_hard_filtered_snps_only
sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only
trf_44289
8754_onol_s2_vs_onol_n_ucla TUMOR
8754_onol_s2_vs_onol_n_ucla NORMAL
1-p159 final
gird-c1a filtered variants
na12878 dominant
goku_snps_indels
concordancevcf_d5_20161214 GATK-HC_D5
concordancevcf_d5_20161214 Mpileup_D5
concordancevcf_d5_20161214 Pindel_D5
concordancevcf_d5_20161214 FreeBayes_D5
concordancevcf_d5_20161214 VarScan_D5
nk_full_variant_table
kk_full_variant_table
ek_full_variant_table
ldp546
sample 1000
valid-000001933_mtdepth-216 smcounter cut
lb9428 final
vcfbeta-gs000035329-asm
0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc
10 1016j ogc 2015 10
muestra3_s1
muestra2_s1
muestra1_s1
carsonmiller_e4113_h150317_7_mutation_report1-ngs408 10
filter output step4
ngs049p_s3
panvjj_normal_tumor strelka indels gatk annotated NORMAL
panvjj_normal_tumor strelka indels gatk annotated TUMOR
exome_all
54144-mm-ensemble
17nr2143
i26272829p2 hg19_multiannofinal-pacientes-f8765-1-e-f9759-1
manuela_niro
galaxy208-vcfcombine__on_data_201_data_200_and_data_199-1 14cc247
galaxy208-vcfcombine__on_data_201_data_200_and_data_199-1 14cc246
galaxy208-vcfcombine__on_data_201_data_200_and_data_199-1 14cc248
genome_patricia_tachinardi_andrade_silva_v4_full_20170430162109
oje115-001 vqsr all
genome_simone_niciura_v4_full_20170629062030
dipg0076_interval TUMOR
dipg0076_interval NORMAL
gg_mutation_report
ee
grc14378020_exome
grc14378018_exome
grc14378021_exome
grc14378019_exome
grc14378022_exome
family15 variants v3
i29p2-c-18094-iii
h1esc_mtesr1 samtools indel
test
v2649_v1_non-filtered_2017-07-24_10_39_21
v2649_v1_non-filtered_2017-07-24_10_39_21
62393865_s40 mvar 62393865_S40.FREEBAYES
62393865_s40 mvar 62393865_S40.GATK
62393865_s40 mvar 62393865_S40.SAMTOOLS
cmi
ppox
ppox
nextera4_03 03 2017_brca_13_s13_v5
hg001_grch37_giab_highconf_cg-illfb-illgatkhc-ion-10x-solid_chrom1-x_v 3 3 2_highconf_pgandrtgphasetransfer
tsc_27 01 2017_8_s8_v7
tsc_27 01 2017_8_s8_v7
cmt4
larissa_s11
myexome-1
c002_attactcg-tatagcct srt mkdups flt
c003_attactcg-atagaggc srt mkdups flt
c005_attactcg-cctatcct srt mkdups flt
final-ma145
mpe115_v1112
pep_0060
gordonsepilepsy filtered 2076
gordonsepilepsy filtered 2077
gordonsepilepsy filtered 2484
gordonsepilepsy filtered 2486
gordonsepilepsy filtered 2487_pool
gordonsepilepsy normalized 2076
gordonsepilepsy normalized 2077
gordonsepilepsy normalized 2484
gordonsepilepsy normalized 2486
gordonsepilepsy normalized 2487_pool
outputvcforig-sve05k
12ac02301-1_s1 genome
13ac00301-2_s1 genome
15ac02301_s1 genome
15ac02302_s1 genome
15ac02302_s1 genome
15ac02303_s1 genome
2-ac-cap17_s1 genome
15ac02301_s1 genome
15ac02303_s1 genome
15ac02303_s1 genome
16hpc01701_s1 genome
16hpc01702_s1 genome
16hpc01703_s1 genome
15a02301_s1 genome
09pla02101_s1 genome
zehra_acar_variant_analysis_report-2
genome_adam_cuomo_v4_full_20170809151438
sl85 samtools snp
gpp10314_20120828021333_nucseek
gpp10315_20120828021333_nucseek
genome_none_none_v4_full_20170814115900 Aug
genome_none_none_v4_full_20170814115900 14
genome_none_none_v4_full_20170814115900 11:59:00
genome_none_none_v4_full_20170814115900 2017
variant_list
l-322-filtered-snps-indels
16on271_ionxpress_012
eb408_unique
eb409_unique
myexome-1 annotated mendelmd
myexome-1 annotated mendelmd
idash_ishimaki
idp34_annotado
combined sample_100.variant
combined sample_38.variant2
combined sample_39.variant3
combined sample_40.variant4
combined sample_41.variant5
combined sample_42.variant6
combined sample_43.variant7
combined sample_44.variant8
combined sample_45.variant9
combined sample_46.variant10
combined sample_47.variant11
combined sample_48.variant12
combined sample_49.variant13
combined sample_50.variant14
combined sample_51.variant15
combined sample_53.variant16
combined sample_54.variant17
combined sample_55.variant18
combined sample_56.variant19
combined sample_57.variant20
combined sample_59.variant21
combined sample_60.variant22
combined sample_61.variant23
combined sample_62.variant24
combined sample_63.variant25
combined sample_64.variant26
combined sample_66.variant27
combined sample_67.variant28
combined sample_68.variant29
combined sample_69.variant30
combined sample_70.variant31
combined sample_71.variant32
combined sample_72.variant33
combined sample_73.variant34
combined sample_74.variant35
combined sample_91.variant36
combined sample_92.variant37
combined sample_93.variant38
combined sample_94.variant39
combined sample_95.variant40
combined sample_96.variant41
combined sample_97.variant42
combined sample_98.variant43
combined sample_99.variant44
mt2379_s1
fyc5
dna-data-2017-08-27
isabela
g104-1_bowtie2_dupremoved_realigned_v0 1 19mpileup_dummy
anemia
a_kheyri final
pytbv dbsnpa
1445140
46651510241455_annotated
mm170802ap
an035_hg19
allfamilies AWI
allfamilies AWJ
allfamilies AWK
allfamilies AWL
allfamilies AWM
allfamilies BIR
allfamilies BQ0
allfamilies BIP
allfamilies BIQ
fam3 AWI
fam3 AWJ
fam3 AWK
n498_snp_indel_anno
sample13_s1_s1_001_filtered_dp10_splitted
sample14_s2_s2_001_filtered_dp10_splitted
sample15_s3_s3_001_filtered_dp10_splitted
p0085_filtered
variants
refseq_hg38_cds merged symbol igv-capture hist coverage
chu17257-cha-zoe_s2
full_genome
15071143293692125889425
1507114365681-1642853908
genome_tim_dotson_v5_full_20171008065907
genesmarker
mitovcf_file
snps raw-snps 17_0233
snps raw-snps 17_0234
snps raw-snps 17_0235
62408779_s7 mvar 62408779_S7.FREEBAYES
62408779_s7 mvar
62408779_s7 mvar 62408779_S7.GATK
62408779_s7 mvar 62408779_S7.SAMTOOLS
genome_christian_muller_v3_full_20161102032233
genome_christian_muller_v3_full_20161102032233
genome_christian_muller_v3_full_20171011070154 Oct
genome_christian_muller_v3_full_20171011070154 11
genome_christian_muller_v3_full_20171011070154 07:01:54
genome_christian_muller_v3_full_20171011070154 2017
ashksample HG002
ashksample HG003
ashksample HG004
mpileup-final_calls_32716
ioncode_0105_fn25 bam-25 IonCode_0105_FN25.bam
ioncode_0105_fn25 bam-25 [25]
ioncode_0105_fn25 bam-25 (single)
ioncode_0105_fn25 bam-25 (Reads,
ioncode_0105_fn25 bam-25 Locally
ioncode_0105_fn25 bam-25 Realigned,
ioncode_0105_fn25 bam-25 Variants,
ioncode_0105_fn25 bam-25 EXON,
ioncode_0105_fn25 bam-25 AAC,
ioncode_0105_fn25 bam-25 AIFOG)
17-11096s1 germline-multisample gatk annotated 17-11096s1
17-11096s1 germline-multisample gatk annotated 17-11097s2
17-11096s1 germline-multisample gatk annotated 17-11098s1
17-11096s1 germline-multisample gatk annotated 17-11099s1
dossier4-di450-2-b00h4r3_hg19_snp annot
r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872
5500xl_23312002_2013_06_25_exomas16_2h495 processed recal
5500xl_23312002_2013_06_25_exomas16_2h496 processed recal
ca
snps raw-variants selected
snps raw
71161510240931_annotated-4
fakhrieh_salemi gatk snp
fakhrieh_salemi gatk snp
index31
fakhrieh_salemi gatk indel
filter output step3
chh6738_annovar
82937_v1
5840_s17
5516_s23
75_filt_10x
15001702300578a snp-1
qw2315_combined_r1 fastq raw
62388010_s7 mvar 62388010_S7.FREEBAYES
62388010_s7 mvar 62388010_S7.GATK
62388010_s7 mvar 62388010_S7.SAMTOOLS
eb1954_unique
f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1
f1 (paired)
f1 trimmed
f1 (paired)
f1 (Reads)
f1 -
f1 locally
f1 realigned
f1 (Variants,
f1 AAC)
allllllllllllyblswd
pdb336 vep
pdb346 vep
327_c879tanxx_gatagaca_l005 bam filtered vep Protein_position
327_c879tanxx_gatagaca_l005 bam filtered vep Amino_acids
327_c879tanxx_gatagaca_l005 bam filtered vep Codons
327_c879tanxx_gatagaca_l005 bam filtered vep Existing_variation
327_c879tanxx_gatagaca_l005 bam filtered vep Extra
339_c879tanxx_aaggacac_l005 bam filtered vep Protein_position
327_c879tanxx_gatagaca_l005 bam filtered vep Protein_position
pg_merged_chr19 recode PG1
339_c879tanxx_aaggacac_l005 bam filtered vep Amino_acids
327_c879tanxx_gatagaca_l005 bam filtered vep Amino_acids
327_c879tanxx_gatagaca_l005 bam filtered vep Codons
339_c879tanxx_aaggacac_l005 bam filtered vep Codons
339_c879tanxx_aaggacac_l005 bam filtered vep Existing_variation
327_c879tanxx_gatagaca_l005 bam filtered vep Existing_variation
327_c879tanxx_gatagaca_l005 bam filtered vep Extra
339_c879tanxx_aaggacac_l005 bam filtered vep Extra
pg_merged_chr19 recode PG2
pg_merged_chr19 recode PG3
pg_merged_chr19 recode PG4
tz1
tz1
wes_0001 hg19 bwa gatk freebayes combined
fam5 cleaned 3403_16
fam5 cleaned 3404_16
fam5 cleaned 3405_16
fam5 cleaned 3422_16
variants default
variants default
variants default
variants default
cds 3403_16
cds 3404_16
cds 3405_16
cds 3422_16
snps raw-variants selected 3403_16
snps raw-variants selected 3404_16
snps raw-variants selected 3405_16
snps raw-variants selected 3422_16
tsvc_variants_ionxpress_032
24_genetics_snv_99 8 slt
b12
1528098
damold_variant
damold_variant
tumor_sample brca
t30541_annotated_calls
t30541_annotated_calls
tumor_sample brca
nipe_alignment snps
halo_cad_march_17
halo_cad_march_17
mm170835gc
mm171122md
261_emreatak_v1_non-filtered_2016-09-01_06_25_23
upload2ensembl
snps raw MG15-000
snps raw MG15-001
snps raw MG15-002
snps raw SHA-06-33146
watson
sg5_onco_2_s2_v13
rawdata23andme
fam001 NG171210431
fam001 NG171210432
fam001 NG171210433
tsc_7_5_s5_v13
5_s5
5_s5 genome
trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt
trio_parsed_vcf15_03359procol_vcf_report 15_06810matcol
trio_parsed_vcf15_03359procol_vcf_report 15_06811patcol
na12878 recessive
ex-15004
fpd-aix-mes-312-12
fpd-alg-mad-1230-3
jg31048rm_filtered-jrmeena-copy 117543
5517_sorted_hg19
example_snp
er-447_an6 ann hg38_multianno_umd
na12878 compound_heterozygous
552117_ngs_ex
552017_ngs_ex
552217_ngs_ex
annotation final
552217_ngs_ex annotated mendelmd
miller
abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2
mm180101la
mm180104ea
mm180106mm
mm180110lp
mm180111m
mm180112f
1_s1 genome
1_s1
1_s1
2_s2
3_s3
4_s4
hboc12
10049_haplotypecaller_target
hgcat_input_example-3
child2_indexed
ptc-wgs combined vep gnomad
dels
d233
cpt10
33011510240923_annotated
amal-report-2
073_tsvc_variants
046_tsvc_variants
045_tsvc_variants
044_tsvc_variants
043_tsvc_variants
042_tsvc_variants
033_tsvc_variants
031_tsvc_variants
030_tsvc_variants
sm006-1 both
sm007-1 both
sm008-1 both
55001703319634a raw
01pjhc5_s1_l001_r0trimunpaired_cut_fastqc
01pex6c4_s1_indel_filter_end
mm180211ms
aml-1726_v1_non-filtered_2017-02-26_03_51_07
gt_so_4086_igt_1r
index13_otb1697_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift
index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift
index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift
18063
21_s21
nist_integratedcalls_12datasets_130517_hethomvarpass_vqsrv2 15
21_s21 genome
gfg_filtered_unphased_genotypes_vcf
schinzel_giedion
432 varscan snp snpann
mng17-30918-p-lin003-patient-0001-e9504_mutation_report1
n2_s17
tsvc_variants_ionxpress_001
tsvc_variants_ionxpress_004
lanjinglingc2017103103501 mkdup sorted genotypegvcf
mmg003343
hodakb10_snp_indel_anno
hodakb12_snp_indel_anno
hodakt10_snp_indel_anno
hodakt12_snp_indel_anno
patient ann filtered
62334902_s25-161111_k00359_0038_bhg532bbxx-normal-illuwes-4f0ca40f-mvar
62334902_s25-161111_k00359_0038_bhg532bbxx-normal-illuwes-4f0ca40f-mvar
mp91583 both
ancestrydna
el-exome_s1
tsvc_variants_ionxpress_001-5225
9040 snpeff high
9040 cleaned_snpindel
9040 snpeff moderate
ex_013_mod
94533-0209701724_ms_onbait
promethease-1
71161510240931_annotated-4
hsp116-ii-1-filtered_variants
annovar hg19_multianno_pass
miller snpeff
s308
s315_9
248419675_annotated
test
variants
tsvc_variants_ionxpress_002-4
tsvc_variants_ionxpress_002-4
annotation final
ex
ex-sf
tsvc_variants_ionxpress_040
ap253-3 final
aaa
acacia
filtered
scz009_trimmed samtools
dnl109758_dez imputed
output 09_chr1 fa filtered3
45655-cr-ensemble
galaxy103-varscan_on_data_102
test
m1_rms1_10
m1_rms1_1
m1_rms1_11
m1_rms1_12
m1_rms1_14
m1_rms1_15
m1_rms1_13
m1_rms1_16
m1_rms1_17
m1_rms1_18
m1_rms1_19
m1_rms1_3
m1_rms1_2
m1_rms1_5
m1_rms1_4
m1_rms1_6
m1_rms1_7
m1_rms1_8
m1_rms1_9
mm180725at
mm180706dm
img-20181008-wa0006
tcga-bf-a1pu-01a-11d-a19a-08
pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32
breast1 1
sample1
mo-mi-abdi1130 final
u697_bwa_picard
164649418_s1 ann select dbsnp
na12877-rep1_s1
na12877-rep1_s1
f txt
f
2-fl-ha_482-01
miller
ctr0100487_mex076_alain_mancinas_201814015100_pass
bra19324freebayes
traning-sample-vcf-file
lapatrada pol indel
22603_s43
22603_s55
ns1-6
ns1-5 final
ns2-5 filtered variants
ns2-10 final
ns4-4
ns4-5
ns4-6
sama-karam_s1
copy-of-pof-ii-1-filtered-snps-indels-query output genome_summary
hsp108-ii-1-filtered_variants
2636_s28
2761_s29
4450_s11
6306_s1
6343_s27
6422_s23
6424_s25
6426_s21
12016_s26
12030_s5
12061_s9
12066_s20
12067_s13
12068_s19
12078_s17
12083_s14
12086_s22
12092_s33
12107_s6
16420_s8
16431_s7
16441_s18
17503_s31
17507_s32
2632_s12
sy-51_s2
sy-52_s3
2632_s12
2632_s12
jp5186_chip
32
na12878 dominant
miller
filtered_merged_a00k
rm-274 final
pm-286 final
diu946-001_results_diu946-001 final
shr
genome_jeffrey_bloom_v5_full_20190110052330
genome_jeffrey_bloom_v5_full_20190110052330
ht12d final
gatk f008 reheader
father
sec-2-18-7_filtered
sample_file
wanguard_s1
cdh6-52
full_combined_excel
miller
my var-final
62455815_s29 mvar
tsvc_variants_ionxpress_002
59876-as-ensemble
59876-as-ensemble
rf3717
56001801068581a snp
56001801066395a snp
56001801066395a indel
fmsd_filtered_snp_indel
180919fr-013-1
tsvc_variants_ioncode_0249
37-g0191 raw_variants
mr
mr
wes 6160 filtered recode
1886106_bak chr20
genome_susan_abernathy_v4_full_20190218171918
drift-nimh_freeze2_brmenn
9etks0122_annotation
17on508_ioncode_0113
a-full_variant_table
gm12878
hd829_190221_nb551050_0207_ahvwygbgx9 germline
solo_-a-star-wars-story-trailer
ctr0100514_mex083_jonathan_resendiz_20190502090400_pass
ctr0100502_mex079_amisaday_mora_20190330015800
200567_mutation_report1_filtered
qmul_trio_lof_assignment_2019
sample_hardfiltered
trio2 snpeff canon annotated exons dhg21091-v
trio2 snpeff canon annotated exons dhg21610-v
trio2 snpeff canon annotated exons dhg21611-v
8wkyncwo
8wkyncwo
mm160117hb v200
skaz004 gatk snp
porto_final_annot intervar_annovar
53586-full_variant_table
53586-full_variant_table
dna-data-2019-03-03
60820188484921_wgz snp-4
gi-variants-passed-homoz
wes_0012 hg38
rcl1126
wt108005 snp
wt108005fu0 snp
wt108005mu0 snp
mm190528hvp
mm190623opd
myexome
54871510242650_annotated-2
aghdas_dehghani qualified
plink
filtered4
filtered2
filtered5
filtered6
mpileup-final_calls_arg_046
111
p001_fim
xah
2_s2
kemikp79
h8m mutect2
001 final
60820188472738 snp
allsamples as snp_indel_pass_annotated
h7 indel_final
h11 snp_final
ashwath_ramji_slb567__wes_annotated_vcf
60820188484090 snp
56001808052608_wgz sv
f70
mr50 2
60820188481224 snp
60820188481224 indel1
yushu_s1 hg19_multianno
lh-2005601_umi hg19_multianno
pcg-f60 allchr snpeff p sal sal10_1 clinvar candidate_genes_tagged
genom_v5_full_20190304173844
144336383-full
144336383-full
moss final
62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass
mmcs-209a
trio 2010_06 ychr sites-v2
trio 2010_06 ychr sites-v2
trio 2010_06 ychr sites-v2
file
tsvc_variants_ionxpress_006
f204-1528-proband
f204-1533-proband2
f204-1533-proband2
f204-1533-proband2
cp00040635 filtered indel
cp00040635 filtered snp
s216 g
6-na1287 both
00126 vep
demo1
60820188477917 filtered snp
f000043987_dp5_tag
2019_09_14t01_36_55z_suma_ionxpress_003
azm002
19508-01-01_s2
mm005
bm011
193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps
dg001 final
83356 33710_s2 smcounter anno
07-ms_s7 filtered vt snps indels annotated hg19_multianno
08-dh_s8 filtered vt snps indels annotated hg19_multianno
09-gf_s9 filtered vt snps indels annotated hg19_multianno
06t10508_snvintersect
95t14234_snvintersect
hht25
60820188482844 cnv
galaxy4-vcfselectsamples__on_data_1
62644690_s62 hpcl fboth pass
62644690_s62 bcfc filt pass
drift-nimh snps indels vqsr qced
62644690_s62 hpcl fboth pass
62644690_s62 bcfc filt pass
chan_pitt final
leila somatic
43_s43
44_s44
30_s30
nunez_a-2
variants selected
variants selected
liw
liw
nba852-001 variants
selected variants chr6
selected variants chr6
1351s
1352s
1353s
genome_aaron_hill_v3_full_20191101162607
skeletal
vqsr_snp_indel hc recaled
out
fomiga
94310feb
94410feb
718
chnaka
udp2568_axeq_1_hs37d5_remdup-uniqmap
udp5436_axeq_1_hs37d5_remdup-uniqmap
udp2569_axeq_1_hs37d5_remdup-uniqmap
udp2570_axeq_1_hs37d5_remdup-uniqmap
udp5435_axeq_1_hs37d5_remdup-uniqmap
udp2568_axeq_1_hs37d5_remdup-uniqmap
udp5436_axeq_1_hs37d5_remdup-uniqmap
udp2569_axeq_1_hs37d5_remdup-uniqmap
udp2570_axeq_1_hs37d5_remdup-uniqmap
sleepdisorders_saxena_sleep_exome_
funcotator_output
pjgl final
s75952_filtered_snps_and_indels
s75952_filtered_snps_and_indels
gen_coords_2546da25
gen_coords_4297ccf5
gen_coords_e4ad64d7
gen_coords_2546da25
gen_coords_2a24f493
20191018_null_jozsefpocsai_1_vcf
alves-daniel
ibg-2-cgm-0130 final
20041952_fiebersyndrome
axiomgt1 calls
136
914
914
dk31-akp-run025
wes413_annotated hg19_multianno
20159-01-01_s13-kopie
20160-01-01_s14-kopie
20160-02-01_s15-kopie
20161-01-01_s16-kopie
20162-01-01_s17-kopie
20163-01-01_s18-kopie
20165-01-01_s19-kopie
20166-01-01_s20-kopie
20167-01-01_s21-kopie
20168-01-01_s22-kopie
sano-converted-xao3oovlc7fnhcwi
60820188481023_wgz sv
nb26r3b7-vcf
nb26r3b7
nb26r3b7-vcf
ca-full_variant_table
df-full_variant_table
il-full_variant_table
le-full_variant_table
p767-full_variant_table
pa883-full_variant_table
p545-full_variant_table
p38bis-full_variant_table
2-pd
15_s15
17_s17
18_s18
mm200519jpm
mm200520lff
002-64854-300-scex
vep
haplotypecaller normalized sort
60820188477428 filtered snp
metin-yusa-ezelsoy
tsonexp104
na12878 recessive
f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered
1jzxjfqlmt6b6sjn
sg8_171109_m03874_0051_000000000-bc4b6_osteo_7_s7_v13
2388
2388_2
mm200704jip pass
mm200801fps
mm200802avc
mm200803lca
pa_1_filt_10x
pa_2_filt_10x
pa_2_filt_10x
pa_3_filt_10x
pa_4_filt_10x
tsvc_variants_ionxpress_032
tsvc_variants_ionxpress_029
tsvc_variants_ionxpress_028
tsvc_variants_ionxpress_027
christinas-dna-raw-data
christinas-dna-raw-data
f06400419-ib-ex-34-1651-narges-nikzad-x-7d5-orion-ilya-1_s17 soft_filtered-1
257_mg_v1
ancestrydna
h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered
g06400841-ib-ex-60-1790-lia-amanlo-x_s18 soft_filtered
h06400082-ib-ex-60-1795_s23 soft_filtered
g06400842-ib-ex-60-1791_s19 soft_filtered
h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered
rbna2s annoted
mm200818ekc pass
60820188476706_wgz snp
60820188477428 filtered snp
60820188477428 filtered indel
mt9975_s20b_raw_onlyvariants
nb4y474q
chr1_tb
chrx_tb
f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered
62716307_s105-200325_a00853_0090_bhnncndmxx-normal-illuwestwist-c50063e5-mvar
56001801068832b_wgz indel
56001801068832b_wgz snp
i06400152-ib-ex-60-1844-ehsan-ilya-biotech-orion-raw-data-9-ilya-biotech-4_s237 soft_filtered
data_trios
child filtered_variants
father filtered_variants
mother filtered_variants
raha-nazari
i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered
2039528
cypcyp_20170119
lf7070
4k20002_01 gatk
myheritage_raw_dna_data
inbound8305150685853676453
42171
42440
94231510241520_annotated
lscsousa-37862-convertido
db-142035-19648
62792253_s65 bcfc filt pass
li29247
dnl435773_hfn
mm2
genome_benjamin_beeler_v5_full_20201120080226
genome_benjamin_beeler_v5_full_20201120080226
mn1_1_dkdn200006670-1a_hhwwtdsxy_filt_10x
dnaroberta
vcf2
s2421nr2_snvs
2020-005022-full_variant_table
k06401019-ib-ex-60-2014-fateme-pour-orion-raw-data-ilya-biotech_s3 soft_filtered
1351s
1352s
1353s
1352s
1351s
dnl415328_mwu
premaidha_pandita
8_s8
casescomb_anno_nochr vep
controlcomb_anno_vep
013 final
013 final
a1 mutect somatic snv mm10_multianno
a2 mutect somatic snv mm10_multianno
a3 mutect somatic snv mm10_multianno
a4 mutect somatic snv mm10_multianno
a5 mutect somatic snv mm10_multianno
mm210202rsv
mm210206egs
mm210202rsv
example-4 1-bnd
55101705103716_annotated
15001711234580a snp
merged_pe_ann-1
galaxy43-snpeff_eff__on_data_37
60820188472777 cnv
xyk885-001
galaxy6-vcffilter__3022nr6
galaxy6-vcffilter_3022nr4
galaxy7-vcffilter_3022nr8
galaxy7-vcffilter__3022nr7
galaxy36-vcffilter__3466nr4
galaxy7-vcffilter__3466nr40
a
hocanf12689796 cnvnator filter reheader
schinzel_giedion
galaxy7-vcffilter__3466nr3
galaxy7-vcffilter__3466nr4
galaxy7-vcffilter__3466nr40
galaxy7-vcffilter__3466nr42
dados_brutos_saude
dna
20tes0779_fb
frasc37
15001711232689a snp
04-cn_s4
etb21-ktww
genome
wes08-paw final
10200154963-unkown-ib-ex-60-2156-amirreza-safavi-orion-raw-data-9d375-1_s67 soft_filtered
ng11yhb2uc
104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered
smallvariants filtered
m21 14_15b68a
file
dados_brutos_saude
galaxy8-vcffilter_3910nr1
c1-bcemep2073 snp indel excludeflt grch38
p1-bcemep2058 snp indel excludeflt grch38
c1-bcemep2073 snp indel excludeflt grch38
p1-bcemep2058 snp indel excludeflt grch38
ngs_variants
sample202111_ merge
fls_f1
fls_f1
abdelali_rgd43_1_s22_qualfilter2
89896
mm210618mmm
mm210618mmm
1_1-200000_1234n
62466786_s45 mvar
62466786_s45 mvar
filter output step1
468f2at-raw_hg19
dados_brutos_saude
snp_m4n4
ztc634-001 cnv grch38
ztc634-001 variants grch38
riya_final_variants
rajesh_father_final_variants
riya_sister_final_variants
sweety_das_mother_final_variants
hervkucsc final_compsc12
hervkucsc final_compsc13
hervkucsc final_compsc15
hervkucsc final_compsc16
hervkucsc final_compsc17
hervkucsc final_compsc18
hervkucsc final_compsc21
hervkucsc final_compsc22
hervkucsc final_compsc23
hervkucsc final_compsc24
hervkucsc final_compsc25
hervkucsc final_compsc26
hervkucsc final_compsc27
hervkucsc final_compsc28
hervkucsc final_compsc29
hervkucsc final_compsc30
hervkucsc final_compsc8
hervkucsc final_compsc10
hervkucsc final_compsc11
hervkucsc final_compsc9
hervkucsc final_compsc7
hervkucsc final_compsc2
hervkucsc final_compsc4
hervkucsc final_comp31
haplotypecaller_300_21
sl476778 qc recode
mm210921mll
vcffilter4321nr2
vcffilter4321nr1
c82258b6-cab8-419f-9847-26d3cb04de6c
gowrish_ghosh_7071491
lmivty4833qdq7qw
mk265 final
mk264 final
mk266 final
mk268 final
mk267 final
mm211102rsf
srr8898194
pai-convertido
genera-pai-dados-brutos
23andme
patient
lofreq1-annotation
meu-dna-convertido-v5
f83-1371_s1
f83-980_s1
f83-981_s1
test
test
15001710502500a snp
15001710502500a indel
tw-001-300447370701 hard-filtered
tw-001-300447370801 hard-filtered
tw-001-300447370901 hard-filtered
tw-001-300447371001 hard-filtered
pfeiffer-singleton
igb85_p_baserecal_precalread_varcall g
garrettgeminiuc-ng1kmmceb1-30x-wgs-sequencing_com-10-12-21 mito
eticket_ven014_12191851_1
wes018-ban final
wild final
15001711234580a snp
galaxy396-snpeff_eff__on_data_20_and_data_390
galaxy413-snpeff_eff__on_data_20_and_data_412
test
vars_mtec_s13
readme
153751
tm-001-300470609201_sample-4 hard-filtered
multisample final
all annotation 21
148225_eymennacar_93_final
sec5
galaxy13-vcffilter__on_data_11
myheritage_raw_dna_data
genome_kristen_hiser_v5_full_202204271056061
1ng1gd5leyg-1
output
output
documento-de-eunice
tm-001-300484487501-r1 hard-filtered
tm-001-300484487601 hard-filtered
ngs-5_s2
tw-001-300447371501 hard-filtered
tw-001-300458116301 hard-filtered-2
tm-001-300484487801 hard-filtered
mn1_1_dkdn200006670-1a_hhwwtdsxy_filt_10x
mn1_1_dkdn200006670-1a_hhwwtdsxy_filt_10x
bac931-001 variants grch38_
my_protein_filter_vep
drr006760 haplotypecaller
s65_cosmic_annovar hg38_multianno hg38_multianno
s96_cosmic_annovar hg38_multianno hg38_multianno
hsm03
paolo_maccallini_snp
paolo_maccallini_indel
tomkooy-ng1k4katmj-30x-wgs-sequencing_com-09-09-22 snp-indel genome
15001710502500a snp
na12878 compound_heterozygous
na12878 compound_heterozygous
na12878 compound_heterozygous
kemik154
2765 filtered indel
2765 filtered snp
rawdataoriginal
upj-1_annotation
gen1
63084816_s277 hpcl fboth pass
dados_brutos_423_saude
dados_brutos-fer_212_saude
liblalt53_variants funcotatedb37
ng1hpy2syw1
s_25_17 haplotypecaller filtered
damb121 variants
galaxy94-snpeff_eff__dt-sc1_filtered___100
test
test
variants_1132761_1003714
exome_tobias_qualls_7875dc_e9i96r
epf23-lugp final
mk266 final
mk265 final
mk264 final
mk268 final
mk267 final
freebayes-on-259-variants
br_2009 hard-filtered
88_1_4113063-4113122_fullgenome
88_1_4113063-4113122_fullgenome
sis-3299335378-52-a3-0222-full_variant_table
1-ng10uyr74p-30x-wgs-sequencing_com-01-16-24 snp-indel genome
leftfiltered
leftfiltered
wd_h final
lis_hg19 filt
62951226_s22 bcfc filt pass
62951226_s22 bcfc filt pass
63239608_s186 hpcl fboth pass_2
anotado
SNP LIST:
GROUPS:
3029
3030
test
LG_GGB_20171101
SAVED GENE LIST:
93 genes
A
A
Ataxia
Atypical Hemolytic-Uremic Syndrome
CGH_AR
Childhood Renal panel
chronic nephrotic
CK
comprehensive kidny
Comprehensive Neuromuscular Disorders Panel
Congenital Disorders of Glycosylation Panel
Deb
DEB.ING
Dermatology Gene Panel
Diabetes
Ehler D
Epidermolysis Bullosa 2
Epidermolysis Bullosa Panel
epilepsy
Facial Dysostosis Panel
fanconi
Genes Got Time
HLA
HUS
Hypokalemia and Related Disorders Panel
Ichthyosis
ichthyosis2
ichthyosis3
immunodeficincy
jr
mayoclinic PN
metabolic
Mody
musclat dystrophy
Nada autosomal ressicev
nephrolithiasis
Nephrotic
Neurofibromatosis
Neuropathies
Neuropathies2
Neuropathies 3
ostiopetrosis
perxosomal
primary immunodef
Retinal Dystrophy
SEMD2
Skin and Connective Tissue Disorders Panel
SMED
Spastic Paraplegia
Spinal Muscular Atrophy
Stickler
thrompocytopenia
Treacher Collins syndrome
Treacher Collins syndrome2
white matter disorder
GENE LIST:
INDIVIDUALS:
sample 1000
na12878 recessive
exome_4_els var annotated
exome_3_eds var annotated
4501349 filtered
stv2_auto_user_qd5-282-stv2_20170530_435_variantreport
a7kcg_miseq3_nih-1_s1
hc082_s4_l001_r_raw
pid616-variant_table
kuhno_1-10 ip_264_1.variant2
kuhno_1-10 ip_264_2.variant3
kuhno_1-10 none.variant
kuhno_1-10 up_218_1.variant
kuhno_1-10 up_218_2.variant
kuhno_1-10 up_218_3.variant
kuhno_1-10 up_218_4.variant
kuhno_1-10 up_218_5.variant
kuhno_1-10 up_218_6.variant
kuhno_1-10 up_218_8_variants_none.variant
nordenskjold_uwcmg_ah_1 hf final 171270
proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Pesci_M_mother
nordenskjold_uwcmg_ah_1 hf final 171272
nordenskjold_uwcmg_ah_1 hf final 171796
3029
3030
proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob
proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father
5pct_s1-lof
5pct_s1-unified-snp-indle
dnl46897_jcv imported
1313946
tsvc_variants_ionxpress_001
tsvc_variants_ionxpress_002
we_ex1704620
exome_4_els var annotated
genome_ann_shippy_full_20150426064857
73411510240357_annotated
7341maas0357_annotated
genome_mike_maas_v4_full_20170611220637-output
genomapp23a_completereport_20170505
snpsforvep
genome_me_full_20160129125336
paciente_3751_26_mayo_17_26may2017_15_09_01_836
de2670_08232016_bwamem filtered haplotype snpindel
dnn62 snp
dxc01 snp
lfl38 snp
msp09 snp
sp16_multisample SP16_819
sp16_multisample SP16_820
sp16_multisample SP16_961
sp16_819
sp16_961
sp16_820
ba exome
sample_cs2-dmso_recalibrated_variants_snps_only_hard_filtered_snps_only
sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only
trf_44289
8754_onol_s2_vs_onol_n_ucla TUMOR
8754_onol_s2_vs_onol_n_ucla NORMAL
1-p159 final
gird-c1a filtered variants
na12878 dominant
goku_snps_indels
concordancevcf_d5_20161214 GATK-HC_D5
concordancevcf_d5_20161214 Mpileup_D5
concordancevcf_d5_20161214 Pindel_D5
concordancevcf_d5_20161214 FreeBayes_D5
concordancevcf_d5_20161214 VarScan_D5
nk_full_variant_table
kk_full_variant_table
ek_full_variant_table
ldp546
sample 1000
valid-000001933_mtdepth-216 smcounter cut
lb9428 final
vcfbeta-gs000035329-asm
0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc
10 1016j ogc 2015 10
muestra3_s1
muestra2_s1
muestra1_s1
carsonmiller_e4113_h150317_7_mutation_report1-ngs408 10
filter output step4
ngs049p_s3
panvjj_normal_tumor strelka indels gatk annotated NORMAL
panvjj_normal_tumor strelka indels gatk annotated TUMOR
exome_all
54144-mm-ensemble
17nr2143
i26272829p2 hg19_multiannofinal-pacientes-f8765-1-e-f9759-1
manuela_niro
galaxy208-vcfcombine__on_data_201_data_200_and_data_199-1 14cc247
galaxy208-vcfcombine__on_data_201_data_200_and_data_199-1 14cc246
galaxy208-vcfcombine__on_data_201_data_200_and_data_199-1 14cc248
genome_patricia_tachinardi_andrade_silva_v4_full_20170430162109
oje115-001 vqsr all
genome_simone_niciura_v4_full_20170629062030
dipg0076_interval TUMOR
dipg0076_interval NORMAL
gg_mutation_report
ee
grc14378020_exome
grc14378018_exome
grc14378021_exome
grc14378019_exome
grc14378022_exome
family15 variants v3
i29p2-c-18094-iii
h1esc_mtesr1 samtools indel
test
v2649_v1_non-filtered_2017-07-24_10_39_21
v2649_v1_non-filtered_2017-07-24_10_39_21
62393865_s40 mvar 62393865_S40.FREEBAYES
62393865_s40 mvar 62393865_S40.GATK
62393865_s40 mvar 62393865_S40.SAMTOOLS
cmi
ppox
ppox
nextera4_03 03 2017_brca_13_s13_v5
hg001_grch37_giab_highconf_cg-illfb-illgatkhc-ion-10x-solid_chrom1-x_v 3 3 2_highconf_pgandrtgphasetransfer
tsc_27 01 2017_8_s8_v7
tsc_27 01 2017_8_s8_v7
cmt4
larissa_s11
myexome-1
c002_attactcg-tatagcct srt mkdups flt
c003_attactcg-atagaggc srt mkdups flt
c005_attactcg-cctatcct srt mkdups flt
final-ma145
mpe115_v1112
pep_0060
gordonsepilepsy filtered 2076
gordonsepilepsy filtered 2077
gordonsepilepsy filtered 2484
gordonsepilepsy filtered 2486
gordonsepilepsy filtered 2487_pool
gordonsepilepsy normalized 2076
gordonsepilepsy normalized 2077
gordonsepilepsy normalized 2484
gordonsepilepsy normalized 2486
gordonsepilepsy normalized 2487_pool
outputvcforig-sve05k
12ac02301-1_s1 genome
13ac00301-2_s1 genome
15ac02301_s1 genome
15ac02302_s1 genome
15ac02302_s1 genome
15ac02303_s1 genome
2-ac-cap17_s1 genome
15ac02301_s1 genome
15ac02303_s1 genome
15ac02303_s1 genome
16hpc01701_s1 genome
16hpc01702_s1 genome
16hpc01703_s1 genome
15a02301_s1 genome
09pla02101_s1 genome
zehra_acar_variant_analysis_report-2
genome_adam_cuomo_v4_full_20170809151438
sl85 samtools snp
gpp10314_20120828021333_nucseek
gpp10315_20120828021333_nucseek
genome_none_none_v4_full_20170814115900 Aug
genome_none_none_v4_full_20170814115900 14
genome_none_none_v4_full_20170814115900 11:59:00
genome_none_none_v4_full_20170814115900 2017
variant_list
l-322-filtered-snps-indels
16on271_ionxpress_012
eb408_unique
eb409_unique
myexome-1 annotated mendelmd
myexome-1 annotated mendelmd
idash_ishimaki
idp34_annotado
combined sample_100.variant
combined sample_38.variant2
combined sample_39.variant3
combined sample_40.variant4
combined sample_41.variant5
combined sample_42.variant6
combined sample_43.variant7
combined sample_44.variant8
combined sample_45.variant9
combined sample_46.variant10
combined sample_47.variant11
combined sample_48.variant12
combined sample_49.variant13
combined sample_50.variant14
combined sample_51.variant15
combined sample_53.variant16
combined sample_54.variant17
combined sample_55.variant18
combined sample_56.variant19
combined sample_57.variant20
combined sample_59.variant21
combined sample_60.variant22
combined sample_61.variant23
combined sample_62.variant24
combined sample_63.variant25
combined sample_64.variant26
combined sample_66.variant27
combined sample_67.variant28
combined sample_68.variant29
combined sample_69.variant30
combined sample_70.variant31
combined sample_71.variant32
combined sample_72.variant33
combined sample_73.variant34
combined sample_74.variant35
combined sample_91.variant36
combined sample_92.variant37
combined sample_93.variant38
combined sample_94.variant39
combined sample_95.variant40
combined sample_96.variant41
combined sample_97.variant42
combined sample_98.variant43
combined sample_99.variant44
mt2379_s1
fyc5
dna-data-2017-08-27
isabela
g104-1_bowtie2_dupremoved_realigned_v0 1 19mpileup_dummy
anemia
a_kheyri final
pytbv dbsnpa
1445140
46651510241455_annotated
mm170802ap
an035_hg19
allfamilies AWI
allfamilies AWJ
allfamilies AWK
allfamilies AWL
allfamilies AWM
allfamilies BIR
allfamilies BQ0
allfamilies BIP
allfamilies BIQ
fam3 AWI
fam3 AWJ
fam3 AWK
n498_snp_indel_anno
sample13_s1_s1_001_filtered_dp10_splitted
sample14_s2_s2_001_filtered_dp10_splitted
sample15_s3_s3_001_filtered_dp10_splitted
p0085_filtered
variants
refseq_hg38_cds merged symbol igv-capture hist coverage
chu17257-cha-zoe_s2
full_genome
15071143293692125889425
1507114365681-1642853908
genome_tim_dotson_v5_full_20171008065907
genesmarker
mitovcf_file
snps raw-snps 17_0233
snps raw-snps 17_0234
snps raw-snps 17_0235
62408779_s7 mvar 62408779_S7.FREEBAYES
62408779_s7 mvar
62408779_s7 mvar 62408779_S7.GATK
62408779_s7 mvar 62408779_S7.SAMTOOLS
genome_christian_muller_v3_full_20161102032233
genome_christian_muller_v3_full_20161102032233
genome_christian_muller_v3_full_20171011070154 Oct
genome_christian_muller_v3_full_20171011070154 11
genome_christian_muller_v3_full_20171011070154 07:01:54
genome_christian_muller_v3_full_20171011070154 2017
ashksample HG002
ashksample HG003
ashksample HG004
mpileup-final_calls_32716
ioncode_0105_fn25 bam-25 IonCode_0105_FN25.bam
ioncode_0105_fn25 bam-25 [25]
ioncode_0105_fn25 bam-25 (single)
ioncode_0105_fn25 bam-25 (Reads,
ioncode_0105_fn25 bam-25 Locally
ioncode_0105_fn25 bam-25 Realigned,
ioncode_0105_fn25 bam-25 Variants,
ioncode_0105_fn25 bam-25 EXON,
ioncode_0105_fn25 bam-25 AAC,
ioncode_0105_fn25 bam-25 AIFOG)
17-11096s1 germline-multisample gatk annotated 17-11096s1
17-11096s1 germline-multisample gatk annotated 17-11097s2
17-11096s1 germline-multisample gatk annotated 17-11098s1
17-11096s1 germline-multisample gatk annotated 17-11099s1
dossier4-di450-2-b00h4r3_hg19_snp annot
r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872
5500xl_23312002_2013_06_25_exomas16_2h495 processed recal
5500xl_23312002_2013_06_25_exomas16_2h496 processed recal
ca
snps raw-variants selected
snps raw
71161510240931_annotated-4
fakhrieh_salemi gatk snp
fakhrieh_salemi gatk snp
index31
fakhrieh_salemi gatk indel
filter output step3
chh6738_annovar
82937_v1
5840_s17
5516_s23
75_filt_10x
15001702300578a snp-1
qw2315_combined_r1 fastq raw
62388010_s7 mvar 62388010_S7.FREEBAYES
62388010_s7 mvar 62388010_S7.GATK
62388010_s7 mvar 62388010_S7.SAMTOOLS
eb1954_unique
f1 H02H9ALXX_1_F01_K0512P_Human_NoIndex_2-25348_Spuler_Lab_R1
f1 (paired)
f1 trimmed
f1 (paired)
f1 (Reads)
f1 -
f1 locally
f1 realigned
f1 (Variants,
f1 AAC)
allllllllllllyblswd
pdb336 vep
pdb346 vep
327_c879tanxx_gatagaca_l005 bam filtered vep Protein_position
327_c879tanxx_gatagaca_l005 bam filtered vep Amino_acids
327_c879tanxx_gatagaca_l005 bam filtered vep Codons
327_c879tanxx_gatagaca_l005 bam filtered vep Existing_variation
327_c879tanxx_gatagaca_l005 bam filtered vep Extra
339_c879tanxx_aaggacac_l005 bam filtered vep Protein_position
327_c879tanxx_gatagaca_l005 bam filtered vep Protein_position
pg_merged_chr19 recode PG1
339_c879tanxx_aaggacac_l005 bam filtered vep Amino_acids
327_c879tanxx_gatagaca_l005 bam filtered vep Amino_acids
327_c879tanxx_gatagaca_l005 bam filtered vep Codons
339_c879tanxx_aaggacac_l005 bam filtered vep Codons
339_c879tanxx_aaggacac_l005 bam filtered vep Existing_variation
327_c879tanxx_gatagaca_l005 bam filtered vep Existing_variation
327_c879tanxx_gatagaca_l005 bam filtered vep Extra
339_c879tanxx_aaggacac_l005 bam filtered vep Extra
pg_merged_chr19 recode PG2
pg_merged_chr19 recode PG3
pg_merged_chr19 recode PG4
tz1
tz1
wes_0001 hg19 bwa gatk freebayes combined
fam5 cleaned 3403_16
fam5 cleaned 3404_16
fam5 cleaned 3405_16
fam5 cleaned 3422_16
variants default
variants default
variants default
variants default
cds 3403_16
cds 3404_16
cds 3405_16
cds 3422_16
snps raw-variants selected 3403_16
snps raw-variants selected 3404_16
snps raw-variants selected 3405_16
snps raw-variants selected 3422_16
tsvc_variants_ionxpress_032
24_genetics_snv_99 8 slt
b12
1528098
damold_variant
damold_variant
tumor_sample brca
t30541_annotated_calls
t30541_annotated_calls
tumor_sample brca
nipe_alignment snps
halo_cad_march_17
halo_cad_march_17
mm170835gc
mm171122md
261_emreatak_v1_non-filtered_2016-09-01_06_25_23
upload2ensembl
snps raw MG15-000
snps raw MG15-001
snps raw MG15-002
snps raw SHA-06-33146
watson
sg5_onco_2_s2_v13
rawdata23andme
fam001 NG171210431
fam001 NG171210432
fam001 NG171210433
tsc_7_5_s5_v13
5_s5
5_s5 genome
trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt
trio_parsed_vcf15_03359procol_vcf_report 15_06810matcol
trio_parsed_vcf15_03359procol_vcf_report 15_06811patcol
na12878 recessive
ex-15004
fpd-aix-mes-312-12
fpd-alg-mad-1230-3
jg31048rm_filtered-jrmeena-copy 117543
5517_sorted_hg19
example_snp
er-447_an6 ann hg38_multianno_umd
na12878 compound_heterozygous
552117_ngs_ex
552017_ngs_ex
552217_ngs_ex
annotation final
552217_ngs_ex annotated mendelmd
miller
abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2
mm180101la
mm180104ea
mm180106mm
mm180110lp
mm180111m
mm180112f
1_s1 genome
1_s1
1_s1
2_s2
3_s3
4_s4
hboc12
10049_haplotypecaller_target
hgcat_input_example-3
child2_indexed
ptc-wgs combined vep gnomad
dels
d233
cpt10
33011510240923_annotated
amal-report-2
073_tsvc_variants
046_tsvc_variants
045_tsvc_variants
044_tsvc_variants
043_tsvc_variants
042_tsvc_variants
033_tsvc_variants
031_tsvc_variants
030_tsvc_variants
sm006-1 both
sm007-1 both
sm008-1 both
55001703319634a raw
01pjhc5_s1_l001_r0trimunpaired_cut_fastqc
01pex6c4_s1_indel_filter_end
mm180211ms
aml-1726_v1_non-filtered_2017-02-26_03_51_07
gt_so_4086_igt_1r
index13_otb1697_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift
index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift
index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift
18063
21_s21
nist_integratedcalls_12datasets_130517_hethomvarpass_vqsrv2 15
21_s21 genome
gfg_filtered_unphased_genotypes_vcf
schinzel_giedion
432 varscan snp snpann
mng17-30918-p-lin003-patient-0001-e9504_mutation_report1
n2_s17
tsvc_variants_ionxpress_001
tsvc_variants_ionxpress_004
lanjinglingc2017103103501 mkdup sorted genotypegvcf
mmg003343
hodakb10_snp_indel_anno
hodakb12_snp_indel_anno
hodakt10_snp_indel_anno
hodakt12_snp_indel_anno
patient ann filtered
62334902_s25-161111_k00359_0038_bhg532bbxx-normal-illuwes-4f0ca40f-mvar
62334902_s25-161111_k00359_0038_bhg532bbxx-normal-illuwes-4f0ca40f-mvar
mp91583 both
ancestrydna
el-exome_s1
tsvc_variants_ionxpress_001-5225
9040 snpeff high
9040 cleaned_snpindel
9040 snpeff moderate
ex_013_mod
94533-0209701724_ms_onbait
promethease-1
71161510240931_annotated-4
hsp116-ii-1-filtered_variants
annovar hg19_multianno_pass
miller snpeff
s308
s315_9
248419675_annotated
test
variants
tsvc_variants_ionxpress_002-4
tsvc_variants_ionxpress_002-4
annotation final
ex
ex-sf
tsvc_variants_ionxpress_040
ap253-3 final
aaa
acacia
filtered
scz009_trimmed samtools
dnl109758_dez imputed
output 09_chr1 fa filtered3
45655-cr-ensemble
galaxy103-varscan_on_data_102
test
m1_rms1_10
m1_rms1_1
m1_rms1_11
m1_rms1_12
m1_rms1_14
m1_rms1_15
m1_rms1_13
m1_rms1_16
m1_rms1_17
m1_rms1_18
m1_rms1_19
m1_rms1_3
m1_rms1_2
m1_rms1_5
m1_rms1_4
m1_rms1_6
m1_rms1_7
m1_rms1_8
m1_rms1_9
mm180725at
mm180706dm
img-20181008-wa0006
tcga-bf-a1pu-01a-11d-a19a-08
pbrpl18h2_-_sravanthi_filtered_2018-09-27_04_08_32
breast1 1
sample1
mo-mi-abdi1130 final
u697_bwa_picard
164649418_s1 ann select dbsnp
na12877-rep1_s1
na12877-rep1_s1
f txt
f
2-fl-ha_482-01
miller
ctr0100487_mex076_alain_mancinas_201814015100_pass
bra19324freebayes
traning-sample-vcf-file
lapatrada pol indel
22603_s43
22603_s55
ns1-6
ns1-5 final
ns2-5 filtered variants
ns2-10 final
ns4-4
ns4-5
ns4-6
sama-karam_s1
copy-of-pof-ii-1-filtered-snps-indels-query output genome_summary
hsp108-ii-1-filtered_variants
2636_s28
2761_s29
4450_s11
6306_s1
6343_s27
6422_s23
6424_s25
6426_s21
12016_s26
12030_s5
12061_s9
12066_s20
12067_s13
12068_s19
12078_s17
12083_s14
12086_s22
12092_s33
12107_s6
16420_s8
16431_s7
16441_s18
17503_s31
17507_s32
2632_s12
sy-51_s2
sy-52_s3
2632_s12
2632_s12
jp5186_chip
32
na12878 dominant
miller
filtered_merged_a00k
rm-274 final
pm-286 final
diu946-001_results_diu946-001 final
shr
genome_jeffrey_bloom_v5_full_20190110052330
genome_jeffrey_bloom_v5_full_20190110052330
ht12d final
gatk f008 reheader
father
sec-2-18-7_filtered
sample_file
wanguard_s1
cdh6-52
full_combined_excel
miller
my var-final
62455815_s29 mvar
tsvc_variants_ionxpress_002
59876-as-ensemble
59876-as-ensemble
rf3717
56001801068581a snp
56001801066395a snp
56001801066395a indel
fmsd_filtered_snp_indel
180919fr-013-1
tsvc_variants_ioncode_0249
37-g0191 raw_variants
mr
mr
wes 6160 filtered recode
1886106_bak chr20
genome_susan_abernathy_v4_full_20190218171918
drift-nimh_freeze2_brmenn
9etks0122_annotation
17on508_ioncode_0113
a-full_variant_table
gm12878
hd829_190221_nb551050_0207_ahvwygbgx9 germline
solo_-a-star-wars-story-trailer
ctr0100514_mex083_jonathan_resendiz_20190502090400_pass
ctr0100502_mex079_amisaday_mora_20190330015800
200567_mutation_report1_filtered
qmul_trio_lof_assignment_2019
sample_hardfiltered
trio2 snpeff canon annotated exons dhg21091-v
trio2 snpeff canon annotated exons dhg21610-v
trio2 snpeff canon annotated exons dhg21611-v
8wkyncwo
8wkyncwo
mm160117hb v200
skaz004 gatk snp
porto_final_annot intervar_annovar
53586-full_variant_table
53586-full_variant_table
dna-data-2019-03-03
60820188484921_wgz snp-4
gi-variants-passed-homoz
wes_0012 hg38
rcl1126
wt108005 snp
wt108005fu0 snp
wt108005mu0 snp
mm190528hvp
mm190623opd
myexome
54871510242650_annotated-2
aghdas_dehghani qualified
plink
filtered4
filtered2
filtered5
filtered6
mpileup-final_calls_arg_046
111
p001_fim
xah
2_s2
kemikp79
h8m mutect2
001 final
60820188472738 snp
allsamples as snp_indel_pass_annotated
h7 indel_final
h11 snp_final
ashwath_ramji_slb567__wes_annotated_vcf
60820188484090 snp
56001808052608_wgz sv
f70
mr50 2
60820188481224 snp
60820188481224 indel1
yushu_s1 hg19_multianno
lh-2005601_umi hg19_multianno
pcg-f60 allchr snpeff p sal sal10_1 clinvar candidate_genes_tagged
genom_v5_full_20190304173844
144336383-full
144336383-full
moss final
62421900_s18-180124_k00541_0065_bhnjl7bbxx-normal-illuwesagi-76f236ce-freb filt pass
mmcs-209a
trio 2010_06 ychr sites-v2
trio 2010_06 ychr sites-v2
trio 2010_06 ychr sites-v2
file
tsvc_variants_ionxpress_006
f204-1528-proband
f204-1533-proband2
f204-1533-proband2
f204-1533-proband2
cp00040635 filtered indel
cp00040635 filtered snp
s216 g
6-na1287 both
00126 vep
demo1
60820188477917 filtered snp
f000043987_dp5_tag
2019_09_14t01_36_55z_suma_ionxpress_003
azm002
19508-01-01_s2
mm005
bm011
193810-bpl33-fg3374-sal-pi-19-16-4228-rhamppcr2_s123_l001_q20l30_sorted_primtv_snps
dg001 final
83356 33710_s2 smcounter anno
07-ms_s7 filtered vt snps indels annotated hg19_multianno
08-dh_s8 filtered vt snps indels annotated hg19_multianno
09-gf_s9 filtered vt snps indels annotated hg19_multianno
06t10508_snvintersect
95t14234_snvintersect
hht25
60820188482844 cnv
galaxy4-vcfselectsamples__on_data_1
62644690_s62 hpcl fboth pass
62644690_s62 bcfc filt pass
drift-nimh snps indels vqsr qced
62644690_s62 hpcl fboth pass
62644690_s62 bcfc filt pass
chan_pitt final
leila somatic
43_s43
44_s44
30_s30
nunez_a-2
variants selected
variants selected
liw
liw
nba852-001 variants
selected variants chr6
selected variants chr6
1351s
1352s
1353s
genome_aaron_hill_v3_full_20191101162607
skeletal
vqsr_snp_indel hc recaled
out
fomiga
94310feb
94410feb
718
chnaka
udp2568_axeq_1_hs37d5_remdup-uniqmap
udp5436_axeq_1_hs37d5_remdup-uniqmap
udp2569_axeq_1_hs37d5_remdup-uniqmap
udp2570_axeq_1_hs37d5_remdup-uniqmap
udp5435_axeq_1_hs37d5_remdup-uniqmap
udp2568_axeq_1_hs37d5_remdup-uniqmap
udp5436_axeq_1_hs37d5_remdup-uniqmap
udp2569_axeq_1_hs37d5_remdup-uniqmap
udp2570_axeq_1_hs37d5_remdup-uniqmap
sleepdisorders_saxena_sleep_exome_
funcotator_output
pjgl final
s75952_filtered_snps_and_indels
s75952_filtered_snps_and_indels
gen_coords_2546da25
gen_coords_4297ccf5
gen_coords_e4ad64d7
gen_coords_2546da25
gen_coords_2a24f493
20191018_null_jozsefpocsai_1_vcf
alves-daniel
ibg-2-cgm-0130 final
20041952_fiebersyndrome
axiomgt1 calls
136
914
914
dk31-akp-run025
wes413_annotated hg19_multianno
20159-01-01_s13-kopie
20160-01-01_s14-kopie
20160-02-01_s15-kopie
20161-01-01_s16-kopie
20162-01-01_s17-kopie
20163-01-01_s18-kopie
20165-01-01_s19-kopie
20166-01-01_s20-kopie
20167-01-01_s21-kopie
20168-01-01_s22-kopie
sano-converted-xao3oovlc7fnhcwi
60820188481023_wgz sv
nb26r3b7-vcf
nb26r3b7
nb26r3b7-vcf
ca-full_variant_table
df-full_variant_table
il-full_variant_table
le-full_variant_table
p767-full_variant_table
pa883-full_variant_table
p545-full_variant_table
p38bis-full_variant_table
2-pd
15_s15
17_s17
18_s18
mm200519jpm
mm200520lff
002-64854-300-scex
vep
haplotypecaller normalized sort
60820188477428 filtered snp
metin-yusa-ezelsoy
tsonexp104
na12878 recessive
f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered
1jzxjfqlmt6b6sjn
sg8_171109_m03874_0051_000000000-bc4b6_osteo_7_s7_v13
2388
2388_2
mm200704jip pass
mm200801fps
mm200802avc
mm200803lca
pa_1_filt_10x
pa_2_filt_10x
pa_2_filt_10x
pa_3_filt_10x
pa_4_filt_10x
tsvc_variants_ionxpress_032
tsvc_variants_ionxpress_029
tsvc_variants_ionxpress_028
tsvc_variants_ionxpress_027
christinas-dna-raw-data
christinas-dna-raw-data
f06400419-ib-ex-34-1651-narges-nikzad-x-7d5-orion-ilya-1_s17 soft_filtered-1
257_mg_v1
ancestrydna
h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered
g06400841-ib-ex-60-1790-lia-amanlo-x_s18 soft_filtered
h06400082-ib-ex-60-1795_s23 soft_filtered
g06400842-ib-ex-60-1791_s19 soft_filtered
h06400150-ib-ex-60-1801-aliasghar-faghan-tonaj-x soft_filtered
rbna2s annoted
mm200818ekc pass
60820188476706_wgz snp
60820188477428 filtered snp
60820188477428 filtered indel
mt9975_s20b_raw_onlyvariants
nb4y474q
chr1_tb
chrx_tb
f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered
62716307_s105-200325_a00853_0090_bhnncndmxx-normal-illuwestwist-c50063e5-mvar
56001801068832b_wgz indel
56001801068832b_wgz snp
i06400152-ib-ex-60-1844-ehsan-ilya-biotech-orion-raw-data-9-ilya-biotech-4_s237 soft_filtered
data_trios
child filtered_variants
father filtered_variants
mother filtered_variants
raha-nazari
i06401043-ib-ex-60-1962-parsa-riazi-ilya-biotech-100x-7d5-4_s155 soft_filtered
2039528
cypcyp_20170119
lf7070
4k20002_01 gatk
myheritage_raw_dna_data
inbound8305150685853676453
42171
42440
94231510241520_annotated
lscsousa-37862-convertido
db-142035-19648
62792253_s65 bcfc filt pass
li29247
dnl435773_hfn
mm2
genome_benjamin_beeler_v5_full_20201120080226
genome_benjamin_beeler_v5_full_20201120080226
mn1_1_dkdn200006670-1a_hhwwtdsxy_filt_10x
dnaroberta
vcf2
s2421nr2_snvs
2020-005022-full_variant_table
k06401019-ib-ex-60-2014-fateme-pour-orion-raw-data-ilya-biotech_s3 soft_filtered
1351s
1352s
1353s
1352s
1351s
dnl415328_mwu
premaidha_pandita
8_s8
casescomb_anno_nochr vep
controlcomb_anno_vep
013 final
013 final
a1 mutect somatic snv mm10_multianno
a2 mutect somatic snv mm10_multianno
a3 mutect somatic snv mm10_multianno
a4 mutect somatic snv mm10_multianno
a5 mutect somatic snv mm10_multianno
mm210202rsv
mm210206egs
mm210202rsv
example-4 1-bnd
55101705103716_annotated
15001711234580a snp
merged_pe_ann-1
galaxy43-snpeff_eff__on_data_37
60820188472777 cnv
xyk885-001
galaxy6-vcffilter__3022nr6
galaxy6-vcffilter_3022nr4
galaxy7-vcffilter_3022nr8
galaxy7-vcffilter__3022nr7
galaxy36-vcffilter__3466nr4
galaxy7-vcffilter__3466nr40
a
hocanf12689796 cnvnator filter reheader
schinzel_giedion
galaxy7-vcffilter__3466nr3
galaxy7-vcffilter__3466nr4
galaxy7-vcffilter__3466nr40
galaxy7-vcffilter__3466nr42
dados_brutos_saude
dna
20tes0779_fb
frasc37
15001711232689a snp
04-cn_s4
etb21-ktww
genome
wes08-paw final
10200154963-unkown-ib-ex-60-2156-amirreza-safavi-orion-raw-data-9d375-1_s67 soft_filtered
ng11yhb2uc
104001164731-unkownib-ex-60-2253ariyaeskandari-orion-rawdata-9d5-2_s86 soft_filtered
smallvariants filtered
m21 14_15b68a
file
dados_brutos_saude
galaxy8-vcffilter_3910nr1
c1-bcemep2073 snp indel excludeflt grch38
p1-bcemep2058 snp indel excludeflt grch38
c1-bcemep2073 snp indel excludeflt grch38
p1-bcemep2058 snp indel excludeflt grch38
ngs_variants
sample202111_ merge
fls_f1
fls_f1
abdelali_rgd43_1_s22_qualfilter2
89896
mm210618mmm
mm210618mmm
1_1-200000_1234n
62466786_s45 mvar
62466786_s45 mvar
filter output step1
468f2at-raw_hg19
dados_brutos_saude
snp_m4n4
ztc634-001 cnv grch38
ztc634-001 variants grch38
riya_final_variants
rajesh_father_final_variants
riya_sister_final_variants
sweety_das_mother_final_variants
hervkucsc final_compsc12
hervkucsc final_compsc13
hervkucsc final_compsc15
hervkucsc final_compsc16
hervkucsc final_compsc17
hervkucsc final_compsc18
hervkucsc final_compsc21
hervkucsc final_compsc22
hervkucsc final_compsc23
hervkucsc final_compsc24
hervkucsc final_compsc25
hervkucsc final_compsc26
hervkucsc final_compsc27
hervkucsc final_compsc28
hervkucsc final_compsc29
hervkucsc final_compsc30
hervkucsc final_compsc8
hervkucsc final_compsc10
hervkucsc final_compsc11
hervkucsc final_compsc9
hervkucsc final_compsc7
hervkucsc final_compsc2
hervkucsc final_compsc4
hervkucsc final_comp31
haplotypecaller_300_21
sl476778 qc recode
mm210921mll
vcffilter4321nr2
vcffilter4321nr1
c82258b6-cab8-419f-9847-26d3cb04de6c
gowrish_ghosh_7071491
lmivty4833qdq7qw
mk265 final
mk264 final
mk266 final
mk268 final
mk267 final
mm211102rsf
srr8898194
pai-convertido
genera-pai-dados-brutos
23andme
patient
lofreq1-annotation
meu-dna-convertido-v5
f83-1371_s1
f83-980_s1
f83-981_s1
test
test
15001710502500a snp
15001710502500a indel
tw-001-300447370701 hard-filtered
tw-001-300447370801 hard-filtered
tw-001-300447370901 hard-filtered
tw-001-300447371001 hard-filtered
pfeiffer-singleton
igb85_p_baserecal_precalread_varcall g
garrettgeminiuc-ng1kmmceb1-30x-wgs-sequencing_com-10-12-21 mito
eticket_ven014_12191851_1
wes018-ban final
wild final
15001711234580a snp
galaxy396-snpeff_eff__on_data_20_and_data_390
galaxy413-snpeff_eff__on_data_20_and_data_412
test
vars_mtec_s13
readme
153751
tm-001-300470609201_sample-4 hard-filtered
multisample final
all annotation 21
148225_eymennacar_93_final
sec5
galaxy13-vcffilter__on_data_11
myheritage_raw_dna_data
genome_kristen_hiser_v5_full_202204271056061
1ng1gd5leyg-1
output
output
documento-de-eunice
tm-001-300484487501-r1 hard-filtered
tm-001-300484487601 hard-filtered
ngs-5_s2
tw-001-300447371501 hard-filtered
tw-001-300458116301 hard-filtered-2
tm-001-300484487801 hard-filtered
mn1_1_dkdn200006670-1a_hhwwtdsxy_filt_10x
mn1_1_dkdn200006670-1a_hhwwtdsxy_filt_10x
bac931-001 variants grch38_
my_protein_filter_vep
drr006760 haplotypecaller
s65_cosmic_annovar hg38_multianno hg38_multianno
s96_cosmic_annovar hg38_multianno hg38_multianno
hsm03
paolo_maccallini_snp
paolo_maccallini_indel
tomkooy-ng1k4katmj-30x-wgs-sequencing_com-09-09-22 snp-indel genome
15001710502500a snp
na12878 compound_heterozygous
na12878 compound_heterozygous
na12878 compound_heterozygous
kemik154
2765 filtered indel
2765 filtered snp
rawdataoriginal
upj-1_annotation
gen1
63084816_s277 hpcl fboth pass
dados_brutos_423_saude
dados_brutos-fer_212_saude
liblalt53_variants funcotatedb37
ng1hpy2syw1
s_25_17 haplotypecaller filtered
damb121 variants
galaxy94-snpeff_eff__dt-sc1_filtered___100
test
test
variants_1132761_1003714
exome_tobias_qualls_7875dc_e9i96r
epf23-lugp final
mk266 final
mk265 final
mk264 final
mk268 final
mk267 final
freebayes-on-259-variants
br_2009 hard-filtered
88_1_4113063-4113122_fullgenome
88_1_4113063-4113122_fullgenome
sis-3299335378-52-a3-0222-full_variant_table
1-ng10uyr74p-30x-wgs-sequencing_com-01-16-24 snp-indel genome
leftfiltered
leftfiltered
wd_h final
lis_hg19 filt
62951226_s22 bcfc filt pass
62951226_s22 bcfc filt pass
63239608_s186 hpcl fboth pass_2
anotado
EXCLUDE SNP LIST:
EXCLUDE GROUPS:
3029
3030
test
LG_GGB_20171101
EXCLUDE SAVED GENE LIST:
93 genes
A
A
Ataxia
Atypical Hemolytic-Uremic Syndrome
CGH_AR
Childhood Renal panel
chronic nephrotic
CK
comprehensive kidny
Comprehensive Neuromuscular Disorders Panel
Congenital Disorders of Glycosylation Panel
Deb
DEB.ING
Dermatology Gene Panel
Diabetes
Ehler D
Epidermolysis Bullosa 2
Epidermolysis Bullosa Panel
epilepsy
Facial Dysostosis Panel
fanconi
Genes Got Time
HLA
HUS
Hypokalemia and Related Disorders Panel
Ichthyosis
ichthyosis2
ichthyosis3
immunodeficincy
jr
mayoclinic PN
metabolic
Mody
musclat dystrophy
Nada autosomal ressicev
nephrolithiasis
Nephrotic
Neurofibromatosis
Neuropathies
Neuropathies2
Neuropathies 3
ostiopetrosis
perxosomal
primary immunodef
Retinal Dystrophy
SEMD2
Skin and Connective Tissue Disorders Panel
SMED
Spastic Paraplegia
Spinal Muscular Atrophy
Stickler
thrompocytopenia
Treacher Collins syndrome
Treacher Collins syndrome2
white matter disorder
EXCLUDE GENE LIST:
SELECT INHERITANCE:
RECESSIVE HOMOZYGOUS
RECESSIVE COMPOUND HETEROZYGOUS
DOMINANT HETEROZYGOUS
X-LINKED RECESSIVE HEMIZYGOUS
X-LINKED DOMINANT HETEROZYGOUS
SELECT YOUR DISEASES:
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,