Brachydactyly

Disease Term Disease ID Gene Symbol Classification References Source
BRACHYDACTYLY
C0221357MONDO:0021004MESH:D059327
NIPBL Causal — Disgenet
TRPS1 Causal — Disgenet
TULP1 Causal — Disgenet
BMPR1B Unknown — Disgenet GenCC
CHST11 Unknown — Disgenet
GDF5 Unknown — Disgenet
GNAS Unknown
12719376
CTD Disgenet
HDAC4 Unknown
20691407
CTD Disgenet
HOXD13 Unknown — Disgenet
IHH Unknown — Disgenet
IQCE Unknown — Disgenet
PRMT7 Unknown — Disgenet
SCAPER Unknown — Disgenet
SLC26A2 Unknown — Disgenet
SMAD4 Unknown
22158539
CTD Disgenet
BRACHYDACTYLY SYNDROME TYPE C
C1300268
GDF5 Unknown — Disgenet
BRACHYDACTYLY TYPE A1
93388C1862151MESH:C537088MONDO:0007215
IHH Causal
11455389 18629882 16871364 12384778 12525541 19277064
CTD ClinVar Disgenet GWAS catalog Orphanet
BMPR1B Unknown
25758993
Disgenet GWAS catalog Orphanet
GDF5 Unknown
20683927
Disgenet GWAS catalog Orphanet
BRACHYDACTYLY TYPE A1C
MONDO:0014032
GDF5 Causal
12357473 12567410 16014698 8145850 9288091
ClinVar Disgenet
BRACHYDACTYLY TYPE A1D
MONDO:0014798
BMPR1B Causal — ClinVar GenCC
BRACHYDACTYLY TYPE A2
93396MESH:C537089MONDO:0007216
BMP2 Unknown
16109715 18812404 19327734 21357617 21671386 24710560 29129813
CTD GWAS catalog Orphanet
BMPR1B Unknown
14523231 18203755
CTD GWAS catalog Orphanet
GDF5 Unknown
16014698
CTD Disgenet Orphanet
BRACHYDACTYLY TYPE B1
572385MONDO:0007220
ROR2 Causal
10986040 10700182 19461659 19533773 18554391 24954533
ClinVar GWAS catalog Orphanet
BRACHYDACTYLY TYPE B2
140908C1969652MONDO:0012658
NOG Causal
17668388
ClinVar Disgenet Orphanet
BRACHYDACTYLY TYPE C
93384C1862103MESH:C537093MONDO:0007221
GDF5 Causal
12357473
CTD ClinVar Disgenet GenCC Orphanet
BMPR1B Unknown
16957682
Orphanet
BRACHYDACTYLY TYPE D
MONDO:0007222
HOXD13 Causal — ClinVar
BRACHYDACTYLY TYPE E
93387MONDO:0019677
HOXD13 Causal
12649808
ClinGen Orphanet
PTHLH Unknown
20170896
GWAS catalog Orphanet
BRACHYDACTYLY TYPE E1
MONDO:0007223
HOXD13 Causal — ClinVar
BRACHYDACTYLY TYPE E2
MONDO:0013244
PTHLH Causal
20170896
CTD ClinVar
BRACHYDACTYLY WITH HYPERTENSION
C1862170MESH:C537095
PDE3A Unknown
25961942
CTD Disgenet
BRACHYDACTYLY WITH SYNDACTYLY ZHAO TYPE
C4303990
HOXD13 Unknown — Disgenet
BRACHYDACTYLY, TYPE A1
112500
IHH Unknown — HPO
BRACHYDACTYLY, TYPE A1, C
615072C3554446OMIM:615072
GDF5 Unknown — CTD Disgenet HPO
BRACHYDACTYLY, TYPE A1, D
616849C4225183OMIM:616849
BMPR1B Unknown — CTD Disgenet HPO
BRACHYDACTYLY, TYPE A2
112600C1832702
BMP2 Unknown — Disgenet HPO
BMPR1B Unknown — Disgenet HPO
GDF5 Unknown — Disgenet HPO
BRACHYDACTYLY, TYPE B1
113000C1862112MESH:C566196
ROR2 Unknown
12815588
CTD Disgenet HPO
BRACHYDACTYLY, TYPE B2
611377OMIM:611377
NOG Unknown — CTD HPO
BRACHYDACTYLY, TYPE C
113100
GDF5 Unknown — HPO
BRACHYDACTYLY, TYPE D
113200C0220664MESH:C562420
HOXD13 Unknown
24239177
CTD Disgenet HPO
BRACHYDACTYLY, TYPE E
C4315392MESH:C566194
HDAC4 Unknown
24715439
CTD Disgenet
HOXD13 Unknown — Disgenet
PTHLH Unknown — Disgenet
BRACHYDACTYLY, TYPE E1
113300C1862102OMIM:113300
HOXD13 Unknown
24239177
CTD Disgenet HPO
PTH1R Unknown — Disgenet