Phenotype: Short metatarsal (HP:0010743)
Associated genes and diseases:
gene_symbol: HINT1
disease_id: ORPHA:324442
disease_name: Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: PEX7
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PHYH
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
gene_symbol: ZNF407
disease_id: OMIM:619557
disease_name: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: RIPK4
disease_id: ORPHA:1401
disease_name: CHAND syndrome
Baughman syndrome
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
gene_symbol: IQCE
disease_id: OMIM:617642
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A7
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: HOXA13
disease_id: ORPHA:2438
disease_name: Hand-foot-genital syndrome
HFGS
Hand-foot-uterus syndrome
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:609162
disease_name: CZECH DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:1856
disease_name: Spondyloperipheral dysplasia-short ulna syndrome
gene_symbol: PRKAR1A
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: PDE4D
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: PDE4D
disease_id: OMIM:614613
disease_name: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: SIL1
disease_id: OMIM:248800
disease_name: MARINESCO-SJOGREN SYNDROME
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: MAP3K7
disease_id: OMIM:617137
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 2
gene_symbol: MAP3K7
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: GDF5
disease_id: OMIM:228900
disease_name: DU PAN SYNDROME
gene_symbol: GDF5
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: PTHLH
disease_id: OMIM:613382
disease_name: BRACHYDACTYLY, TYPE E2
gene_symbol: PTHLH
disease_id: ORPHA:93387
disease_name: Brachydactyly type E
gene_symbol: IFT52
disease_id: OMIM:617102
disease_name: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: HOXD13
disease_id: ORPHA:93387
disease_name: Brachydactyly type E
gene_symbol: HOXD13
disease_id: OMIM:113300
disease_name: BRACHYDACTYLY, TYPE E1
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: FLNA
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: CANT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: GNAS
disease_id: OMIM:612463
disease_name: PSEUDOPSEUDOHYPOPARATHYROIDISM
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR2
disease_id: ORPHA:1540
disease_name: Jackson-Weiss syndrome
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: CHSY1
disease_id: OMIM:605282
disease_name: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
gene_symbol: FLNB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: GZF1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SKI
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: KIF22
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: GORAB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CHST3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CSGALNACT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: TRPS1
disease_id: ORPHA:77258
disease_name: Trichorhinophalangeal syndrome type 1
gene_symbol: KNSTRN
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: PIK3CD
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: RBPJ
disease_id: OMIM:614814
disease_name: ADAMS-OLIVER SYNDROME 3