Phenotype: Pterygium (HP:0001059)
Associated genes and diseases:
gene_symbol: CHRNA1
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: CHRND
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: KIF21A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: NUP88
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: TUBA1A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MYOD1
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MAGEL2
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MUSK
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: RAPSN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: GLDN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: SLC18A3
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: DOK7
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: CHRNG
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: HSPG2
disease_id: OMIM:224410
disease_name: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
gene_symbol: HSPG2
disease_id: ORPHA:1865
disease_name: Dyssegmental dysplasia, Silverman-Handmaker type
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: NOP10
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: NHP2
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: MYH3
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: PLOD2
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: PLOD2
disease_id: OMIM:609220
disease_name: BRUCK SYNDROME 2
gene_symbol: FKBP10
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: FKBP10
disease_id: OMIM:259450
disease_name: BRUCK SYNDROME 1
gene_symbol: ITGA6
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
gene_symbol: ITGB4
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: ALPK3
disease_id: OMIM:618052
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: FLVCR2
disease_id: OMIM:225790
disease_name: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME
gene_symbol: GPC6
disease_id: ORPHA:93329
disease_name: Autosomal recessive omodysplasia
Micromelic dysplasia-dislocation of radius syndrome
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: CHUK
disease_id: OMIM:619339
disease_name: BARTSOCAS-PAPAS SYNDROME 2
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
gene_symbol: PLEC
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: PITX1
disease_id: OMIM:119800
disease_name: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
gene_symbol: IRF6
disease_id: OMIM:119500
disease_name: POPLITEAL PTERYGIUM SYNDROME
gene_symbol: IRF6
disease_id: ORPHA:1300
disease_name: Autosomal dominant popliteal pterygium syndrome
Facio-genito-popliteal syndrome
Popliteal web syndrome
gene_symbol: BHLHA9
disease_id: ORPHA:3329
disease_name: Tibial aplasia-ectrodactyly syndrome
Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: IGF2
disease_id: OMIM:616489
disease_name: SILVER-RUSSELL SYNDROME 3
gene_symbol: KIF14
disease_id: OMIM:616258
disease_name: MECKEL SYNDROME 12