Phenotype: Oligodactyly (HP:0012165)
Associated genes and diseases:
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: DLL4
disease_id: OMIM:616589
disease_name: ADAMS-OLIVER SYNDROME 6
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: SMOC1
disease_id: ORPHA:1106
disease_name: Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: GLI3
disease_id: ORPHA:93322
disease_name: Isolated tibial hemimelia
Isolated congenital absence of tibia
Isolated congenital aplasia and dysplasia of the tibia with intact fibula
Isolated congenital longitudinal deficiency of the tibia
Isolated tibial longitudinal meromelia
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: TP63
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: WNT7A
disease_id: OMIM:613005
disease_name: SANTOS SYNDROME
gene_symbol: CYP26B1
disease_id: OMIM:614416
disease_name: RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
gene_symbol: DLX6
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: SEM1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: BTRC
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: EPS15L1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: FBXW4
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: WNT10B
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: DLX5
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: HOXD13
disease_id: OMIM:610713
disease_name: BRACHYDACTYLY-SYNDACTYLY SYNDROME
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects