Phenotype: Aplasia involving bones of the extremities (HP:0009825)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:186100
disease_name: SYNDACTYLY, TYPE III
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: LMBR1
disease_id: OMIM:135750
disease_name: LAURIN-SANDROW SYNDROME
gene_symbol: LMBR1
disease_id: ORPHA:2378
disease_name: Laurin-Sandrow syndrome
Mirror hands and feets-nasal defects syndrome
Sandrow syndrome
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: DYNC2H1
disease_id: OMIM:613091
disease_name: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
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: CHD7
disease_id: OMIM:214800
disease_name: CHARGE 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: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: XRCC2
disease_id: OMIM:617247
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP U
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: SHH
disease_id: ORPHA:93321
disease_name: Isolated radial hemimelia
Isolated congenital longitudinal deficiency of the radius
Isolated radial club hand
Isolated radial longitidinal meromelia
Isolated radial ray agenesis
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
gene_symbol: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: GDF5
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type
gene_symbol: BMPR1B
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type