Phenotype: Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)
Associated genes and diseases:
gene_symbol: IFNGR1
disease_id: OMIM:209950
disease_name: IMMUNODEFICIENCY 27A
gene_symbol: SLC26A2
disease_id: OMIM:226900
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: POP1
disease_id: OMIM:617396
disease_name: ANAUXETIC DYSPLASIA 2
gene_symbol: TRAF3IP1
disease_id: OMIM:616629
disease_name: SENIOR-LOKEN SYNDROME 9
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: COL2A1
disease_id: OMIM:184255
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
gene_symbol: COL2A1
disease_id: ORPHA:93316
disease_name: Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Algerian type
gene_symbol: COL2A1
disease_id: OMIM:609162
disease_name: CZECH DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:94068
disease_name: Spondyloepiphyseal dysplasia congenita
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
gene_symbol: FN1
disease_id: OMIM:184255
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
gene_symbol: COMP
disease_id: ORPHA:750
disease_name: Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
gene_symbol: COMP
disease_id: OMIM:132400
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: TRAPPC2
disease_id: OMIM:313400
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED
gene_symbol: DDRGK1
disease_id: OMIM:602557
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: TRPV4
disease_id: OMIM:184095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: TRPV4
disease_id: OMIM:113500
disease_name: BRACHYOLMIA TYPE 3
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: CFAP410
disease_id: OMIM:602271
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: TMEM67
disease_id: OMIM:602152
disease_name: RHYNS SYNDROME
gene_symbol: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: SHOX
disease_id: OMIM:249700
disease_name: LANGER MESOMELIC DYSPLASIA
gene_symbol: SHOX
disease_id: ORPHA:2632
disease_name: Langer mesomelic dysplasia
Mesomelic dwarfism, Langer type
gene_symbol: EXOC6B
disease_id: OMIM:618395
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
gene_symbol: PRG4
disease_id: ORPHA:2848
disease_name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: CANT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CANT1
disease_id: OMIM:617719
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7
gene_symbol: MATN3
disease_id: OMIM:607078
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
gene_symbol: B3GALT6
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: MMP9
disease_id: OMIM:613073
disease_name: METAPHYSEAL ANADYSPLASIA 2
gene_symbol: SLC10A7
disease_id: OMIM:618363
disease_name: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
gene_symbol: PIK3C2A
disease_id: OMIM:618440
disease_name: OCULOSKELETODENTAL SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT1
disease_id: ORPHA:370930
disease_name: XYLT1-CDG
gene_symbol: XYLT2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PLOD3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: FLNB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GZF1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GAT3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIEZO2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B4GALT7
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SKI
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: KIF22
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GORAB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHST3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CSGALNACT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: FGFR3
disease_id: OMIM:146000
disease_name: HYPOCHONDROPLASIA
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
gene_symbol: SLC39A13
disease_id: ORPHA:157965
disease_name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SCD-EDS
SLC39A13-related spEDS
SLC39A13-related spondylodysplastic EDS
Spondylocheirodysplastic Ehlers-Danlos syndrome
spEDS-SLC39A13
gene_symbol: SLC39A13
disease_id: OMIM:612350
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: COL9A1
disease_id: OMIM:614134
disease_name: STICKLER SYNDROME, TYPE IV
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5