Phenotype: Aplasia/Hypoplasia involving the vertebral column (HP:0008518)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:184255
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE
gene_symbol: COL2A1
disease_id: OMIM:184250
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
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:177170
disease_name: PSEUDOACHONDROPLASIA
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: DYM
disease_id: OMIM:607326
disease_name: SMITH-MCCORT DYSPLASIA 1
gene_symbol: DYM
disease_id: ORPHA:239
disease_name: Dyggve-Melchior-Clausen disease
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: COG4
disease_id: ORPHA:85172
disease_name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
gene_symbol: LFNG
disease_id: OMIM:609813
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: ROR2
disease_id: OMIM:113000
disease_name: BRACHYDACTYLY, TYPE B1
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: ACVR1
disease_id: OMIM:135100
disease_name: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: DDRGK1
disease_id: OMIM:602557
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
gene_symbol: SIX6
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SOX2
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
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: SLC26A2
disease_id: ORPHA:56304
disease_name: Atelosteogenesis type II
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
gene_symbol: SLC26A2
disease_id: OMIM:222600
disease_name: DIASTROPHIC DYSPLASIA
gene_symbol: SLC26A2
disease_id: ORPHA:628
disease_name: Diastrophic dysplasia
Diastrophic dwarfism
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
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: CANT1
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: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: COL11A1
disease_id: OMIM:228520
disease_name: FIBROCHONDROGENESIS 1
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: RINT1
disease_id: OMIM:618641
disease_name: INFANTILE LIVER FAILURE SYNDROME 3
gene_symbol: TCIRG1
disease_id: ORPHA:1782
disease_name: Dysosteosclerosis
gene_symbol: SLC29A3
disease_id: ORPHA:1782
disease_name: Dysosteosclerosis
gene_symbol: TNFRSF11A
disease_id: ORPHA:1782
disease_name: Dysosteosclerosis
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: WNT7A
disease_id: ORPHA:2879
disease_name: Phocomelia, Schinzel type
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
gene_symbol: VANGL1
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: FUZ
disease_id: ORPHA:3027
disease_name: Caudal regression syndrome
Caudal dysgenesis syndrome
Caudal dysplasia
Caudal regression sequence
gene_symbol: PTH1R
disease_id: ORPHA:79106
disease_name: Eiken syndrome
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: HAAO
disease_id: OMIM:617660
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
gene_symbol: TBXT
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
gene_symbol: VANGL2
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: FANCB
disease_id: ORPHA:3412
disease_name: VACTERL with hydrocephalus
Sujansky-Leonard syndrome