Phenotype: Abnormal odontoid process morphology (HP:0003310)
Associated genes and diseases:
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: MESP2
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
gene_symbol: DLL3
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
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: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
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: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: ALDH18A1
disease_id: OMIM:616603
disease_name: CUTIS LAXA, AUTOSOMAL DOMINANT 3