Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated genes and diseases:
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: COL2A1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: CBS
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FBN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: IPO8
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: THSD4
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SKI
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ASPH
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FBN2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LOX
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: BGN
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME