| Term ID: |
8440 |
| Name: |
C1-C2 vertebral abnormality |
| Synonym: |
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| Definition: |
Any abnormality of the atlas and the axis. |
| Comments: |
|
| Reference: |
HP:0008440 |
| Genes and Diseases: | |
Child Nodes: |
........ C1-C2 subluxation (HP:0003320) 
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Sister Nodes: |
..Abnormal cervical curvature (HP:0005905)
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..Aplasia/Hypoplasia of the cervical spine (HP:0011041)
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..Cervical platyspondyly (HP:0004558)
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..Cervical spine hypermobility (HP:0003318)
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..Cervical spine instability (HP:0010646)
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..Cervical spondylosis (HP:0008480)
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..Cervical subluxation (HP:0003308)
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..Cervical vertebral bodies with decreased anteroposterior diameter (HP:0008483)
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..Cervical vertebral dysplasia (HP:0008469)
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..Decreased cervical spine mobility (HP:0004637)
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..Enlarged sagittal diameter of the cervical canal (HP:0005878)
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..Short neck (HP:0000470)
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..Widening of cervical spinal canal (HP:0004571)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 284 | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 9 | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | | | HP:0008440 | HP:0008440 | C1-C2 vertebral abnormality | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | | | HP:0008440 | HP:0003320 | C1-C2 subluxation | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | | | HP:0008440 | HP:0003320 | C1-C2 subluxation | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | | | HP:0008440 | HP:0003320 | C1-C2 subluxation | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | | | HP:0008440 | HP:0003320 | C1-C2 subluxation | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | | | HP:0008440 | HP:0003320 | C1-C2 subluxation | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | | | HP:0008440 | HP:0003320 | C1-C2 subluxation | 1 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
Genes (8) :ARSL COL2A1 DDR2 FN1 IDUA MADD MMP2 SKI
Diseases (8) :ORPHA:79345 OMIM:184250 ORPHA:93315 OMIM:271665 OMIM:607014 OMIM:619004 OMIM:259600 OMIM:182212 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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