| Human Phenotype
Ontology
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Grandparent Node:
 Abnormality of the spinal cord (HP:0002143) | Parent Node:
Myelopathy (HP:0002196) | ..Starting node
..Cervical myelopathy (HP:0002318)
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| Term ID: |
2318 |
| Name: |
Cervical myelopathy |
| Synonym: |
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| Definition: |
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| Comments: |
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| Reference: |
HP:0002318 |
| Genes and Diseases: | |
Child Nodes: | ........Abnormal cervical myelogram (HP:0005788)
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Sister Nodes: | ..Myelocystocele (HP:0030709)
| | 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:0002318 | HP:0002318 | Cervical myelopathy | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | . | | | 96 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040284 - Very rare | | | 96 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | . | | | 102 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040284 - Very rare | | | 102 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | | | HP:0002318 | HP:0002318 | Cervical myelopathy | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | | | HP:0002318 | HP:0005788 | Abnormal cervical myelogram | 1 | CL E G H | | | | | | | | | | |
Genes (8) :ARSB COL2A1 EXT1 EXT2 GALNS GLB1 NAXE NMNAT1
Diseases (9) :OMIM:253200 OMIM:183900 OMIM:133700 ORPHA:321 OMIM:133701 OMIM:253000 OMIM:253010 OMIM:617186 OMIM:619260 |
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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