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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_0080362
http://purl.obolibrary.org/obo/DOID_0080362
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|---|---|
| Preferred Name | X-linked spondyloepiphyseal dysplasia tarda |
| Definitions |
A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. |
|---|---|
| label |
X-linked spondyloepiphyseal dysplasia tarda
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| prefLabel |
X-linked spondyloepiphyseal dysplasia tarda
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| database_cross_reference |
MIM:313400
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| notation |
DOID:0080362
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| id |
DOID:0080362
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| has material basis in | |
| has_obo_namespace |
disease_ontology
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| disease has location | |
| subClassOf | |
| type |
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