loading...| Preferred Name | X-linked spondyloepiphyseal dysplasia tarda | |
| Synonyms |
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| 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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| ID |
http://purl.obolibrary.org/obo/DOID_0080362 |
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| Obsolete |
true |
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| database_cross_reference |
OMIM:313400 |
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| 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. |
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| disease has location | ||
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080362 |
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| label |
X-linked spondyloepiphyseal dysplasia tarda |
|
| notation |
DOID:0080362 |
|
| note |
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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| owl:deprecated |
true |
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| preferred label |
X-linked spondyloepiphyseal dysplasia tarda |
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| prefLabel |
X-linked spondyloepiphyseal dysplasia tarda |
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_0112284 |