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loading...| Preferred Name | cerebrooculofacioskeletal syndrome 2 | |
| Synonyms |
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| Definitions |
A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080912 |
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| database_cross_reference |
MESH:C565185 MIM:610756 |
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| definition |
A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080912 |
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| label |
cerebrooculofacioskeletal syndrome 2 |
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| notation |
DOID:0080912 |
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| prefLabel |
cerebrooculofacioskeletal syndrome 2 |
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| subClassOf |
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