Preferred Name |
cerebrooculofacioskeletal syndrome 1 |
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Synonyms |
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Definitions |
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. |
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ID |
http://purl.obolibrary.org/obo/DOID_0080911 |
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database_cross_reference |
OMIM:214150 |
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definition |
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. |
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has_obo_namespace |
disease_ontology |
|
id |
DOID:0080911 |
|
label |
cerebrooculofacioskeletal syndrome 1 |
|
notation |
DOID:0080911 |
|
note |
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. |
|
preferred label |
cerebrooculofacioskeletal syndrome 1 |
|
prefLabel |
cerebrooculofacioskeletal syndrome 1 |
|
textual definition |
A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. |
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subClassOf |