loading...| Preferred Name | cerebrooculofacioskeletal syndrome | |
| Synonyms |
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| Definitions |
A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080910 |
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| database_cross_reference |
OMIM:PS214150 GARD:6027 |
|
| definition |
A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080910 |
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| in_subset | ||
| label |
cerebrooculofacioskeletal syndrome |
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| notation |
DOID:0080910 |
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| note |
A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. |
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| preferred label |
cerebrooculofacioskeletal syndrome |
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| prefLabel |
cerebrooculofacioskeletal syndrome |
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| subClassOf |