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loading...| Preferred Name |
Cornelia de Lange syndrome 1 |
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| Synonyms |
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| Definitions |
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080505 |
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| database_cross_reference |
OMIM:122470 |
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| definition |
A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0080505 |
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| label |
Cornelia de Lange syndrome 1 |
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| notation |
DOID:0080505 |
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| prefLabel |
Cornelia de Lange syndrome 1 |
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| subClassOf |
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