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loading...| Preferred Name |
Oliver-McFarlane syndrome |
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| Synonyms |
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| Definitions |
A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111271 |
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| definition |
A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. |
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| imported from | ||
| label |
Oliver-McFarlane syndrome |
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| prefixIRI |
DOID:0111271 |
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| prefLabel |
Oliver-McFarlane syndrome |
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| subClassOf |
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