loading...| Preferred Name |
Oliver-McFarlane syndrome |
|
| Synonyms |
eyelashes long mental retardation |
|
| 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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| database_cross_reference |
MESH:C536554 SNOMEDCT_US_2023_03_01:719944006 UMLS_CUI:C1848745 OMIM:275400 GARD:5266 ORDO:3363 |
|
| has exact synonym |
eyelashes long mental retardation trichomegaly-retina pigmentary degeneration-dwarfism syndrome long eyelashes-intellectual disability syndrome OMCS |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111271 |
|
| in_subset | ||
| label |
Oliver-McFarlane syndrome |
|
| notation |
DOID:0111271 |
|
| prefLabel |
Oliver-McFarlane syndrome |
|
| textual 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. |
|
| subClassOf |