Oliver–McFarlane syndrome
autosomal recessive disease 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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Oliver–McFarlane syndrome
Summary
Oliver–McFarlane syndrome is a developmental defect during embryogenesis[1]. It draws 104 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2]
Key Facts
- Oliver–McFarlane syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Oliver–McFarlane syndrome's instance of is recorded as rare disease[4].
- Oliver–McFarlane syndrome's instance of is recorded as class of disease[5].
- Oliver–McFarlane syndrome is a type of hypertrichosis[6].
- Oliver–McFarlane syndrome is a type of syndromic intellectual disability[7].
- Oliver–McFarlane syndrome is a type of autosomal recessive disease[8].
- Oliver–McFarlane syndrome is a type of syndrome[9].
- Oliver–McFarlane syndrome's health specialty is recorded as medical genetics[10].
- Oliver–McFarlane syndrome's genetic association is recorded as PNPLA6[11].
- Oliver–McFarlane syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3363[12].
- Oliver–McFarlane syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111271[13].
- Oliver–McFarlane syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111271[14].
- Oliver–McFarlane syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
Why It Matters
Oliver–McFarlane syndrome draws 104 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #133 of 308).[2] It is known by 13 alternative names across languages and contexts.[16]