Oliver-mcfarlane syndrome

Preferred Label : Oliver-mcfarlane syndrome;

Symbol : OMCS;

CISMeF acronym : OMCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina; Eyelashes, long, with mental retardation;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the patatin-like phospholipase domain-containing protein 6 gene (PNPLA6, 603197.0013);

Prefixed ID : #275400;

Details

Origin ID

275400;

UMLS CUI

C1848745;

Automatic exact mappings (from CISMeF team)
- Oliver-McFarlane syndrome [DO Concept]
Currated CISMeF NLP mapping
- Oliver-McFarlane syndrome [MeSH concept]
- Oliver-McFarlane syndrome [MeSH Supplementary Concept]
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome [ORDO Disease]
DO Cross reference
- Oliver-McFarlane syndrome [DO Concept]
Genes related to phenotype
- Patatin-like phospholipase domain-containing protein 6 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal peripheral neuropathy [HPO term]
- Central heterochromia [HPO term]
- Cryptorchidism [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed puberty [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Dwarfism, 'low birth weight' type [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of penis [HPO term]
- Intellectual disability [HPO term]
- Long eyebrows [HPO term]
- Long eyelashes [HPO term]
- Nystagmus [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pigmentary retinopathy [HPO term]
- Retinal degeneration [HPO term]
- Severe short stature [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital trichomegaly [MedDRA Preferred Term]
- Oliver-McFarlane syndrome [MeSH Supplementary Concept]
- Oliver-McFarlane syndrome [MeSH concept]
- Oliver-McFarlane syndrome [DO Concept]
- Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) [SNOMED CT concept]
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome [ORDO Disease]

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