Hypotrichosis 7

Preferred Label : Hypotrichosis 7;

Symbol : HYPT7;

CISMeF acronym : AH; ARWH2; HYPT7; LAH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypotrichosis, localized, autosomal recessive 2; Hypotrichosis, autosomal recessive; Hypotrichosis, total, mari type; LAH2; AH;

Included titles and symbols : Woolly hair, autosomal recessive 2, with or without hypotrichosis; Wh/ht; ARWH2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lipase H gene (LIPH, 607365.0001);

Prefixed ID : #604379;

Details

Origin ID

604379;

UMLS CUI

C1836672;

Automatic exact mappings (from CISMeF team)
- ANAEMIA HAEMOLYTIC [WHO-ART High Level Term]
- Alcoholic hepatitis [ICD-11 Subcategory]
- Ash (organism) [SNOMED CT concept]
- GDC Alcohol History Terminology [NCIt concept]
- Genus Anous (organism) [SNOMED CT concept]
- Genus Anser (organism) [SNOMED CT concept]
- Total Hypotrichosis, Mari type [MeSH concept]
- acetylene hydratase activity [GO term]
- anatomy and histology [MeSH Qualifier]
- anterior nucleus of hypothalamus [UBERON concept]
- total hypotrichosis, mari type [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hypotrichosis simplex [ORDO Disease]
Currated CISMeF NLP mapping
- hypotrichosis 7 [DO Concept]
DO Cross reference
- hypotrichosis 7 [DO Concept]
Genes related to phenotype
- Lipase h [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Comedo [HPO term]
- Hypotrichosis [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Woolly hair [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
- Abnormality of the skin [HPO term]
ORDO concept(s)
- Hypotrichosis simplex [ORDO Disease]
- Woolly hair [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Total Hypotrichosis, Mari type [MeSH concept]
- hypotrichosis 7 [DO Concept]
- total hypotrichosis, mari type [MeSH Supplementary Concept]

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