Hypotrichosis 5

Preferred Label : Hypotrichosis 5;

Symbol : HYPT5;

CISMeF acronym : HYPT5; MUHH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marie unna hereditary hypotrichosis 2; MUHH2;

Description : For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.;

Inheritance : Autosomal dominant;

Prefixed ID : #612841;

Details

Origin ID

612841;

UMLS CUI

C2748535;

Broader ORDO disease(s)
- Marie Unna hereditary hypotrichosis [ORDO Disease]
Currated CISMeF NLP mapping
- hypotrichosis 5 [DO Concept]
- hypotrichosis 5 [MeSH concept]
- hypotrichosis 5 [MeSH Supplementary Concept]
DO Cross reference
- hypotrichosis 5 [DO Concept]
Genes related to phenotype
- Eps8-like protein 3 [OMIM gene]
HPO term(s)
- Absent axillary hair [HPO term]
- Absent pubic hair [HPO term]
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Sparse eyelashes [HPO term]
- Thin eyebrow [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]
- Hearing abnormality [HPO term]
ORDO concept(s)
- Marie Unna hereditary hypotrichosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypotrichosis 5 [MeSH Supplementary Concept]
- hypotrichosis 5 [MeSH concept]
- hypotrichosis 5 [DO Concept]

Keyword's position in hierarchy(ies) :

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