Atrichia with papular lesions

Preferred Label : Atrichia with papular lesions;

Symbol : APL;

CISMeF acronym : APL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Papular atrichia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HR lysine demethylase and nuclear receptor corepressor gene (HR, 602302.0005);

Prefixed ID : #209500;

Details

Origin ID

209500;

UMLS CUI

C1859592;

Automatic exact mappings (from CISMeF team)
- Acquired Progressive Lymphangioma [NCIt concept]
- Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA [NCIt concept]
- Acute promyelocytic leukaemia with t(15;17)(q24.1;q21.1), PML-RARA [ICD-11 More detail]
- Atrichia with keratin cysts [ICD-11 More detail]
- platelet aggregation inhibitors [MeSH Descriptor]
Currated CISMeF NLP mapping
- Atrichia with papular lesions [ORDO Disease]
- Atrichia with papular lesions (disorder) [SNOMED CT concept]
- atrichia with papular lesions [DO Concept]
- atrichia with papular lesions [Disease (Nov.)]
- atrichia with papular lesions [MeSH concept]
- atrichia with papular lesions [MeSH Supplementary Concept]
DO Cross reference
- atrichia with papular lesions [DO Concept]
Genes related to phenotype
- Hr lysine demethylase and nuclear receptor corepressor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Generalized papillary lesions [HPO term]
- Hypotrichosis [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Atrichia with papular lesions [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atrichia with papular lesions [ORDO Disease]
- Atrichia with papular lesions (disorder) [SNOMED CT concept]
- atrichia with papular lesions [MeSH Supplementary Concept]
- atrichia with papular lesions [MeSH concept]
- atrichia with papular lesions [DO Concept]
- atrichia with papular lesions [Disease (Nov.)]

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