Uncombable hair syndrome 1

Preferred Label : Uncombable hair syndrome 1;

Symbol : UHS1;

CISMeF acronym : UHS; UHS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : UHS; Pili trianguli et canaliculi; Uncombable hair syndrome;

Description : Uncombable hair syndrome is a relatively rare anomaly of the hair shaft that results in a disorganized, unruly hair pattern that is impossible to comb flat. The characteristic longitudinal grooves along the hair shaft, along with the triangular or kidney-shaped cross section, allows this condition to be diagnosed microscopically. Most cases improve with the onset of puberty (summary by Calderon et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in peptidylarginine deiminase type III (PADI3, 606755.0001);

Prefixed ID : #191480;

Details

Origin ID

191480;

UMLS CUI

C4551573;

Automatic exact mappings (from CISMeF team)
- Uncombable hair syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Uncombable hair syndrome [PASCAL descriptor]
- Uncombable hair syndrome [MeSH concept]
- Uncombable hair syndrome [ORDO Disease]
- Uncombable hair syndrome (disorder) [Inactive SNOMED CT concept]
- Uncombable hair syndrome (disorder) [SNOMED CT concept]
- uncombable hair syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Peptidylarginine deiminase, type III [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dry hair [HPO term]
- Pili canaliculi [HPO term]
- Uncombable hair [HPO term]
ORDO concept(s)
- Uncombable hair syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Uncombable hair syndrome [ORDO Disease]
- Uncombable hair syndrome [MeSH concept]
- Uncombable hair syndrome [PASCAL descriptor]
- Uncombable hair syndrome (disorder) [SNOMED CT concept]
- uncombable hair syndrome [MeSH Supplementary Concept]

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