Woolly hair, hypotrichosis, everted lower lip, and outstanding ears

Preferred Label : Woolly hair, hypotrichosis, everted lower lip, and outstanding ears;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Salamon syndrome;

Description : Salamon (1963) described this syndrome as a recessive. The parents were consanguineous. As an isolated trait, woolly hair is a dominant (194300). Also see 278150. *FIELD* RF 1. Salamon, T.: Ueber eine Familie mit recessiver Kraushaarigkeit, Hypotrichose und anderen Anomalien. Hautarzt 14: 540-544, 1963. *FIELD* CS Hair: Woolly hair; Hypotrichosis;

Inheritance : ? Autosomal recessive;

Prefixed ID : 278200;

Détails

Origin ID

278200;

UMLS CUI

C0406718;

Currated CISMeF NLP mapping
- Salamon's syndrome (disorder) [SNOMED CT concept]
- Woolly hair – hypotrichosis – everted lower lip – outstanding ears [ICD-11 More detail]
- Woolly hair, hypotrichosis, everted lower lip and outstanding ears [MeSH concept]
- Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome [ORDO Disease]
- woolly hair, hypotrichosis, everted lower lip and outstanding ears [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Everted lower lip vermilion [HPO term]
- Hypotrichosis [HPO term]
- Protruding ear [HPO term]
- Sparse hair [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Salamon's syndrome (disorder) [SNOMED CT concept]
- Woolly hair – hypotrichosis – everted lower lip – outstanding ears [ICD-11 More detail]
- Woolly hair, hypotrichosis, everted lower lip and outstanding ears [MeSH concept]
- Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome [ORDO Disease]
- woolly hair, hypotrichosis, everted lower lip and outstanding ears [MeSH Supplementary Concept]

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