Sabinas brittle hair syndrome

Preferred Label : Sabinas brittle hair syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Brittle hair and mental deficit;

Description : The principal features of Sabinas brittle hair syndrome, a form of nonphotosensitive trichothiodystrophy (TTDN; see 234050), include congenital hypotrichosis, mild to moderate onychodysplasia, varying mental retardation, and sterility. Ocular dysplasias are sometimes present and dentition is normal (Howell et al., 1980).;

Inheritance : Autosomal recessive;

Prefixed ID : %211390;

Détails

Origin ID

211390;

UMLS CUI

C0796271;

Currated CISMeF NLP mapping
- Brittle hair syndrome, Sabinas type [ORDO Disease]
- Sabinas brittle hair syndrome [ICD-11 More detail]
- Sabinas brittle hair syndrome [DO Concept]
- Sabinas brittle hair syndrome [MeSH concept]
- Sabinas brittle hair syndrome (disorder) [SNOMED CT concept]
- sabinas brittle hair syndrome [MeSH Supplementary Concept]
DO Cross reference
- Sabinas brittle hair syndrome [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Dry hair [HPO term]
- Hypotrichosis [HPO term]
- Hypotrichosis, infantile [HPO term]
- Intellectual disability [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Brittle hair syndrome, Sabinas type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brittle hair syndrome, Sabinas type [ORDO Disease]
- Sabinas brittle hair syndrome [MeSH concept]
- Sabinas brittle hair syndrome (disorder) [SNOMED CT concept]
- sabinas brittle hair syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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