Osteopenia and sparse hair

Preferred Label : Osteopenia and sparse hair;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 259690;

Détails

Origin ID

259690;

UMLS CUI

C1850140;

Automatic exact mappings (from CISMeF team)
- Kaler Garrity Stern syndrome [MeSH concept]
- Osteopenia-intellectual disability-sparse hair syndrome [ORDO Disease]
- kaler garrity stern syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the face [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Osteopenia [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Osteopenia-intellectual disability-sparse hair syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kaler Garrity Stern syndrome [MeSH concept]
- Osteopenia, intellectual disability, sparse hair syndrome (disorder) [SNOMED CT concept]
- Osteopenia-intellectual disability-sparse hair syndrome [ORDO Disease]
- kaler garrity stern syndrome [MeSH Supplementary Concept]

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

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