Van bogaert-hozay syndrome

Preferred Label : Van bogaert-hozay syndrome;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %277150;

Details

Origin ID

277150;

UMLS CUI

C1848598;

Currated CISMeF NLP mapping
- Van Bogaert-Hozay syndrome [MeSH concept]
- van Bogaert-Hozay syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Depressed nasal bridge [HPO term]
- Distal ulnar hypoplasia [HPO term]
- Flattened nasal bridge [HPO term]
- Intellectual disability, mild [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Tooth malposition [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van Bogaert-Hozay syndrome [MeSH concept]
- van Bogaert-Hozay syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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