van Bogaert-Hozay syndrome

Preferred Label : van Bogaert-Hozay syndrome;

MeSH note : A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects;

MeSH synonym : hozay's syndrome; acro-osteolysis-facial dysplasia syndrome;

Details

Origin ID

C536526;

UMLS CUI

C1848598;

Currated CISMeF NLP mapping
- Van bogaert-hozay syndrome [OMIM Phenotype]
False automatic mappings
- Valproate embryopathy, susceptibility to [OMIM Phenotype]
Has phenotype(s) (HPO)
- Flattened nasal bridge [HPO term]
MeSH term(s) associated for indexing
- acro-osteolysis [MeSH Descriptor]
- blepharoptosis [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- decalcification, pathologic [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- strabismus [MeSH Descriptor]
Record concept(s)
- Van Bogaert-Hozay syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van bogaert-hozay syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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