craniometaphyseal dysplasia, autosomal dominant

Preferred Label : craniometaphyseal dysplasia, autosomal dominant;

MeSH note : dominant form due to mutation in human homolog of mouse ANKH gene;

CISMeF synonym : autosomal recessive craniometaphyseal dysplasia;

MeSH synonym : craniometaphyseal dysplasia dominant type; craniometaphyseal dysplasia, jackson type; craniometaphyseal dysplasia autosomal dominant; craniometaphyseal dysplasia jackson type; autosomal dominant craniometaphyseal dysplasia;

Details

Origin ID

C565145;

UMLS CUI

C1852502;

Currated CISMeF NLP mapping
- Craniometaphyseal dysplasia, autosomal dominant [OMIM Phenotype]
MeSH term(s) associated for indexing
- craniomandibular disorders [MeSH Descriptor]
Record concept(s)
- craniometaphyseal dysplasia, autosomal dominant [MeSH concept]
See also inter- (CISMeF)
- Craniometaphyseal dysplasia, autosomal recessive [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniometaphyseal dysplasia, autosomal dominant [OMIM Phenotype]

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