ciliary dyskinesia, primary, 7

Preferred Label : ciliary dyskinesia, primary, 7;

MeSH note : mutations in DNAH11;

CISMeF synonym : ciliary dyskinesia, primary, 7, with or without situs inversus;

MeSH synonym : Cild7;

Details

Origin ID

C567504;

UMLS CUI

C2678473;

Currated CISMeF NLP mapping
- Ciliary dyskinesia, primary, 7 [OMIM Phenotype]
- primary ciliary dyskinesia 7 [DO Concept]
MeSH term(s) associated for indexing
- Kartagener syndrome [MeSH Descriptor]
- dyneins [MeSH Descriptor]
Record concept(s)
- Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus [MeSH concept]
- ciliary dyskinesia, primary, 7 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 7 [OMIM Phenotype]
- primary ciliary dyskinesia 7 [DO Concept]
Validated automatic mappings to NTBT
- Primary ciliary dyskinesia [ORDO Disease]

Keyword's position in hierarchy(ies) :

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