ciliary dyskinesia, primary, 13

Preferred Label : ciliary dyskinesia, primary, 13;

MeSH note : mutation in LRRC50;

MeSH synonym : CILD13; ciliary dyskinesia, primary, 13, with or without situs inversus;

Détails

Origin ID

C567713;

UMLS CUI

C2750790;

Currated CISMeF NLP mapping
- Ciliary dyskinesia, primary, 13 [OMIM Phenotype]
- primary ciliary dyskinesia 13 [DO Concept]
MeSH term(s) associated for indexing
- ciliary motility disorders [MeSH Descriptor]
Record concept(s)
- ciliary dyskinesia, primary, 13 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 13 [OMIM Phenotype]
- primary ciliary dyskinesia 13 [DO Concept]
Validated automatic mappings to NTBT
- Primary ciliary dyskinesia [ORDO Disease]

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

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