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Metadata
ID DOID:0070762
PURL http://purl.obolibrary.org/obo/DOID_0070762 Copy
Name primary ciliary dyskinesia 49
Definition A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported.
https://pubmed.ncbi.nlm.nih.gov/32555313/, https://pubmed.ncbi.nlm.nih.gov/36047773/, https://www.ncbi.nlm.nih.gov/books/NBK1122/
Xrefs

MIM:620197

UMLS_CUI:C5774291
SKOS

exactMatch UMLS_CUI:C5774291

exactMatch MIM:620197
Subsets

DO_rare_slim
Synonyms

CILD49 [EXACT]
Parent Relationships

is_a autosomal recessive disease

is_a primary ciliary dyskinesia
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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