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Metadata
ID DOID:0070761
PURL http://purl.obolibrary.org/obo/DOID_0070761 Copy
Name primary ciliary dyskinesia 48
Definition A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported.
https://pubmed.ncbi.nlm.nih.gov/32185794/, https://www.ncbi.nlm.nih.gov/books/NBK1122/
Xrefs

MIM:620032

UMLS_CUI:C5774214
SKOS

exactMatch UMLS_CUI:C5774214

exactMatch MIM:620032
Subsets

DO_rare_slim
Synonyms

CILD48 [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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