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Metadata
ID DOID:0070764
PURL http://purl.obolibrary.org/obo/DOID_0070764 Copy
Name primary ciliary dyskinesia 51
Definition A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections that has_material_basis_in homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22. Situs abnormalities have been reported.
https://pubmed.ncbi.nlm.nih.gov/33389130/
Xrefs

MIM:620438

UMLS_CUI:C5830608
SKOS

exactMatch MIM:620438

exactMatch UMLS_CUI:C5830608
Subsets

DO_rare_slim
Synonyms

CILD51 [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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