primary ciliary dyskinesia 5

primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has material basis in homozygous mutation in the HYDIN gene on chromosome 16q22

Wikidata entity: Q28024750

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url None ???
P2293 genetic association ... Q18041246 (HYDIN) HYDIN
P1995 health specialty ... Q1071953 (medical genetics) medical genetics
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q1690779 (primary ciliary dyskinesia) primary ciliary dyskinesia
External Ids
P699Disease Ontology IDDOID:0110617
P4229ICD-10-CMQ34.8
P486MeSH descriptor IDC563886
P5270Mondo IDMONDO_0012088
P492OMIM ID608647
P492OMIM ID608647
P2892UMLS CUIC1837615
P11430UniProt disease IDDI-03560

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log id: 3017531