Online Mendelian Inheritance in Man - CILIARY DYSKINESIA, PRIMARY, 51 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/620438 http://purl.bioontology.org/ontology/OMIM/620438
Preferred Name	CILIARY DYSKINESIA, PRIMARY, 51
Synonyms	CILD51
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CILD51
prefLabel	CILIARY DYSKINESIA, PRIMARY, 51
Gene Symbol	CILD51 BRWD1 C21orf107 WRD9
notation	620438
Scope Statement	Caused by mutation in the bromodomain and WD repeat domain-containing protein-1 gene (BRWD1, 617824.0001) [MOLECULAR BASIS] Based on report of 3 unrelated Chinese men (last curated June 2023) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU056014 http://purl.bioontology.org/ontology/OMIM/MTHU062249 http://purl.bioontology.org/ontology/OMIM/MTHU006969 http://purl.bioontology.org/ontology/OMIM/MTHU077296 http://purl.bioontology.org/ontology/OMIM/MTHU077295 http://purl.bioontology.org/ontology/OMIM/MTHU059322 http://purl.bioontology.org/ontology/OMIM/MTHU016480 http://purl.bioontology.org/ontology/OMIM/MTHU040903 http://purl.bioontology.org/ontology/OMIM/MTHU001474 http://purl.bioontology.org/ontology/OMIM/MTHU066912 http://purl.bioontology.org/ontology/OMIM/MTHU072139 http://purl.bioontology.org/ontology/OMIM/MTHU037624 http://purl.bioontology.org/ontology/OMIM/MTHU072563 http://purl.bioontology.org/ontology/OMIM/MTHU073982 http://purl.bioontology.org/ontology/OMIM/MTHU077294 http://purl.bioontology.org/ontology/OMIM/MTHU059321 http://purl.bioontology.org/ontology/OMIM/MTHU007930 http://purl.bioontology.org/ontology/OMIM/MTHU037276 http://purl.bioontology.org/ontology/OMIM/MTHU037263 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	21q22.2-q22.3
tui	T047
cui	C5830608

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