Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/262000 http://purl.bioontology.org/ontology/OMIM/262000
Preferred Name	BJORNSTAD SYNDROME
Synonyms	PTD PILI TORTI AND NERVE DEAFNESS BJS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PTD PILI TORTI AND NERVE DEAFNESS BJS
prefLabel	BJORNSTAD SYNDROME
Gene Symbol	FLNMS GRACILE PTD BJS MC3DN1 BCS1L See more See less
Scope Statement	Hair loss begins in first years of life [MISCELLANEOUS] Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0008) [MOLECULAR BASIS] Hearing loss typically begins between 3 and 4 years of age [MISCELLANEOUS] Variable severity [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001816 http://purl.bioontology.org/ontology/OMIM/MTHU002046 http://purl.bioontology.org/ontology/OMIM/MTHU042126 http://purl.bioontology.org/ontology/OMIM/MTHU000132 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU005951 http://purl.bioontology.org/ontology/OMIM/MTHU042128 http://purl.bioontology.org/ontology/OMIM/MTHU042129 http://purl.bioontology.org/ontology/OMIM/MTHU042127 http://purl.bioontology.org/ontology/OMIM/MTHU042125 See more See less
tui	T047
Gene Locus	2q33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	262000
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0266006
OMIM Entry Type	3
OMIM MimType Value	pound

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