Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	BJORNSTAD SYNDROME
Synonyms	PILI TORTI AND NERVE DEAFNESS
ID	http://purl.bioontology.org/ontology/OMIM/262000
altLabel	PILI TORTI AND NERVE DEAFNESS BJS PTD
cui	C0266006
Gene Locus	2q33
Gene Symbol	GRACILE BCS1L BJS PTD FLNMS MC3DN1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001816 http://purl.bioontology.org/ontology/OMIM/MTHU042128 http://purl.bioontology.org/ontology/OMIM/MTHU042126 http://purl.bioontology.org/ontology/OMIM/MTHU042124 http://purl.bioontology.org/ontology/OMIM/MTHU042131 http://purl.bioontology.org/ontology/OMIM/MTHU000759 http://purl.bioontology.org/ontology/OMIM/MTHU042127 http://purl.bioontology.org/ontology/OMIM/MTHU042125 http://purl.bioontology.org/ontology/OMIM/MTHU005951 http://purl.bioontology.org/ontology/OMIM/MTHU042129 http://purl.bioontology.org/ontology/OMIM/MTHU002046 http://purl.bioontology.org/ontology/OMIM/MTHU042132 http://purl.bioontology.org/ontology/OMIM/MTHU020645 http://purl.bioontology.org/ontology/OMIM/MTHU042130
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	262000
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	BJORNSTAD SYNDROME
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0050677	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/C537633	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C537633	Medical Subject Headings	LOOM