Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613382 http://purl.bioontology.org/ontology/OMIM/613382
Preferred Name	BRACHYDACTYLY, TYPE E2
Synonyms	BDE2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BDE2
prefLabel	BRACHYDACTYLY, TYPE E2
Gene Symbol	PTHLH BDE2
Scope Statement	Caused by mutation in the parathyroid hormone-like hormone gene (PTHLH, 168470.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009268 http://purl.bioontology.org/ontology/OMIM/MTHU002992 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU069031 http://purl.bioontology.org/ontology/OMIM/MTHU030377
tui	T047
Gene Locus	12p12.1-p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613382
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3150644
OMIM Entry Type	3
OMIM MimType Value	pound

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