Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615072 http://purl.bioontology.org/ontology/OMIM/615072
Preferred Name	BRACHYDACTYLY, TYPE A1, C
Synonyms	BDA1C
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BDA1C
prefLabel	BRACHYDACTYLY, TYPE A1, C
Gene Symbol	GDF5 CDMP1 SYNS2 SYM1B DUPANS OS5 BDA1C See more See less
Scope Statement	Heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern [MISCELLANEOUS] Caused by mutation in the growth/differentiation factor-5 gene (GDF5, 601146.0020) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU043561 http://purl.bioontology.org/ontology/OMIM/MTHU043556 http://purl.bioontology.org/ontology/OMIM/MTHU043565 http://purl.bioontology.org/ontology/OMIM/MTHU043564 http://purl.bioontology.org/ontology/OMIM/MTHU043558 http://purl.bioontology.org/ontology/OMIM/MTHU043559 http://purl.bioontology.org/ontology/OMIM/MTHU043560 http://purl.bioontology.org/ontology/OMIM/MTHU043563 http://purl.bioontology.org/ontology/OMIM/MTHU043562 http://purl.bioontology.org/ontology/OMIM/MTHU069546 See more See less
tui	T047
Gene Locus	20q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615072
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU043557 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554446
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display