Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	BRACHYDACTYLY, TYPE A1, B
Synonyms	BDA1B
ID	http://purl.bioontology.org/ontology/OMIM/607004
altLabel	BDA1B
cui	C1846949
Gene Locus	5p13.3-p13.2
Gene Symbol	BDA1B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003703 http://purl.bioontology.org/ontology/OMIM/MTHU003706 http://purl.bioontology.org/ontology/OMIM/MTHU003704 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU003705 http://purl.bioontology.org/ontology/OMIM/MTHU003702 http://purl.bioontology.org/ontology/OMIM/MTHU003710 http://purl.bioontology.org/ontology/OMIM/MTHU003709 http://purl.bioontology.org/ontology/OMIM/MTHU003708 http://purl.bioontology.org/ontology/OMIM/MTHU003707 http://purl.bioontology.org/ontology/OMIM/MTHU000145
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	607004
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	BRACHYDACTYLY, TYPE A1, B
Scope Statement	Genetic heterogeneity [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564635	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0011757	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0110974	DOID	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564635	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0011757	DOVES	LOOM
http://purl.bioontology.org/ontology/MESH/C564635	MESH	LOOM
http://purl.obolibrary.org/obo/DOID_0110974	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0110974	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110974	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0110974	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110974	FNS-H	LOOM