Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	DISTAL-LESS HOMEOBOX 5
Synonyms	SPLIT-HAND/FOOT MALFORMATION 1 SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE DLX5
ID	http://purl.bioontology.org/ontology/OMIM/600028
altLabel	SPLIT-HAND/FOOT MALFORMATION 1 SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE DLX5
cui	C1857344 C1414079 C2931019
Gene Locus	7q22
Gene Symbol	SHFM1 DLX5 SHFM1D
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/600028.0003 http://purl.bioontology.org/ontology/OMIM/600028.0001 http://purl.bioontology.org/ontology/OMIM/600028.0002
MIMTYPEMEANING	Gene with known sequence
notation	600028
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	DISTAL-LESS HOMEOBOX 5
tui	T047 T019 T028

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/723611008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C574275	MESH	CUI
http://purl.bioontology.org/ontology/MESH/C565647	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/723611008	SCTSPA	CUI
http://www.limics.org/hrdo/rdfns#gen_id_20789	HRDO	LOOM
http://www.ncbi.nlm.nih.gov/gene/13395	NIFSTD	LOOM
http://www.orpha.net/ORDO/Orphanet_291751	ORDO	LOOM