Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/220600 http://purl.bioontology.org/ontology/OMIM/220600
Preferred Name	SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
Synonyms	DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET SHFM1D
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET SHFM1D
prefLabel	SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
Gene Symbol	SHFM1 DLX5 SHFM1D
Scope Statement	Caused by mutation in the distal-less homeobox-5 gene (DLX5, 600028.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037216 http://purl.bioontology.org/ontology/OMIM/MTHU067583 http://purl.bioontology.org/ontology/OMIM/MTHU034731 http://purl.bioontology.org/ontology/OMIM/MTHU067580 http://purl.bioontology.org/ontology/OMIM/MTHU004601 http://purl.bioontology.org/ontology/OMIM/MTHU003184 http://purl.bioontology.org/ontology/OMIM/MTHU004842 http://purl.bioontology.org/ontology/OMIM/MTHU020879 http://purl.bioontology.org/ontology/OMIM/MTHU067584 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU067579 http://purl.bioontology.org/ontology/OMIM/MTHU067581 http://purl.bioontology.org/ontology/OMIM/MTHU067582 See more See less
tui	T047 T019
Gene Locus	7q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	220600
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1857344
Moved from	605617
OMIM Entry Type	3
OMIM MimType Value	pound

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