Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/183600 http://purl.bioontology.org/ontology/OMIM/183600
Preferred Name	SPLIT-HAND/FOOT MALFORMATION 1
Synonyms	SPLIT-HAND DEFORMITY ECD SHSF1 ECTRODACTYLY SHFM1 SHFD1 SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS SPLIT-HAND/FOOT DEFORMITY 1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SPLIT-HAND DEFORMITY ECD SHSF1 ECTRODACTYLY SHFM1 SHFD1 SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS SPLIT-HAND/FOOT DEFORMITY 1 See more See less
prefLabel	SPLIT-HAND/FOOT MALFORMATION 1
Gene Symbol	SHFM1 DLX5 SHFM1D
Scope Statement	Caused by mutation in the distal-less homeobox-5 gene (DLX5, 600028.0002) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS] Variable expressivity [MISCELLANEOUS] Contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (601285), DLX5 (600028), and DLX6 (600030) genes and possible regulatory elements in the region [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU037216 http://purl.bioontology.org/ontology/OMIM/MTHU045268 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU012283 http://purl.bioontology.org/ontology/OMIM/MTHU004842 http://purl.bioontology.org/ontology/OMIM/MTHU045267 http://purl.bioontology.org/ontology/OMIM/MTHU020879 http://purl.bioontology.org/ontology/OMIM/MTHU017293 See more See less
tui	T019
Gene Locus	7q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	183600
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2931019
OMIM Entry Type	3
OMIM MimType Value	pound

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