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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/225300
http://purl.bioontology.org/ontology/OMIM/225300
|
|---|---|
| Preferred Name | SPLIT-HAND/FOOT MALFORMATION 6 |
| Synonyms |
SHFM6
ECTRODACTYLY, AUTOSOMAL RECESSIVE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SHFM6
ECTRODACTYLY, AUTOSOMAL RECESSIVE
|
|---|---|
| prefLabel | SPLIT-HAND/FOOT MALFORMATION 6
|
| Gene Symbol |
SHFM6
STHAG8
WNT10B
|
| Scope Statement | Caused by mutation in the wingless-type MMTV integration site family, member 10B gene (WNT10B, 601906.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 12q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 225300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2749665
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |