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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613005
http://purl.bioontology.org/ontology/OMIM/613005
|
|---|---|
| Preferred Name | SANTOS SYNDROME |
| Synonyms |
FIBULAR AGENESIS/HYPOPLASIA, OLIGODACTYLOUS CLUBFEET, AND ANONYCHIA/NAIL HYPOPLASIA SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | FIBULAR AGENESIS/HYPOPLASIA, OLIGODACTYLOUS CLUBFEET, AND ANONYCHIA/NAIL HYPOPLASIA SYNDROME
|
|---|---|
| prefLabel | SANTOS SYNDROME
|
| Gene Symbol |
SANTOS
WNT7A
|
| Scope Statement | Caused by mutation in the wingless-type MMTV integration site family, member 7A gene (WNT7A, 601570.0007) [MOLECULAR BASIS]
Unilateral complex pre- and postaxial polysyndactyly in 1 heterozygote [MISCELLANEOUS]
Based on report of 1 family (last curated December 2024) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3p25
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 613005
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2751698
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |