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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609432
http://purl.bioontology.org/ontology/OMIM/609432
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|---|---|
| Preferred Name | SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION |
| Synonyms |
MSSD
SYNDACTYLY, TYPE IX
SYNDACTYLY, MALIK-PERCIN TYPE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MSSD
SYNDACTYLY, TYPE IX
SYNDACTYLY, MALIK-PERCIN TYPE
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|---|---|
| prefLabel | SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
|
| Gene Symbol |
BHLHA9
MSSD
BHLHF42
CCSPD
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| Scope Statement | Caused by mutation in the gene encoding member A9 of the basic helix-loop-helix family (BHLHA9, 615416.0001) [MOLECULAR BASIS]
Some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes [MISCELLANEOUS]
Feet are unaffected in some patients [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 17p13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 609432
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1836206
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |