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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/184253
http://purl.bioontology.org/ontology/OMIM/184253
|
|---|---|
| Preferred Name | SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE |
| Synonyms |
SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE
SMDALG
SPONDYLOMETAPHYSEAL DYSPLASIA WITH SEVERE GENU VALGUM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE
SMDALG
SPONDYLOMETAPHYSEAL DYSPLASIA WITH SEVERE GENU VALGUM
|
|---|---|
| prefLabel | SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE
|
| Gene Symbol |
SEDSTN
LCPD
ANFH1
STL1
COL2A1
EDMMD
ACG2
SEMDSTWK
SMDALG
VPED
OSCDP
PLSDT
SEDC
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|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q13.11-q13.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 184253
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1866688
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |