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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/271665
http://purl.bioontology.org/ontology/OMIM/271665
|
|---|---|
| Preferred Name | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE |
| Synonyms |
SMED-SL
SMED, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE
SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE
SMED-SL/AC
SMED, TYPE II
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SMED-SL
SMED, SHORT LIMB-HAND TYPE
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE
SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE
SMED-SL/AC
SMED, TYPE II
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|
|---|---|
| prefLabel | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
|
| Gene Symbol |
NTRKR3
TKT
WRCN
DDR2
|
| Scope Statement | Caused by mutation in the discoidin domain receptor family, member 2 gene (DDR2, 191311.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 1q12-qter
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 271665
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1849011
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |