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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/200900
http://purl.bioontology.org/ontology/OMIM/200900
|
|---|---|
| Preferred Name | SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY |
| Synonyms |
SLSD WITH SCID
ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SLSD WITH SCID
ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY
|
|---|---|
| prefLabel | SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY
|
| Scope Statement | Early lethal [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| MIMTYPEMEANING | Other, mainly phenotypes with suspected mendelian basis
|
| notation | 200900
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1860168
|
| OMIM Entry Type | 0
|
| OMIM MimType Value | none
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |