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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619793
http://purl.bioontology.org/ontology/OMIM/619793
|
|---|---|
| Preferred Name | RESTRICTIVE DERMOPATHY 2 |
| Synonyms |
RSDM2
RESTRICTIVE DERMOPATHY 2, LETHAL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
RSDM2
RESTRICTIVE DERMOPATHY 2, LETHAL
|
|---|---|
| prefLabel | RESTRICTIVE DERMOPATHY 2
|
| Gene Symbol |
HGPS
EMD2
LMNA
LMN1
CMD1A
FPLD2
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|
| Scope Statement | Early infantile death [MISCELLANEOUS]
Much rarer form of RSDM1 [MISCELLANEOUS]
Caused by mutation in the laminin A/C gene (LMNA, 150330.0022) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q21.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619793
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5676942
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |