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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614437
http://purl.bioontology.org/ontology/OMIM/614437
|
|---|---|
| Preferred Name | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB |
| Synonyms |
ARCL1B
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ARCL1B
|
|---|---|
| prefLabel | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
|
| Gene Symbol |
FBLN4
ARCL1B
EFEMP2
UPH1
|
| Scope Statement | Caused by mutation in the EGF-containing fibulin-like extracellular matrix protein-2 gene (EFEMP2, 604633.0001) [MOLECULAR BASIS]
Massive aortic aneurysm can cause airway compression in affected infants [MISCELLANEOUS]
Relatively mild cutis laxa, associated with severe vascular abnormalities [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614437
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280798
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |