Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/616734
http://purl.bioontology.org/ontology/OMIM/616734
|
|---|---|
| Preferred Name | SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 |
| Synonyms |
CSCSC2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CSCSC2
|
|---|---|
| prefLabel | SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
|
| Gene Symbol |
RP1
MAPRE2
EB2
CSCSC2
|
| notation | 616734
|
| Scope Statement | Based on report of 4 unrelated patients (last curated January 2016) [MISCELLANEOUS]
Caused by mutation in the microtubule-associated protein, RP/EB family, member-2 gene (MAPRE2, 605789.0001) [MOLECULAR BASIS]
Spontaneous improvement or resolution of skin creases in childhood [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 18q12
|
| tui | T019
|
| cui | C4225225
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |