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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/156610
http://purl.bioontology.org/ontology/OMIM/156610
|
|---|---|
| Preferred Name | SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 |
| Synonyms |
CSCSC1
CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE
SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS
MICHELIN TIRE BABY SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CSCSC1
CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE
SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS
MICHELIN TIRE BABY SYNDROME
|
|---|---|
| prefLabel | SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
|
| Gene Symbol |
TUBB5
TUBB
M40
CDCBM6
CSCSC1
|
| notation | 156610
|
| Scope Statement | Based on report of 3 unrelated children (last curated January 2016) [MISCELLANEOUS]
Caused by mutation in the beta tubulin gene (TUBB, 191130.0004) [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 |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 6p21.3
|
| tui | T047
|
| cui |
C0473586
C4551592
|
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