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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/254940
http://purl.bioontology.org/ontology/OMIM/254940
|
|---|---|
| Preferred Name | CAREY-FINEMAN-ZITER SYNDROME 1 |
| Synonyms |
MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
CFZS
CFZS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
CFZS
CFZS1
|
|---|---|
| prefLabel | CAREY-FINEMAN-ZITER SYNDROME 1
|
| Gene Symbol |
MYMK
TMEM8C
|
| Scope Statement | Onset in infancy or in late teen years [MISCELLANEOUS]
Slowly progressive [MISCELLANEOUS]
Caused by mutation in the myomaker gene (MYMK, 615345.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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See less
|
| tui | T047
|
| Gene Locus | 9q34.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 254940
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5676876
C1850746
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |