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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/135500
http://purl.bioontology.org/ontology/OMIM/135500
|
|---|---|
| Preferred Name | ZIMMERMANN-LABAND SYNDROME 1 |
| Synonyms |
LABAND SYNDROME
FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY
ZLS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LABAND SYNDROME
FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY
ZLS1
|
|---|---|
| prefLabel | ZIMMERMANN-LABAND SYNDROME 1
|
| Gene Symbol |
TMBTS
EAG
ZLS1
KCNH1
|
| Scope Statement | Caused by mutation in the potassium channel, voltage-gated, subfamily H, member-1 gene (KCNH1, 603305.0005) [MOLECULAR BASIS]
Majority of cases are sporadic [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1q32-q41
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 135500
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4551773
C0796013
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |