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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/256700
http://purl.bioontology.org/ontology/OMIM/256700
|
|---|---|
| Preferred Name | NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 |
| Synonyms |
NEUROBLASTOMA, SUSCEPTIBILITY TO
NBLST1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEUROBLASTOMA, SUSCEPTIBILITY TO
NBLST1
|
|---|---|
| prefLabel | NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
|
| Gene Symbol |
CMT2A1
NBLST1
KIF1B
CMT2A
|
| Scope Statement | Mean age of onset 14-24 months [MISCELLANEOUS]
Symptoms vary according to location of tumor [MISCELLANEOUS]
Spontaneous tumor regression may occur [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Highly variable clinical phenotype [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Usually sporadic, but 1-2% of cases are familial [MISCELLANEOUS]
N-myc oncogene (164840) amplification is associated with poor prognosis [MISCELLANEOUS]
Susceptibility conferred by mutation in the kinesin family member 1B gene (KIF1B, 605995.0002). [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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|
| tui | T033
|
| Gene Locus | 1p36.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 256700
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2749484
C2749485
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |