Neuroblastoma, susceptibility to, 2

Preferred Label : Neuroblastoma, susceptibility to, 2;

Symbol : NBLST2;

CISMeF acronym : NBLST2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Neuroblastoma with hirschsprung disease;

Prefixed ID : #613013;

Details

Origin ID

613013;

UMLS CUI

C2751682;

Automatic exact mappings (from CISMeF team)
- PHOX2B wt Allele [NCIt concept]
- hirschsprung disease ganglioneuroblastoma [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Neuroblastoma [ORDO Disease]
Genes related to phenotype
- Paired-like homeobox 2b [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Ganglioneuroblastoma [HPO term]
- Ganglioneuroma [HPO term]
- Neuroblastoma [HPO term]
ORDO concept(s)
- Neuroblastoma [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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