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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Neuroblastoma 3
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Accession:DOID:9009095 term browser browse the term
Synonyms:exact_synonym: ALK-RELATED CONDITION;   NBLST3
 related_synonym: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
 primary_id: OMIM:613014


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Neuroblastoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase susceptibility IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar Annotator: match by term: ALK-related condition
ClinVar Annotator: match by term: Neuroblastoma 3
ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3		 ClinVar
OMIM		 PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G CLIP4 CAP-Gly domain containing linker protein family member 4 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,097,726...29,183,808
Ensembl chr 2:29,097,705...29,199,777 		JBrowse link
G LOC105374389 uncharacterized LOC105374389 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,474,734...29,475,377 JBrowse link
G LOC122756683 Sharpr-MPRA regulatory region 127 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:25640679 PMID:28492532 NCBI chr 2:29,374,823...29,375,117 JBrowse link
G LOC122756684 Sharpr-MPRA regulatory region 9206 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,522,283...29,522,577 JBrowse link
G PCARE photoreceptor cilium actin regulator IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230 		JBrowse link
G WDR43 WD repeat domain 43 IAGP ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 2:28,894,667...28,948,219
Ensembl chr 2:28,894,667...28,948,219 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    disease of cellular proliferation 9921
      Neoplasms by Site 9097
        Nervous System Neoplasms 2331
          peripheral nervous system neoplasm 203
            autonomic nervous system neoplasm 107
              neuroblastoma 107
                Neuroblastoma 3 8
Path 2
Term Annotations click to browse term
  disease 35773
    disease of cellular proliferation 9921
      cancer 6890
        organ system cancer 6644
          nervous system cancer 1595
            central nervous system cancer 1382
              brain cancer 1366
                supratentorial cancer 1085
                  cerebrum cancer 1048
                    malignant astrocytoma 1043
                      astroblastoma 869
                        Primitive Neuroectodermal Tumors 318
                          Primitive Peripheral Neuroectodermal Tumors 108
                            Neuroblastic Tumor 107
                              neuroblastoma 107
                                Neuroblastoma 3 8
paths to the root