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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:large congenital melanocytic nevus
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Accession:DOID:0111359 term browser browse the term
Definition:A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: CMNS;   Congenital pigmented nevus;   GIANT CONGENITAL PIGMENTED NEVUS;   GMN;   GPHN;   Giant Pigmented Hairy Nevus;   Giant congenital melanocytic nevus;   LCMN;   MELANOCYTIC NEVUS SYNDROME, CONGENITAL;   congenital melanocytic nevus syndrome, somatic
 narrow_synonym: PIGMENTED MOLES NEVUS SPILUS;   spitz nevus
 primary_id: MESH:C536819
 alt_id: MIM:137550
 xref: NCI:C3944;   NCI:C4234;   ORDO:626


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large congenital melanocytic nevus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus		 OMIM
CTD
ClinVar		 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus | ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus		 OMIM
CTD
ClinVar		 PMID:1654209 PMID:3102434 PMID:6587382 PMID:10821536 PMID:12727991 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    physical disorder 5194
      large congenital melanocytic nevus 3
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              Skin Neoplasms 494
                large congenital melanocytic nevus 3
paths to the root