Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

MELANOCYTIC NEVUS SYNDROME, CONGENITAL
Synonyms

GIANT CONGENITAL PIGMENTED NEVUS

SPITZ NEVUS

GPHN

PIGMENTED MOLES

CMNS

GIANT PIGMENTED HAIRY NEVUS

NEVUS SPILUS
ID

http://purl.bioontology.org/ontology/OMIM/137550
altLabel

GIANT CONGENITAL PIGMENTED NEVUS

SPITZ NEVUS

GPHN

PIGMENTED MOLES

CMNS

GIANT PIGMENTED HAIRY NEVUS

NEVUS SPILUS
cui

C0206739

C1842036

C0346099
Gene Locus

11p15.5
Gene Symbol

HRAS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004401

http://purl.bioontology.org/ontology/OMIM/MTHU048513

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU007297

http://purl.bioontology.org/ontology/OMIM/MTHU004626

http://purl.bioontology.org/ontology/OMIM/MTHU045103

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU045104

http://purl.bioontology.org/ontology/OMIM/MTHU000267

http://purl.bioontology.org/ontology/OMIM/MTHU048512

http://purl.bioontology.org/ontology/OMIM/MTHU045100

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU002602

http://purl.bioontology.org/ontology/OMIM/MTHU005669

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU025836

http://purl.bioontology.org/ontology/OMIM/MTHU048515

http://purl.bioontology.org/ontology/OMIM/MTHU005671

http://purl.bioontology.org/ontology/OMIM/MTHU045098

http://purl.bioontology.org/ontology/OMIM/MTHU045106

http://purl.bioontology.org/ontology/OMIM/MTHU045105

http://purl.bioontology.org/ontology/OMIM/MTHU005783

http://purl.bioontology.org/ontology/OMIM/MTHU045099

http://purl.bioontology.org/ontology/OMIM/MTHU009346

http://purl.bioontology.org/ontology/OMIM/MTHU048514
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

137550
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MELANOCYTIC NEVUS SYNDROME, CONGENITAL
Scope Statement

Caused by somatic mutation in the HRas proto-oncogene, GTPase gene (HRAS, 190020.0017) [MOLECULAR BASIS]

Caused by somatic mutation in the NRAS proto-oncogene, GTPase gene (NRAS, 164790.0002) [MOLECULAR BASIS]

Onset at birth [MISCELLANEOUS]

Relatives with multiple small congenital pigmented nevi [MISCELLANEOUS]
tui

T191
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10023256 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/1260467009 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10087537 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D018332 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/254811006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10041632 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10023256 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/88082008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10041632 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10023256 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10023255 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/88082008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254811006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10062802 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10062802 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10041632 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/M-87700 SNMI CUI
http://purl.bioontology.org/ontology/RCD/BBEN. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10062802 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003793 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10023255 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10023255 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D018332 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/BBEL. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/10291008 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X78VD RCD CUI
http://purl.bioontology.org/ontology/SNMI/M-87611 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1260467009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C536819 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/10291008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/398660000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10087517 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10087517 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10087517 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10087537 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/733523000 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X78VA RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/733523000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D0-70110 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/398660000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10087537 MDRGER CUI
http://identifiers.org/omim/137550 REXO LOOM
http://identifiers.org/omim/137550 GEXO LOOM
http://identifiers.org/omim/137550 RETO LOOM
http://purl.bioontology.org/ontology/MESH/C536819 MESH LOOM