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encyclopedia of Rare Disease Annotation for Precision Medicine



   nevus of ota
  

Disease ID 1516
Disease nevus of ota
Definition
A macular lesion on the side of the FACE, involving the CONJUNCTIVA and EYELIDS, as well as the adjacent facial skin, SCLERA; OCULOMOTOR MUSCLES; and PERIOSTEUM. Histological features vary from those of a MONGOLIAN SPOT to those of a BLUE NEVUS.
Synonym
congenital melanosis bulbi
congenital oculodermal melanocytosis
naevus fuscocaeruleus ophthalmomaxillaris
naevus fuscocerulophthalmomaxillaris
naevus fusoceruleus ophthalmomaxillaris
naevus fusoceruleus ophthalmomaxillasis
naevus of ota
nevus fuscocaeruleus ophthalmomaxillaris
nevus fuscocerulophthalmomaxillaris
nevus fusoceruleus ophthalmomaxillaris
nevus fusoceruleus ophthalmomaxillasis
nevus of ota (disorder)
nevus of ota (disorder) [ambiguous]
nevus of ota [disease/finding]
nevus ota
nevus, ota's
oculocutaneous melanocytic naevus
oculocutaneous melanocytic nevus
oculocutaneous melanocytic nevus (disorder)
oculodermal malanocytosis
oculodermal melanocytosis
oculodermal melanocytosis (disorder)
ota nevus
ota's naevus
ota's nevus
otas nevus
primary acquired melanosis of conjunctiva
Orphanet
DOID
UMLS
C0027961
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:9)
C0025202  |  malignant melanoma  |  4
C1266113  |  meningeal melanocytoma  |  4
C0025202  |  melanoma  |  4
C0017601  |  glaucoma  |  2
C0346099  |  nevus spilus  |  1
C0086543  |  cataract  |  1
C0017612  |  open-angle glaucoma  |  1
C1527390  |  intracranial tumour  |  1
C0022283  |  nevus of ito  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1516
Disease nevus of ota
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:4)
HP:0002861  |  Melanoma  |  4
HP:0000501  |  Glaucoma  |  2
HP:0003764  |  Naevus  |  1
HP:0000518  |  Cataract  |  1
Disease ID 1516
Disease nevus of ota
Manually Symptom
UMLS  | Name(Total Manually Symptoms:7)
C1608408  |  malignant transformation
C1334386  |  meningeal melanoma
C1334243  |  intracranial melanoma
C0346388  |  choroidal melanoma
C0162678  |  neurofibromatosis
C0025202  |  melanomas
C0025202  |  malignant melanoma
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0025202  |  malignant melanoma  |  2
C0025202  |  melanoma  |  1
C1608408  |  malignant transformation  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1516
Disease nevus of ota
Case(Waiting for update.)