Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

neurofibromatosis

Synonyms

Acoustic neurofibromatosis

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_8712

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2022_09_01:154642000

ICD9CM:237.7

UMLS_CUI:C0162678

ICD10CM:Q85.00

GARD:10420

NCI:C6727

ORDO:93921

MESH:D017253

has exact synonym

Acoustic neurofibromatosis

peripheral Neurofibromatosis

central Neurofibromatosis

von Reklinghausen disease

Recklinghausen's neurofibromatosis

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_alternative_id

DOID:14750

DOID:8711

DOID:9137

has_obo_namespace

disease_ontology

id

DOID:8712

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

neurofibromatosis

notation

DOID:8712

prefLabel

neurofibromatosis

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0050736

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C6727 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162678 MedlinePlus Health Topics LOOM