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Preferred Name

Moyamoya Disease 2
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C183312
code

C183312
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source

Cellosaurus
DEFINITION

An autosomally inherited subtype of moyamoya disease often presenting in childhood caused by mutation(s) in the RNF213 gene, encoding E3 ubiquitin-protein ligase RNF213.
FULL_SYN

MYMY2

Moyamoya Disease 2
label

Moyamoya Disease 2
Preferred_Name

Moyamoya Disease 2
prefixIRI

Thesaurus:C183312
prefLabel

Moyamoya Disease 2
Semantic_Type

Disease or Syndrome
UMLS_CUI

C1846689
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84895
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0011784 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/607151 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C536992 Medical Subject Headings / 医学主题词表 LOOM