Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

neurodegeneration with brain iron accumulation 4

Synonyms

MPAN

Definitions

A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.

ID

http://purl.obolibrary.org/obo/DOID_0110738

database_cross_reference

ICD10CM:G23.0

OMIM:614298

ORDO:289560

definition

A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.

has exact synonym

MPAN

NBIA due to C19orf12 mutation

Neurodegeneration with brain iron accumulation type 4

NBIA4

Neurodegeneration with brain iron accumulation due to C19orf12 mutation

Mitochondrial Protein-Associated Neurodegeneration

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0110738

in_subset

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

label

neurodegeneration with brain iron accumulation 4

notation

DOID:0110738

prefLabel

neurodegeneration with brain iron accumulation 4

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_0110734

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http://purl.bioontology.org/ontology/OMIM/614298 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0013674 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0013674 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C175707 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM