Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

periventricular nodular heterotopia

Synonyms

periventricular heterotopia

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

ID

http://purl.obolibrary.org/obo/DOID_0050454

comment

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

database_cross_reference

OMIM:608097

OMIM:300049

MESH:D054091

SNOMEDCT_US_2022_09_01:448227009

UMLS_CUI:C1868720

OMIM:608098

OMIM:615544

UMLS_CUI:C1848213

SNOMEDCT_US_2022_09_01:816068000

ORDO:98892

OMIM:612881

definition

A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

has exact synonym

periventricular heterotopia

has_obo_namespace

disease_ontology

id

DOID:0050454

in_subset

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

label

periventricular nodular heterotopia

notation

DOID:0050454

prefLabel

periventricular nodular heterotopia

subClassOf

http://purl.obolibrary.org/obo/DOID_2490

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_98892 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020341 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0020341 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU042504 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/D054091 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/HP_0032388 Human Phenotype Ontology / 人类表型本体 LOOM