PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

CADASIL

Synonyms
Definitions

A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036585

Database_Cross_Reference

OMIM:125310

MEDCIN:314889

NDFRT:N0000010974

MTH:NOCODE

OMIM:600276

MSH:D046589

SNOMEDCT_US:390723008

CHV:0000048464

MDR:10065555

DO:DOID:0111035

DO:DOID:13945

NCI:C84606

MDR:10065551

SNOMEDCT_US:390936003

Definition

A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.

label

CADASIL

MCID

MC00258861

PMOID

PMO:00036585

prefixIRI

pmo:PMO_00036585

prefLabel

CADASIL

Synonym

Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Dementia, Hereditary Multi Infarct Type

cadasil

CADASIL1

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1

CADASIL Syndrome

cadasil (diagnosis)

DEMENTIA, HEREDITARY MULTI-INFARCT TYPE

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

CASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (disorder)

CADASIL 1

cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1

hereditary multi-infarct dementia

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy

CADASIL [Disease/Finding]

Tree Number

T9.21.15.5.22.2.2

T9.21.15.5.22.12.1.1

T9.20.2.30.6.1

T9.20.2.30.12.1.1

T9.21.15.5.31.2.1

T9.21.15.5.5.2.1

T9.8.4.9

T9.21.15.5.22.6.1

T9.20.2.23.2.4.1.1

T9.21.15.5.22.12.4.1.1

T9.20.2.30.12.4.1.1

T9.20.2.30.2.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036321

http://www.phoc.org.cn/pmo/class/PMO_00036327

http://www.phoc.org.cn/pmo/class/PMO_00036558

http://www.phoc.org.cn/pmo/class/PMO_00038275

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_136 EFO LOOM
http://purl.obolibrary.org/obo/DOID_13945 DOID LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48464 OCHV LOOM
http://purl.obolibrary.org/obo/Cerebral_Autosomal_Dominant_Arteriopathy_with_Sub-cortical_Infarcts_and_Leukoencephalopathy NND_ND LOOM
http://radlex.org/RID/RID3360 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.253.560.200.175 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.400.203 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.253.329.249 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10065555 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.275.249 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0023792 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D046589 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.510.200.175 RH-MESH LOOM
http://www.gamuts.net/entity#CADASIL GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_13945 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13945 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13945 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13945 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13945 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13945 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0751587 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.380.230.124 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.129 RH-MESH LOOM
http://identifiers.org/hgnc/1425 HGNC-NR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D046589 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1001 HRDO LOOM
http://purl.jp/bio/4/id/200906061860060081 IOBC LOOM