PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Fabry Disease

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00036615

Database_Cross_Reference

DXP:U000615

SNOMEDCT_US:190796008

MTH:NOCODE

CHV:0000001173

MTHICD9:272.7

MSH:D000795

SNM:D-1435

NCI_NICHD:C84701

MDR:10016016

SNM:D-1434

CSP:1849-9034

MEDCIN:33525

MDR:10071118

SNOMEDCT_US:16652001

NCI:C84701

RCD:X40VJ

SNOMEDCT_US:190792005

DO:DOID:14499

HPO:HP:0001071

OMIM:300644

NDFRT:N0000000411

LNC:LP113911-4

SNOMEDCT_US:236536000

ICD10CM:E75.21

OMIM:MTHU001048

LNC:MTHU036941

OMIM:301500

SNOMEDCT_US:124464003

LNC:LA14036-0

SNMI:D6-74600

MDR:10002458

label

Fabry Disease

MCID

MC00000923

PMOID

PMO:00036615

prefixIRI

pmo:PMO_00036615

prefLabel

Fabry Disease

Synonym

GLA deficiency

Sweeley-Klionsky disease

fabrys disease

Alpha-galactosidase A deficiency

Deficiency of alpha-galactosidase (disorder)

Ceramide trihexosidase deficiency

ANDERSON-FABRY DISEASE

CERAMIDE TRIHEXOSIDASE DEFICIENCY

Thesaurismosis lipoidica

Fabry's Disease

Ceramide Trihexosidase Deficiency

Lactosyl ceramidosis

angiokeratoma corporis diffusum

Angiokeratoma corporis diffusum

Cardiovasorenal syndrome

Ruiter-Pompen syndrome

Fabry's disease

Alpha galactosidase A deficiency

Deficiency, GLA

Thesaurismosis hereditaria

alpha-Galactosidase A Deficiency

Angiokeratoma corporis diffusm

ceramide trihexosidase deficiency

FABRY'S DISEASE

Angiokeratoma Diffuse

Trihexosidase deficiency disease

ALPHA-GALACTOSIDASE A DEFICIENCY

disease fabry

Fabry Disease [Disease/Finding]

deficiency of melibiase

Angiokeratoma Corporis Diffusum

Fabry (-Anderson) disease

Hereditary dystopic lipidosis

Anderson Fabry Disease

Angiokeratoma corporis diffusum universale

Fabry disease

GLA Deficiency

Alpha-Galactosidase A Deficiency

Fabry syndrome

alpha Galactosidase A Deficiency

alpha galactosidase deficiency

Alpha-galactosidase A deficiency (disorder)

fabri disease

GLA

Anderson-Fabry Disease

Deficiency, alpha-Galactosidase A

Angiokeratoma, Diffuse

ALPHA GALACTOSIDASE A DEFIC DIS

Fabry's disease (diagnosis)

GLA DEFICIENCY

FABRY DIS

Ceramide lactoside lipidosis

Hereditary Dystopic Lipidosis

alpha-Galactosidase A Deficiency Disease

Lipidosis, Hereditary Dystopic

Deficiency of alpha-galactosidase

Ceramide trihexosidase defic

ANGIOKERATOMA CORPORIS DIFFUSUM

Deficiency, Ceramide Trihexosidase

anderson-fabry disease

Diffuse Angiokeratoma

fabry disease

fabry's disease

thesaurismosis hereditaria

Anderson-Fabry disease

disease fabry's

alpha-Galactosidase-A deficiency

alpha Galactosidase A Deficiency Disease

FABRY DISEASE

HEREDITARY DYSTOPIC LIPIDOSIS

Fabry's disease (disorder)

Alpha-galactosidase A defic

Deficiency of melibiase

ceramide trihexosidosis

Tree Number

T9.11.1.2.2.4.2

T9.11.1.12.8.19.5.2

T9.11.1.12.3.7.5.2

T9.8.4.41.5

T9.8.4.14.7.5.4.2

T9.11.1.12.7.5.4.2

T9.8.4.14.8.19.5.2

T9.11.1.6.2.19.5.2

T9.11.1.2.6.5.4.2

T9.21.15.5.17.2.19.5.2

T9.21.15.5.22.2.4

T9.8.4.14.3.7.5.2

T9.20.2.30.2.4

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036611

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

http://www.phoc.org.cn/pmo/class/PMO_00038556

http://www.phoc.org.cn/pmo/class/PMO_00085968

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http://nanbyodata.jp/ontology/NANDO_2200563 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_14499 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14499 BMONT LOOM
http://nanbyodata.jp/ontology/NANDO_1200157 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 EFO LOOM
rgo:13286 GAMUTS LOOM
rgo:13286 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_14499 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14499 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fabry_Disease CSEO LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.253.329.374 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/301500 OMIM LOOM
http://localhost/plosthes.2017-1#1540613 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 KTAO LOOM
http://www.gamuts.net/entity#Fabry_disease GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIT_0002202 OMIT LOOM
http://purl.bioontology.org/ontology/LNC/MTHU036941 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_94 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002986 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15120 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.300 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D000795 MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000522 DERMO LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4 LOINC LOOM
http://id.nlm.nih.gov/mesh/D000795 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.200 RH-MESH LOOM
http://bmi.utah.edu/ontologies/hfontology/C0002986 HFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.300 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14499 NATPRO LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859267 ACVD_ONTOLOGY LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_01a40b76_217e_4e2c_9392_94eb44f0cfa5 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_01a40b76_217e_4e2c_9392_94eb44f0cfa5 CVAO LOOM
http://purl.obolibrary.org/obo/OMIM_301500 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.200 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1173 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000795 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.275.374 RH-MESH LOOM
http://identifiers.org/omim/301500 REXO LOOM
http://identifiers.org/omim/301500 GEXO LOOM
http://identifiers.org/omim/301500 RETO LOOM
http://www.co-ode.org/ontologies/galen#FabryDisease GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.300 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.124 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14499 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14499 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14499 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14499 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14499 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84701 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.200 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_324 ORDO LOOM