PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Angiokeratoma Corporis Diffusum

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00009111

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

equivalentClass

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

label

Angiokeratoma Corporis Diffusum

MCID

MC00000923

PMOID

PMO:00009111

prefixIRI

pmo:PMO_00009111

prefLabel

Angiokeratoma Corporis Diffusum

Synonym

GLA deficiency

Sweeley-Klionsky disease

fabrys disease

Alpha-galactosidase A deficiency

Deficiency of alpha-galactosidase (disorder)

Ceramide trihexosidase deficiency

Thesaurismosis lipoidica

Lactosyl ceramidosis

Angiokeratoma corporis diffusum

Cardiovasorenal syndrome

Ruiter-Pompen syndrome

Deficiency, GLA

Thesaurismosis hereditaria

Angiokeratoma corporis diffusm

FABRY'S DISEASE

Angiokeratoma Diffuse

Trihexosidase deficiency disease

disease fabry

Fabry Disease [Disease/Finding]

Fabry (-Anderson) disease

Hereditary dystopic lipidosis

Anderson Fabry Disease

Angiokeratoma corporis diffusum universale

Fabry syndrome

alpha Galactosidase A Deficiency

alpha galactosidase deficiency

Alpha-galactosidase A deficiency (disorder)

fabri disease

GLA

Deficiency, alpha-Galactosidase A

Fabry Disease

Angiokeratoma, Diffuse

ALPHA GALACTOSIDASE A DEFIC DIS

Fabry's disease (diagnosis)

FABRY DIS

Ceramide lactoside lipidosis

alpha-Galactosidase A Deficiency Disease

Lipidosis, Hereditary Dystopic

Deficiency of alpha-galactosidase

Ceramide trihexosidase defic

Deficiency, Ceramide Trihexosidase

Diffuse Angiokeratoma

Anderson-Fabry disease

disease fabry's

alpha-Galactosidase-A deficiency

alpha Galactosidase A Deficiency Disease

Fabry's disease (disorder)

Alpha-galactosidase A defic

Deficiency of melibiase

ceramide trihexosidosis

Tree Number

T3.14.1.1.3.3.6.1

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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