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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Fabry Disease | |
| Synonyms |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036615 |
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| 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
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| label |
Fabry Disease
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| MCID |
MC00000923
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| PMOID |
PMO:00036615
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| prefixIRI |
pmo:PMO_00036615
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| prefLabel |
Fabry Disease
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| 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
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| 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
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036611 http://www.phoc.org.cn/pmo/class/PMO_00036321 |
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