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Fabry disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0010526

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. [ Orphanet:324 ]

Synonyms: diffuse angiokeratoma Anderson-Fabry disease alpha galactosidase deficiency deficiency of melibiase Fabry disease Alpha-galactosidase A deficiency angiokeratoma corporis diffusum Fd Fabry's disease FD

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:8083 (MONDO:equivalentTo)
  • icd11.foundation:66996647 (Orphanet:324)
  • GARD:6400 (MONDO:GARD)
  • MESH:D000795 (Orphanet:324/e)
  • DOID:14499 (MONDO:equivalentTo)
  • SCTID:16652001 (MONDO:equivalentTo)
  • MedDRA:10016016 (Orphanet:324/e)
  • OMIM:301500 (Orphanet:324/e)
  • NORD:1115 (MONDO:NORD)
  • UMLS:C0002986 (MONDO:equivalentTo)
  • Orphanet:324 (OMIM:301500)
  • NANDO:2200563 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:1200157 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C84701 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, clingen, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, orphanet_rare, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_metabolic_disease

abbreviation
FD [ Orphanet:324 ]

ClinGen label
Fabry disease [ icd11.foundation:66996647 https://omim.org/entry/301500 DOID:14499 NCIT:C84701 Orphanet:324 ]

closeMatch

http://identifiers.org/meddra/10016016

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0010526

exactMatch

http://www.orpha.net/ORDO/Orphanet_324

http://identifiers.org/mesh/D000795

http://purl.obolibrary.org/obo/NCIT_C84701

http://identifiers.org/snomedct/16652001

http://linkedlifedata.com/resource/umls/id/C0002986

https://omim.org/entry/301500

http://identifiers.org/medgen/8083

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/66996647

http://purl.obolibrary.org/obo/DOID_14499

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0019293

http://purl.obolibrary.org/obo/MONDO_0020127

http://purl.obolibrary.org/obo/MONDO_0019743

http://purl.obolibrary.org/obo/MONDO_0019520

http://purl.obolibrary.org/obo/MONDO_0016340

has related synonym

ceramide trihexosidase deficiency

Fabry disease, Cardiac variant

Gla deficiency

angiokeratoma, diffuse

hereditary dystopic lipidosis

id

MONDO:0010526

term tracker item

https://github.com/monarch-initiative/mondo/issues/5682