Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Friedreich Ataxia
Synonyms
Definitions

An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.
ID

http://purl.obolibrary.org/obo/NCIT_C84718
code

C84718
Contributing_Source

Cellosaurus
definition

An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.
in_subset

http://purl.obolibrary.org/obo/NCIT_C165258
label

Friedreich Ataxia
Preferred_Name

Friedreich Ataxia
prefixIRI

NCIT:C84718
prefLabel

Friedreich Ataxia
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0016719
subClassOf

http://purl.obolibrary.org/obo/NCIT_C176696

http://purl.obolibrary.org/obo/NCIT_C53543

http://purl.obolibrary.org/obo/NCIT_C140268
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urn:agi-folder:friedreich_ataxia BPT LOOM
http://www.orpha.net/ORDO/Orphanet_95 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038582 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906072968387836 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/G11.11 ICD10CM LOOM
http://purl.obolibrary.org/obo/OMIM_229300 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_45 HRDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12705 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.825.200 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84718 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.854.787.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0100339 DOVES LOOM
http://purl.obolibrary.org/obo/OGMD_0000066 OGMD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.300 RH-MESH LOOM
rgo:13244 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5262 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/229300 OMIM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719 MEDLINEPLUS LOOM
http://id.nlm.nih.gov/mesh/D005621 MDM LOOM
http://radlex.org/RID/RID5152 RADLEX LOOM
http://purl.obolibrary.org/obo/OMIT_0006824 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.252.700.150 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Friedreich_Ataxia CSEO LOOM
http://purl.obolibrary.org/obo/DOID_12705 CLO LOOM
http://purl.obolibrary.org/obo/DOID_12705 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12705 DOID LOOM
http://purl.obolibrary.org/obo/DOID_12705 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12705 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12705 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12705 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12705 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005621 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D005621 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/10394003 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/F140. RCD LOOM
http://identifiers.org/omim/229300 REXO LOOM
http://identifiers.org/omim/229300 GEXO LOOM
http://identifiers.org/omim/229300 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.780.200 RH-MESH LOOM