RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Exercise Intolerance
Accession: DOID:9006878
browse the term
Definition: A symptom primarily found in cardiorespiratory disorders. It is also a common symptom in chronic fatigue syndrome.
Synonyms: exact_synonym: SLC25A32-RELATED CONDITION
narrow_synonym: Exercise-induced collapse; RREI; riboflavin-responsive exercise intolerance
primary_id: MIM:616839
alt_id: OMIA:001466
G
Dnm1
dynamin 1
ISO
Exercise-induced collapse
OMIA
PMID:9918153 PMID:18806795 PMID:18981194 PMID:19122058 PMID:21782486 PMID:21866517 PMID:22104507 PMID:23387942 PMID:23445289 PMID:24069350 PMID:27487345 PMID:27685362 PMID:30650096 PMID:34946876 PMID:37582787 More...
NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
G
Mt-cyb
mitochondrially encoded cytochrome b
ISO
ClinVar Annotator: match by term: Exercise intolerance
ClinVar
PMID:8186719 PMID:8910895 PMID:8988236 PMID:10502593 PMID:11464242 PMID:11506394 PMID:11782982 PMID:14520667 More...
NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
G
Slc25a32
solute carrier family 25 member 32
ISO
ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive | ClinVar Annotator: match by term: SLC25A32-related condition
OMIM ClinVar
PMID:25741868 PMID:26933868 PMID:28492532
NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all