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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:Motor Disorders
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Accession:DOID:9008297 term browser browse the term
Definition:Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-V)
Synonyms:primary_id: MESH:D000068079

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Motor Disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31174552 NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:36100143 NCBI chrNW_004955483:4,495,257...4,503,377 JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29326173 NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism OMIM
ClinVar		 PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 NCBI chrNW_004955452:9,487,725...9,623,565
Ensembl chrNW_004955452:9,487,725...9,624,066 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: KCNN2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities OMIM
ClinVar		 PMID:16002581 PMID:25741868 PMID:33242881 PMID:36746441 NCBI chrNW_004955408:34,223,523...34,366,191
Ensembl chrNW_004955408:34,109,334...34,368,114 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy ClinVar
OMIM		 PMID:25741868 PMID:29648665 PMID:35759269 NCBI chrNW_004955437:8,317,437...8,328,544
Ensembl chrNW_004955437:8,317,437...8,328,804 		JBrowse link
Term paths to the root