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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:apraxia
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Accession:DOID:0060135 term browser browse the term
Definition:An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO)
Synonyms:exact_synonym: Articulatory Dyspraxia;   CAS;   DVD;   Developmental Verbal Apraxia;   Dressing Apraxia;   Dyspraxia;   Dyspraxias;   Facial-Oral Apraxia;   Facial-Oral Apraxias;   Gestural Apraxia;   Gestural Apraxias;   Ideational Apraxia;   Ideational Apraxias;   Motor Apraxia;   Motor Apraxias;   Oral Apraxia;   Oral Apraxias;   Oral Dyspraxia;   Oral Dyspraxias;   apraxia of phonation;   apraxias;   articulatory apraxia;   articulatory apraxias;   articulatory dyspraxias;   developmental verbal apraxias;   developmental verbal dyspraxia;   developmental verbal dyspraxias;   dressing apraxias;   phonation apraxia;   phonation apraxias;   verbal apraxia;   verbal apraxias;   verbal dyspraxia;   verbal dyspraxias
 primary_id: MESH:D001072
 xref: GARD:5838;   ICD10CM:R48.2;   NCI:C180557



show annotations for term's descendants           Sort by:
apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA
CTD
ClinVar
PMID:15877281 PMID:16984964 PMID:17033973 PMID:25741868 PMID:27120335 More... NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:43,133,912...43,711,683
JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
CTD
ClinVar
PMID:11920851 PMID:15534188 PMID:25741868 NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
ClinVar
CTD
OMIM
RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207, RGD:10054301, RGD:10054300 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 | ClinVar Annotator: match by term: PIK3R5-related condition OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,132,603...53,199,374
JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies ClinVar
OMIM
PMID:35087184 NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
JBrowse link
ocular motor apraxia, Cogan type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Oculomotor apraxia - Cogan type ClinVar PMID:25741868 PMID:33024317 NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,673,637...101,699,986
Ensembl chr  X:97,380,390...97,406,702
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,809,192...101,860,935
Ensembl chr  X:97,515,972...97,567,657
JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,546,809...101,572,760
Ensembl chr  X:97,253,586...97,279,476
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,900,743...101,951,403
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:97,279,056...97,302,236
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,058,573...102,062,162
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892
JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16497722 PMID:18718938 PMID:21053371 PMID:22091964 PMID:23352160 More... NCBI chr  X:101,399,748...101,425,486
Ensembl chr  X:97,106,561...97,132,195
JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,428,785...101,479,207
Ensembl chr  X:97,135,500...97,185,854
JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,953,508...101,968,336
Ensembl chr  X:97,660,222...97,675,023
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960
JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,796,623...101,807,471
Ensembl chr  X:97,503,350...97,514,197
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:101,350,432...101,365,929
Ensembl chr  X:97,057,137...97,072,634
JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,716,656...101,777,105 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:101,385,686...101,395,371
Ensembl chr  X:97,092,388...97,099,309
JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,634,438...101,733,814
Ensembl chr  X:97,341,152...97,354,759
JBrowse link
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh18 cadherin 18 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:74,548,681...75,550,720
Ensembl chr 2:73,345,005...73,820,138
JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: Speech-language disorder 1
DNA:mutations:5' utr, exon, intron:multiple
DNA:missense mutation: :p.P215A (human)
DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
DNA:deletions: :multiple
DNA:missense mutation:exon:p.R553H (human)
OMIM
ClinVar
RGD
PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11526862, RGD:11536000, RGD:11070093, RGD:11526702, RGD:11072822 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:43,133,912...43,711,683
JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:63,797,189...64,696,906
Ensembl chr 6:58,070,283...58,969,840
JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:64,216,164...64,247,293
Ensembl chr 6:58,489,010...58,520,330
JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chr 2:218,687,413...218,750,104
Ensembl chr 2:216,013,005...216,074,750
JBrowse link
spinocerebellar ataxia with axonal neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:25326637 PMID:25741868 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Wieacker-Wolff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miles-Carpenter syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability | ClinVar Annotator: match by term: ZC4H2-related condition
OMIM
CTD
ClinVar
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Neurodevelopmental Disorders 6969
        communication disorder 421
          agnosia 76
            apraxia 34
              Alien Hand Syndrome 0
              Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia 2
              NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
              ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED 18
              Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 0
              Specific Language Impairment 4 0
              Wieacker-Wolff syndrome 1
              ataxia with oculomotor apraxia type 1 3
              ataxia with oculomotor apraxia type 3 1
              ataxia-oculomotor apraxia type 4 1
              gait apraxia 0
              ideomotor apraxia 0
              ocular motor apraxia, Cogan type 1
              speech-language disorder-1 5
              spinocerebellar ataxia with axonal neuropathy 2 3
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  communication disorder 421
                    agnosia 76
                      apraxia 34
                        Alien Hand Syndrome 0
                        Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia 2
                        NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
                        ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED 18
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 0
                        Specific Language Impairment 4 0
                        Wieacker-Wolff syndrome 1
                        ataxia with oculomotor apraxia type 1 3
                        ataxia with oculomotor apraxia type 3 1
                        ataxia-oculomotor apraxia type 4 1
                        gait apraxia 0
                        ideomotor apraxia 0
                        ocular motor apraxia, Cogan type 1
                        speech-language disorder-1 5
                        spinocerebellar ataxia with axonal neuropathy 2 3
paths to the root