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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:A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)
Synonyms:exact_synonym: Articulatory Dyspraxia;   Articulatory Dyspraxias;   CAS;   DVD;   Developmental Verbal Apraxia;   Developmental Verbal Apraxias;   Developmental Verbal Dyspraxias;   Dressing Apraxia;   Dressing Apraxias;   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;   Phonation Apraxia;   Phonation Apraxias;   Verbal Apraxia;   Verbal Apraxias;   apraxia of phonation;   apraxias;   articulatory apraxia;   articulatory apraxias;   developmental verbal dyspraxia;   verbal dyspraxia;   verbal dyspraxias
 primary_id: MESH:D001072
 xref: GARD:5838;   ICD10CM:R48.2
For additional species annotation, visit the Alliance of Genome Resources.


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apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr14:98,029,018...98,124,181
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:17033973 PMID:27120335 PMID:28492532 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Apraxias ClinVar PMID:32581362 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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 1:79,353,924...79,357,852
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 6:103,323,014...103,375,088
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 ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by OMIM:208920
OMIM
ClinVar
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 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: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 3:12,428,091...12,480,801
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-oculomotor apraxia 3
ClinVar Annotator: match by OMIM:615217
OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
JBrowse link
Ataxia-Oculomotor Apraxia 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 4 OMIM
ClinVar
PMID:10446192 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 More... NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
JBrowse link
Miles-Carpenter 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: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome
CTD
ClinVar
OMIM
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
ocular motor apraxia, Cogan type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 More... NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:28492532 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia
OMIM
ClinVar
PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 More... NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195
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: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:72,818,076...73,820,144
Ensembl chr 2:73,345,005...73,820,138
JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: Speech-language disorder 1
ClinVar Annotator: match by OMIM:602081
DNA:missense mutation:exon:p.R553H (human)
DNA:missense mutation: :p.P215A (human)
DNA:mutations:5' utr, exon, intron:multiple
DNA:deletions: :multiple
DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
OMIM
ClinVar
PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 NCBI chr 4:43,133,827...43,712,442
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: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:58,070,035...58,970,165 JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 6:58,489,060...58,520,322
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: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar
OMIM
PMID:25741868 PMID:31206972 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 17205
    Developmental Disease 10918
      Neurodevelopmental Disorders 5688
        communication disorder 289
          agnosia 33
            apraxia 20
              Alien Hand Syndrome 0
              Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia 2
              Ataxia-Oculomotor Apraxia 4 1
              Miles-Carpenter syndrome + 2
              Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 2
              Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
              Specific Language Impairment 4 0
              ataxia with oculomotor apraxia type 1 3
              ataxia with oculomotor apraxia type 3 1
              gait apraxia 0
              ideomotor apraxia 0
              ocular motor apraxia, Cogan type 2
              speech-language disorder-1 5
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  communication disorder 289
                    agnosia 33
                      apraxia 20
                        Alien Hand Syndrome 0
                        Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia 2
                        Ataxia-Oculomotor Apraxia 4 1
                        Miles-Carpenter syndrome + 2
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 2
                        Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 1
                        Specific Language Impairment 4 0
                        ataxia with oculomotor apraxia type 1 3
                        ataxia with oculomotor apraxia type 3 1
                        gait apraxia 0
                        ideomotor apraxia 0
                        ocular motor apraxia, Cogan type 2
                        speech-language disorder-1 5
paths to the root