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ONTOLOGY REPORT - ANNOTATIONS


Term:Psychomotor Disorders
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Accession:DOID:9008514 term browser browse the term
Definition:Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.
Synonyms:exact_synonym: Developmental Psychomotor Disorder;   Developmental Psychomotor Disorders;   Psychomotor Impairment;   Psychomotor Impairments
 primary_id: MESH:D011596;   RDO:0001389
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Psychomotor Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:11554173
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:11554173
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Folr1 folate receptor alpha JBrowse link 1 166,934,457 166,945,864 RGD:11554173
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:11554173
G Vdac1 voltage-dependent anion channel 1 JBrowse link 10 37,724,915 37,752,827 RGD:11554173
AL-RAQAD SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcps decapping enzyme, scavenger JBrowse link 8 36,321,992 36,374,665 RGD:7240710
RGD:8554872
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:11554173
RGD:8554872
apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11554173
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
RGD:8554872
Asparagine Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asns asparagine synthetase (glutamine-hydrolyzing) JBrowse link 4 33,742,876 33,761,106 RGD:7240710
RGD:8554872
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:7240710
RGD:8554872
RGD:10054301
RGD:10054300
RGD:1599207
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Au-Kline Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpk heterogeneous nuclear ribonucleoprotein K JBrowse link 17 6,664,730 6,676,753 RGD:7240710
RGD:8554872
Bainbridge-Ropers Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asxl3 ASXL transcriptional regulator 3 JBrowse link 18 13,322,148 13,496,230 RGD:7240710
RGD:8554872
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:8554872
RGD:7240710
Bowen-Conradi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:7240710
RGD:8554872
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc1 ER membrane protein complex subunit 1 JBrowse link 5 157,820,908 157,846,226 RGD:8554872
RGD:7240710
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr88 G-protein coupled receptor 88 JBrowse link 2 219,258,346 219,263,819 RGD:8554872
RGD:7240710
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:7240710
RGD:8554872
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:7240710
RGD:8554872
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
fumarase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:7240710
RGD:8554872
Genitopatellar Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:7240710
RGD:8554872
RGD:9588485
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
RGD:7240710
HAREL-YOON SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
RGD:7240710
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smg9 SMG9 nonsense mediated mRNA decay factor JBrowse link 1 81,259,450 81,282,893 RGD:8554872
RGD:7240710
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:7240710
RGD:8554872
RGD:12911215
RGD:12914762
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
RGD:7240710
RGD:11528248
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbck TBC1 domain containing kinase JBrowse link 2 237,751,646 237,958,497 RGD:8554872
RGD:7240710
infantile cerebellar-retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:7240710
RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc174 coiled-coil domain containing 174 JBrowse link 4 123,760,708 123,787,529 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb5 G protein subunit beta 5 JBrowse link 8 82,248,951 82,286,493 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 4 145,264,445 145,280,943 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud6b OTU deubiquitinase 6B JBrowse link 5 28,333,019 28,350,093 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D JBrowse link 10 72,909,550 72,945,884 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:8554872
RGD:7240710
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 JBrowse link 11 35,011,007 35,262,362 RGD:7240710
RGD:8554872
Loucks-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dph1 diphthamide biosynthesis 1 JBrowse link 10 62,019,379 62,032,384 RGD:8554872
RGD:7240710
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
RGD:7240710
Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:8554872
RGD:7240710
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpc1 mitochondrial pyruvate carrier 1 JBrowse link 1 53,026,608 53,038,229 RGD:7240710
RGD:8554872
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Tgm6 transglutaminase 6 JBrowse link 3 122,644,183 122,680,054 RGD:8554872
Ogden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csnk2a1 casein kinase 2 alpha 1 JBrowse link 3 147,713,808 147,760,375 RGD:8554872
RGD:7240710
Opitz Trigonocephaly Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link 11 57,108,757 57,183,855 RGD:7240710
RGD:8554872
RGD:11554173
PHGDH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Strada STE20 related adaptor alpha JBrowse link 10 94,355,369 94,384,404 RGD:7240710
RGD:8554872
PSAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:7240710
RGD:8554872
PSPH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:7240710
RGD:8554872
Psychomotor Agitation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcyap1 adenylate cyclase activating polypeptide 1 JBrowse link 9 121,705,897 121,725,736 RGD:11554173
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:11554173
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:11554173
G Rai1 retinoic acid induced 1 JBrowse link 10 46,511,271 46,571,591 RGD:11554173
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snip1 Smad nuclear interacting protein 1 JBrowse link 15 19,275,273 19,282,753 RGD:7240710
RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:7240710
RGD:8554872
sepiapterin reductase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spr sepiapterin reductase JBrowse link 4 116,912,343 116,916,073 RGD:7240710
RGD:8554872
RGD:11554173
speech-language disorder-1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh18 cadherin 18 JBrowse link 2 73,651,408 74,693,342 RGD:8554872
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:7240710
RGD:8554872
RGD:11072822
RGD:11536000
RGD:11526862
RGD:11526702
RGD:11070093
G Immp2l inner mitochondrial membrane peptidase subunit 2 JBrowse link 6 60,958,351 61,859,457 RGD:8554872
G Lrrn3 leucine rich repeat neuronal 3 JBrowse link 6 61,374,328 61,405,195 RGD:8554872
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fibp FGF1 intracellular binding protein JBrowse link 1 220,840,078 220,844,412 RGD:8554872
RGD:7240710
Verheij Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Puf60 poly-U binding splicing factor 60 JBrowse link 7 117,129,237 117,140,234 RGD:7240710
RGD:8554872
ZTTK Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Son Son DNA binding protein JBrowse link 11 31,806,598 31,837,769 RGD:8554872
RGD:7240710

Term paths to the root
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Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Signs and Symptoms 4688
        Neurologic Manifestations 3589
          Neurobehavioral Manifestations 1926
            Psychomotor Disorders 71
              3p- syndrome 0
              AL-RAQAD SYNDROME 1
              ALAZAMI-YUAN SYNDROME 1
              Asparagine Synthetase Deficiency 1
              Au-Kline Syndrome 1
              Bainbridge-Ropers Syndrome 1
              Basel-Vanagaite-Smirin-Yosef syndrome 1
              Bowen-Conradi syndrome 1
              CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION 1
              Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
              Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
              Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
              De Hauwere Leroy Adriaenssens syndrome 0
              Developmental Delay, Epilepsy, and Neonatal Diabetes 1
              Diaminopentanuria 0
              Edinburgh Malformation Syndrome 0
              GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
              Genitopatellar Syndrome 2
              Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
              HAREL-YOON SYNDROME 1
              HEART AND BRAIN MALFORMATION SYNDROME 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
              Infantile Hypotonia with Psychomotor Retardation + 4
              Keppen-Lubinsky Syndrome 1
              Kozlowski Rafinski Klicharska Syndrome 0
              Loucks-Innes Syndrome 1
              MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 1
              MacDermot Winter Syndrome 0
              Megarbane Syndrome 0
              Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
              OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 1
              Ogden syndrome 1
              Opitz Trigonocephaly Syndrome 1
              PHGDH deficiency 2
              PSAT deficiency 1
              PSPH deficiency 1
              Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
              Psychomotor Agitation + 4
              Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
              THAUVIN-ROBINET-FAIVRE SYNDROME 1
              Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
              Verheij Syndrome 1
              ZTTK Syndrome 1
              apraxia + 15
              fumarase deficiency 1
              infantile cerebellar-retinal degeneration 2
              mitochondrial pyruvate carrier deficiency 1
              sepiapterin reductase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.