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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Psychomotor Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chrNW_004936530:7,543,743...7,621,392 JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:1335535 NCBI chrNW_004936496:7,759,656...7,761,555 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chrNW_004936728:706,499...843,447 JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732866 NCBI chrNW_004936498:1,489,916...1,497,200 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20098342 NCBI chrNW_004936809:902,938...967,771 JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8955270 NCBI chrNW_004936624:3,897,878...4,005,664 JBrowse link
G Vdac1 voltage dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chrNW_004936647:1,220,075...1,249,579 JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO OMIM NCBI chrNW_004936572:5,861,391...5,899,757 JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO OMIM NCBI chrNW_004936543:250,174...256,405 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 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 NCBI chrNW_004936488:2,464,623...2,528,807 JBrowse link
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 chrNW_004936491:6,021,340...6,118,103 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:25741868, PMID:27120335, PMID:28492532, PMID:30311386 NCBI chrNW_004936589:4,120,162...4,661,258 JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Apraxias ClinVar PMID:32581362 NCBI chrNW_004936531:8,062,441...8,320,287 JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO OMIM NCBI chrNW_004936585:2,834,202...2,854,740 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) OMIM
RGD
PMID:12196655 RGD:1599207 NCBI chrNW_004936524:1,569,610...1,582,103 JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936664:3,649,020...3,656,545 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chrNW_004936487:18,858,384...18,945,253 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 OMIM NCBI chrNW_004936595:2,029,074...2,053,954 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 OMIM NCBI chrNW_004936664:3,649,020...3,656,545 JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO OMIM NCBI chrNW_004936828:827,660...839,088 JBrowse link
Bainbridge-Ropers Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl3 ASXL transcriptional regulator 3 ISO OMIM NCBI chrNW_004936517:11,064,986...11,074,992 JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO OMIM NCBI chrNW_004936664:3,610,004...3,629,850 JBrowse link
Bowen-Conradi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO OMIM NCBI chrNW_004936709:847,229...854,471 JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO OMIM NCBI chrNW_004936834:432,538...522,118 JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO OMIM NCBI chrNW_004936474:5,512,100...5,539,198 JBrowse link
Childhood-Onset Chorea with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr88 G protein-coupled receptor 88 ISO OMIM NCBI chrNW_004936748:657,876...662,831 JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO OMIM NCBI chrNW_004936474:8,262,913...8,319,089 JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO OMIM NCBI chrNW_004936519:3,038,895...3,061,215 JBrowse link
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: DEND syndrome ClinVar PMID:25741868 NCBI chrNW_004936528:1,685,015...1,688,220 JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chrNW_004936526:8,833,921...8,844,484 JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chrNW_004936526:8,570,488...8,627,004 JBrowse link
G Fh fumarate hydratase ISO OMIM NCBI chrNW_004936526:8,936,096...8,965,155 JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chrNW_004936526:8,877,085...8,928,280 JBrowse link
G Map1lc3c microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chrNW_004936526:8,492,840...8,497,028 JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chrNW_004936526:8,833,495...8,876,631 JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chrNW_004936526:8,055,190...8,447,854 JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chrNW_004936526:8,689,313...8,821,950 JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar PMID:12210329, PMID:12210330, PMID:16761293, PMID:22077973, PMID:22265014, PMID:22265017, PMID:25424711, PMID:25741868, PMID:28492532, PMID:32424177 NCBI chrNW_004936521:4,267,619...4,305,481 JBrowse link
G Kat6b lysine acetyltransferase 6B ISO OMIM NCBI chrNW_004936521:4,309,699...4,497,755 JBrowse link
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO OMIM NCBI chrNW_004936470:8,092,758...8,096,277 JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME 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 OMIM NCBI chrNW_004936706:908,471...929,075 JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO OMIM NCBI chrNW_004936492:407,482...452,538 JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868, PMID:30689204, PMID:31130284, PMID:32519519 NCBI chrNW_004936492:395,348...407,588 JBrowse link
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc174 coiled-coil domain containing 174 ISO OMIM NCBI chrNW_004936602:360,048...374,960 JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO OMIM NCBI chrNW_004936472:9,502,054...9,789,714 JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO OMIM NCBI chrNW_004936845:268,357...454,557 JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO OMIM NCBI chrNW_004936814:837,394...1,052,220 JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO OMIM NCBI chrNW_004936471:13,952,462...14,001,663 JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brpf1 bromodomain and PHD finger containing 1 ISO OMIM NCBI chrNW_004936602:3,419,873...3,436,119 JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud6b OTU deubiquitinase 6B ISO OMIM NCBI chrNW_004936544:4,688,332...4,705,304 JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D ISO OMIM NCBI chrNW_004936490:2,139,201...2,183,850 JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 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 OMIM NCBI chrNW_004936491:6,021,340...6,118,103 JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly rectifying channel subfamily J member 6 ISO OMIM NCBI chrNW_004936500:5,002,668...5,164,511 JBrowse link
Loucks-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO OMIM NCBI chrNW_004936538:8,100,977...8,110,704 JBrowse link
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chrNW_004936606:1,201,420...1,713,894 JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO OMIM NCBI chrNW_004936471:24,142,227...24,330,966 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 OMIM NCBI chrNW_004936635:2,924,632...2,954,003 JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpc1 mitochondrial pyruvate carrier 1 ISO OMIM NCBI chrNW_004936489:16,179,321...16,181,991 JBrowse link
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936485:16,192,808...16,220,267 JBrowse link
Ogden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO OMIM NCBI chrNW_004936809:812,454...817,226 JBrowse link
Okur-Chung Neurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO OMIM NCBI chrNW_004936485:17,966,993...18,021,191 JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH DEFICIENCY ClinVar NCBI chrNW_004936627:4,451,847...4,473,163 JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO OMIM NCBI chrNW_004936627:4,414,122...4,448,347 JBrowse link
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strada STE20 related adaptor alpha ISO OMIM NCBI chrNW_004936541:4,352,613...4,385,499 JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO OMIM NCBI chrNW_004936632:4,392,165...4,422,670 JBrowse link
PSPH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psph phosphoserine phosphatase ISO OMIM NCBI chrNW_004936543:7,900,319...7,922,529 JBrowse link
Psychomotor Agitation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17658665 NCBI chrNW_004936672:3,461,387...3,468,053 JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chrNW_004936606:2,168,104...2,867,560 JBrowse link
G Mapt microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:24556215 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Restlessness ClinVar PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10732818, PMID:10869114, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28696419, PMID:29683944, PMID:30311386 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18285828 NCBI chrNW_004936741:1,332,353...1,408,116 JBrowse link
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snip1 Smad nuclear interacting protein 1 ISO OMIM NCBI chrNW_004936474:19,760,653...19,778,224 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:9526012, PMID:10996561, PMID:18414213, PMID:18718967, PMID:19286491, PMID:19292755, PMID:20384727, PMID:20890276, PMID:21499247, PMID:21507155, PMID:22833210, PMID:23033978, PMID:23294109, PMID:23408766, PMID:23933818, PMID:23933819, PMID:23933820, PMID:23940648, PMID:24455489, PMID:24463507, PMID:24504326, PMID:24903190, PMID:25164438, PMID:25596506, PMID:25726841, PMID:25741868, PMID:25904555, PMID:26220384, PMID:26283219, PMID:26467025, PMID:26601054, PMID:26648591, PMID:27171548, PMID:27288002, PMID:27640074, PMID:27839871, PMID:28492532, PMID:28936771, PMID:29124671, PMID:29358611 NCBI chrNW_004936530:8,286,101...8,612,183 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 OMIM NCBI chrNW_004936584:5,855,818...5,879,478 JBrowse link
sepiapterin reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spr sepiapterin reductase ISO OMIM NCBI chrNW_004936491:16,693,940...16,699,040 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 chrNW_004936480:21,444,839...21,897,520 JBrowse link
G Foxp2 forkhead box P2 no_association ISO DNA:missense mutation: :p.P215A (human) OMIM
RGD
PMID:19352412 RGD:11536000 NCBI chrNW_004936589:4,120,162...4,661,258 JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chrNW_004936653:3,268,229...3,543,173 JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chrNW_004936653:3,667,518...3,702,203 JBrowse link
G Zgrf1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chrNW_004936563:3,372,603...3,455,123 JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO OMIM NCBI chrNW_004936599:3,652,889...3,657,171 JBrowse link
Verheij Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Puf60 poly(U) binding splicing factor 60 ISO OMIM NCBI chrNW_004936470:8,336,852...8,348,335 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 chrNW_004936635:2,580,693...2,690,297 JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO OMIM NCBI chrNW_004936635:2,924,632...2,954,003 JBrowse link
ZTTK Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Son SON DNA and RNA binding protein ISO OMIM NCBI chrNW_004936500:8,721,155...8,752,906 JBrowse link

Term paths to the root
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Term Annotations click to browse term
  disease 11962
    Pathological Conditions, Signs and Symptoms 7204
      Signs and Symptoms 4446
        Neurologic Manifestations 3854
          Neurobehavioral Manifestations 2285
            Psychomotor Disorders 81
              3p deletion 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
              C syndrome 1
              Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
              Childhood-Onset Chorea with 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
              HEART AND BRAIN MALFORMATION SYNDROME 1
              Harel-Yoon Syndrome 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 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
              Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
              Keppen-Lubinsky Syndrome 1
              Kozlowski Rafinski Klicharska Syndrome 0
              Loucks-Innes Syndrome 1
              MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 2
              MacDermot Winter Syndrome 0
              Megarbane Syndrome 0
              Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
              Ogden syndrome 1
              Okur-Chung Neurodevelopmental 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 + 5
              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 + 17
              fumarase deficiency 8
              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.