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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 chr16:8,513,429...8,621,568
Ensembl chr16:8,513,429...8,621,568
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:1335535 NCBI chr 3:19,693,401...19,695,396
Ensembl chr 3:19,693,401...19,695,396
JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr14:32,513,291...32,580,990
Ensembl chr14:32,513,521...32,580,990
JBrowse link
G Folr1 folate receptor 1 (adult) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732866 NCBI chr 7:101,858,331...101,870,788
Ensembl chr 7:101,858,331...101,870,788
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20098342 NCBI chr  X:74,026,592...74,085,690
Ensembl chr  X:74,026,592...74,135,363
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8955270 NCBI chr  X:159,255,665...159,368,244
Ensembl chr  X:159,210,307...159,368,244
JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr11:52,360,851...52,389,397
Ensembl chr11:52,360,860...52,389,397
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 ClinVar Annotator: match by term: AL-RAQAD SYNDROME OMIM
ClinVar
PMID:25701870, PMID:25712129, PMID:25741868, PMID:28492532, PMID:30289615 NCBI chr 9:35,124,414...35,175,987
Ensembl chr 9:35,124,408...35,176,061
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 ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr 5:138,178,617...138,187,451
Ensembl chr 5:138,178,617...138,187,451
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 chr12:83,688,152...83,735,095
Ensembl chr12:83,688,152...83,735,199
JBrowse link
apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a B cell CLL/lymphoma 11A (zinc finger protein) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
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 chr 6:14,901,349...15,441,977
Ensembl chr 6:14,901,349...15,441,977
JBrowse link
G Sil1 endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Apraxias ClinVar PMID:32581362 NCBI chr18:35,266,396...35,499,390
Ensembl chr18:35,266,396...35,499,780
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 ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by OMIM:615574
OMIM
ClinVar
PMID:24139043, PMID:25741868, PMID:25758715, PMID:27469131, PMID:27522229, PMID:28492532, PMID:28776279, PMID:29375865, PMID:29405484 NCBI chr 6:7,675,165...7,693,209
Ensembl chr 6:7,675,169...7,693,254
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, PMID:12629250, PMID:14506070, PMID:15164193, PMID:15365154, PMID:15596775, PMID:15699391, PMID:15790557, PMID:15852392, PMID:15996403, PMID:16400613, PMID:16700949, PMID:17242337, PMID:21465257, PMID:23659632, PMID:24033266, PMID:25637650, PMID:25741868, PMID:26285866, PMID:26467025, PMID:28492532, PMID:28652255, PMID:28881617, PMID:29356829, PMID:29482223, PMID:32214227, PMID:21465257, PMID:17572444, PMID:12196655 RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 4:40,682,078...40,721,667
Ensembl chr 4:40,682,382...40,703,194
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 chr 7:44,856,479...44,865,337
Ensembl chr 7:44,857,139...44,862,992
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 2:29,123,588...29,182,471
Ensembl chr 2:29,124,181...29,182,471
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 OMIM:615217 OMIM
ClinVar
PMID:22065524 NCBI chr11:68,432,125...68,497,849
Ensembl chr11:68,432,121...68,497,849
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:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr 7:44,856,479...44,865,337
Ensembl chr 7:44,857,139...44,862,992
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 ClinVar Annotator: match by term: AU-KLINE SYNDROME OMIM
ClinVar
PMID:8833161, PMID:9218800, PMID:9234727, PMID:10523673, PMID:10817758, PMID:10995551, PMID:11574481, PMID:11867641, PMID:11891683, PMID:12183465, PMID:12853611, PMID:15170860, PMID:15284851, PMID:15364910, PMID:16488668, PMID:18054780, PMID:18414213, PMID:19170760, PMID:19348700, PMID:19854944, PMID:20116073, PMID:21800092, PMID:22102872, PMID:23455423, PMID:24253303, PMID:24288371, PMID:24501764, PMID:24990929, PMID:25741868, PMID:26173930, PMID:26220823, PMID:26954065, PMID:28374925, PMID:28771707, PMID:29904177, PMID:30998304 NCBI chr13:58,391,132...58,403,343
Ensembl chr13:58,391,142...58,403,343
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 ClinVar Annotator: match by term: Bainbridge-Ropers syndrome
ClinVar Annotator: match by OMIM:615485
OMIM
ClinVar
PMID:21706002, PMID:23383720, PMID:24044690, PMID:25326635, PMID:25363760, PMID:25741868, PMID:26647312, PMID:27075689, PMID:27901041, PMID:28100473, PMID:28492532, PMID:28955728, PMID:29305346, PMID:29367179, PMID:32581362, PMID:32860008 NCBI chr18:22,344,077...22,530,227
Ensembl chr18:22,344,246...22,530,227
Ensembl chr18:22,344,246...22,530,227
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 ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817, PMID:25741868, PMID:25792360, PMID:28492532, PMID:30039206 NCBI chr 7:44,876,765...44,892,705
Ensembl chr 7:44,876,765...44,892,712
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
IEA
OMIM:211180
ClinVar Annotator: match by OMIM:211180
OMIM
MouseDO
ClinVar
PMID:19463982 NCBI chr 6:124,704,370...124,712,186
Ensembl chr 6:124,704,085...124,712,178
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 antigen ISO ClinVar Annotator: match by term: C syndrome
ClinVar Annotator: match by OMIM:211750
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17847009, PMID:25741868, PMID:28492532 NCBI chr16:46,035,652...46,120,248
Ensembl chr16:46,035,657...46,120,251
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 ClinVar Annotator: match by term: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar
OMIM
PMID:25741868, PMID:26942288, PMID:27657687, PMID:28492532 NCBI chr 4:139,352,587...139,378,735
Ensembl chr 4:139,352,587...139,378,730
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 ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation ClinVar
OMIM
PMID:27123486 NCBI chr 3:116,249,654...116,253,540
Ensembl chr 3:116,249,654...116,253,503
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 (K)-specific demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
OMIM
ClinVar
PMID:23020937, PMID:24838796, PMID:25741868, PMID:26656649 NCBI chr 4:136,550,533...136,602,787
Ensembl chr 4:136,550,540...136,602,723
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 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:15902551, PMID:22243965, PMID:22508683, PMID:31194315 NCBI chr 3:63,942,323...63,964,733
Ensembl chr 3:63,933,507...63,964,768
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 chr 7:46,097,123...46,100,952
Ensembl chr 7:46,093,953...46,100,764
JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml choroideremia-like ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:175,682,237...175,688,353
Ensembl chr 1:175,682,237...175,692,901
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 chr 1:175,880,768...175,911,396
Ensembl chr 1:175,880,581...175,913,489
JBrowse link
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Fumarase deficiency
ClinVar Annotator: match by term: Fumaric aciduria
ClinVar Annotator: match by term: Fumarate Hydratase Deficiency
ClinVar Annotator: match by OMIM:606812
OMIM
ClinVar
PMID:2314594, PMID:8007976, PMID:8200987, PMID:9300800, PMID:9635293, PMID:9665847, PMID:10896297, PMID:11585823, PMID:11865300, PMID:12761039, PMID:12772087, PMID:14632190, PMID:15221078, PMID:15663510, PMID:15761418, PMID:15937070, PMID:15987702, PMID:16029320, PMID:16151915, PMID:16206287, PMID:16237213, PMID:16288654, PMID:16309500, PMID:16403393, PMID:16510303, PMID:16575891, PMID:16597677, PMID:16639410, PMID:16757530, PMID:16876016, PMID:16881969, PMID:17182618, PMID:17270241, PMID:17392716, PMID:17768033, PMID:17960613, PMID:18176756, PMID:18313410, PMID:18366737, PMID:18503824, PMID:18514489, PMID:19151755, PMID:19339519, PMID:19470762, PMID:19939761, PMID:19967458, PMID:20231875, PMID:20549362, PMID:20618355, PMID:21051878, PMID:21304509, PMID:21340633, PMID:21398687, PMID:21404119, PMID:21445611, PMID:21447597, PMID:21520333, PMID:21560188, PMID:21630274, PMID:21733559, PMID:21904061, PMID:21929734, PMID:22069215, PMID:22086304, PMID:22127509, PMID:22243733, PMID:22382802, PMID:22473397, PMID:22528940, PMID:22561013, PMID:22565324, PMID:22595425, PMID:22703879, PMID:22764886, PMID:23203078, PMID:23211287, PMID:23320739, PMID:23612258, PMID:24182348, PMID:24334767, PMID:24346898, PMID:24419633, PMID:24441663, PMID:24625422, PMID:24684806, PMID:24728327, PMID:25004247, PMID:25292446, PMID:25326637, PMID:25477250, PMID:25525159, PMID:25613812, PMID:25637381, PMID:25741868, PMID:25750977, PMID:25852058, PMID:25913776, PMID:25923021, PMID:25985877, PMID:26023681, PMID:26173633, PMID:26323704, PMID:26457356, PMID:26574848, PMID:26700204, PMID:26900816, PMID:26983443, PMID:27037871, PMID:27541980, PMID:28196407, PMID:28266706, PMID:28300276, PMID:28492532, PMID:28747166, PMID:28825054, PMID:28873162, PMID:29423582, PMID:29456767, PMID:29909963, PMID:30050099, PMID:30311386, PMID:30548481, PMID:30761759, PMID:30967997, PMID:31444830, PMID:31746132 NCBI chr 1:175,601,378...175,625,635
Ensembl chr 1:175,600,374...175,625,635
JBrowse link
G Ighv1-47 immunoglobulin heavy variable 1-47 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr12:114,991,108...114,991,401
Ensembl chr12:114,991,108...114,991,580
JBrowse link
G Kmo kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:175,632,193...175,660,853
Ensembl chr 1:175,620,381...175,662,116
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 chr 1:175,662,421...175,692,901
Ensembl chr 1:175,662,421...175,692,776
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 chr 1:175,962,301...176,281,512
Ensembl chr 1:175,962,306...176,275,312
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 chr 1:175,698,569...175,815,734
Ensembl chr 1:175,698,593...175,815,734
JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
ClinVar PMID:12210329, PMID:12210330, PMID:16761293, PMID:22077973, PMID:22265014, PMID:22265017, PMID:25424711, PMID:25741868, PMID:28492532, PMID:32424177 NCBI chr14:21,676,565...21,714,576
Ensembl chr14:21,676,537...21,714,576
JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by OMIM:606170
OMIM
ClinVar
PMID:12210329, PMID:12210330, PMID:16761293, PMID:22077973, PMID:22265014, PMID:22265017, PMID:24033266, PMID:25326635, PMID:25424711, PMID:25473036, PMID:25741868, PMID:25937001, PMID:28492532, PMID:32424177, PMID:22265017 RGD:9588485 NCBI chr14:21,499,216...21,672,478
Ensembl chr14:21,481,434...21,672,478
JBrowse link
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpaa1 GPI anchor attachment protein 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 ClinVar
OMIM
PMID:25741868, PMID:29100095 NCBI chr15:76,331,294...76,334,900
Ensembl chr15:76,331,231...76,334,907
JBrowse link
Harel-Yoon Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: HAREL-YOON SYNDROME
ClinVar Annotator: match by term: Harel-Yoon syndrome
ClinVar
OMIM
PMID:25741868, PMID:27640307, PMID:30311386 NCBI chr 4:155,740,640...155,761,124
Ensembl chr 4:155,740,641...155,761,093
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 smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) ISO ClinVar Annotator: match by term: Heart and brain malformation syndrome ClinVar
OMIM
PMID:27018474 NCBI chr 7:24,397,517...24,422,777
Ensembl chr 7:24,399,619...24,422,778
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, mitochondrial ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar Annotator: match by OMIM:614559
OMIM
ClinVar
PMID:22405087, PMID:24088041, PMID:25351951, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30689204, PMID:31130284, PMID:32214227, PMID:32519519 NCBI chr15:81,872,463...81,915,137
Ensembl chr15:81,872,309...81,915,133
JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide 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 chr15:81,915,030...81,926,247
Ensembl chr15:81,888,228...81,926,240
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 ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION ClinVar
OMIM
PMID:26358778 NCBI chr 6:91,843,154...91,899,849
Ensembl chr 6:91,878,053...91,899,843
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 ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
OMIM
ClinVar
PMID:23749988, PMID:24075186, PMID:25683120, PMID:25741868, PMID:26923739, PMID:27214504, PMID:27473021, PMID:27558372, PMID:27633718, PMID:28133733, PMID:28492532, PMID:30167850, PMID:23749988, PMID:24075186 RGD:12911215, RGD:12914762 NCBI chr14:123,275,678...123,627,330
Ensembl chr14:123,276,634...123,627,144
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, NALCN activator ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by OMIM:616801
ClinVar
OMIM
PMID:1122901, PMID:14534265, PMID:17448995, PMID:17825559, PMID:19092807, PMID:19348700, PMID:19854944, PMID:21040849, PMID:22542183, PMID:24033266, PMID:24267886, PMID:25741868, PMID:26545877, PMID:26708751, PMID:26708753, PMID:28492532, PMID:28708303, PMID:30167850, PMID:26545877 RGD:11528248 NCBI chr 1:66,467,915...66,699,150
Ensembl chr 1:66,468,367...66,699,148
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 ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy
ClinVar
OMIM
PMID:18541960, PMID:23977024, PMID:25558065, PMID:25741868, PMID:27040691, PMID:27040692, PMID:27275012, PMID:27748029, PMID:28492532, PMID:29283439, PMID:32576985, PMID:32860008 NCBI chr 3:132,684,113...132,841,688
Ensembl chr 3:132,684,144...132,841,688
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 guanine nucleotide binding protein (G protein), beta 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac arrhythmia
ClinVar
OMIM
PMID:10648734, PMID:12904457, PMID:18094259, PMID:21883221, PMID:25741868, PMID:27523599, PMID:27677260 NCBI chr 9:75,306,288...75,345,923
Ensembl chr 9:75,306,288...75,345,876
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 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis
ClinVar
OMIM
PMID:25741868, PMID:27939639, PMID:27939640 NCBI chr 6:113,306,863...113,324,862
Ensembl chr 6:113,307,137...113,324,860
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 domain containing 6B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ClinVar
OMIM
PMID:25741868, PMID:28343629 NCBI chr 4:14,809,505...14,826,413
Ensembl chr 4:14,809,498...14,826,587
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 1D magnesium-dependent, delta isoform ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
ClinVar
OMIM
PMID:18265945, PMID:22065775, PMID:23242139, PMID:23907125, PMID:24262437, PMID:24267886, PMID:24911145, PMID:25356970, PMID:25741868, PMID:26823519, PMID:26847329, PMID:27479843, PMID:28135719, PMID:28343630, PMID:28852847, PMID:29752822, PMID:30216591, PMID:30388424 NCBI chr11:85,311,254...85,347,071
Ensembl chr11:85,311,244...85,347,066
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 B cell CLL/lymphoma 11A (zinc finger protein) ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin
ClinVar
OMIM
PMID:10744719, PMID:11161790, PMID:11347906, PMID:12196208, PMID:12717432, PMID:15465497, PMID:15548577, PMID:16704730, PMID:17021036, PMID:17964244, PMID:19616629, PMID:20623620, PMID:22491945, PMID:22542183, PMID:23230003, PMID:24267886, PMID:24810580, PMID:25363760, PMID:25533962, PMID:25741868, PMID:25938782, PMID:25979662, PMID:26182416, PMID:27453576, PMID:28589569, PMID:28891213, PMID:28960836, PMID:31474318 NCBI chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
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 ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar
PMID:19610118, PMID:25620207, PMID:25741868 NCBI chr16:94,744,980...94,997,696
Ensembl chr16:94,748,636...94,997,701
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 ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
ClinVar
OMIM
PMID:14744934, PMID:24895408, PMID:25558065, PMID:25741868, PMID:26220823 NCBI chr11:75,177,643...75,190,483
Ensembl chr11:75,177,643...75,191,241
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 chr 6:119,570,796...119,848,184
Ensembl chr 6:119,570,796...119,848,167
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation
ClinVar
OMIM
PMID:25741868, PMID:26138117, PMID:26153217, PMID:27108999, PMID:28492532 NCBI chr 9:66,350,412...66,508,775
Ensembl chr 9:66,350,450...66,508,775
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 domain containing ISO CTD Direct Evidence: marker/mechanism
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:23623388, PMID:25741868, PMID:26056227, PMID:28814648, PMID:31206972 NCBI chr  X:95,639,187...95,658,509
Ensembl chr  X:95,639,193...95,658,509
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 ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency
ClinVar Annotator: match by OMIM:614741
OMIM
ClinVar
PMID:12649063, PMID:22628558 NCBI chr17:8,283,787...8,297,667
Ensembl chr17:8,282,904...8,297,661
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 chr 2:130,112,416...130,154,233
Ensembl chr 2:130,112,416...130,154,232
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 ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency
ClinVar Annotator: match by OMIM:300855
OMIM
ClinVar
PMID:18414213, PMID:21700266, PMID:23020937, PMID:24431331, PMID:25099252, PMID:25326635, PMID:25489052, PMID:25741868, PMID:25987439, PMID:26522270, PMID:27094817, PMID:28327206, PMID:28492532, PMID:28708303, PMID:28967461, PMID:29558889 NCBI chr  X:73,916,870...73,921,944
Ensembl chr  X:73,916,873...73,921,944
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 polypeptide ISO ClinVar Annotator: match by term: Okur-chung neurodevelopmental syndrome
ClinVar Annotator: match by term: CSNK2A1- Related Disorders
ClinVar
OMIM
PMID:17954558, PMID:21761202, PMID:24395637, PMID:25741868, PMID:27048600, PMID:28135719, PMID:28492532, PMID:28725024, PMID:29240241, PMID:29383814, PMID:29619237 NCBI chr 2:152,226,535...152,281,856
Ensembl chr 2:152,226,839...152,281,852
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-Coenzyme A synthase 2 ISO ClinVar Annotator: match by term: PHGDH DEFICIENCY ClinVar NCBI chr 3:98,280,431...98,310,738
Ensembl chr 3:98,280,435...98,310,738
JBrowse link
G Phgdh 3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
ClinVar Annotator: match by OMIM:601815
OMIM
ClinVar
PMID:11034457, PMID:11055895, PMID:11751922, PMID:14645240, PMID:19235232, PMID:22393170, PMID:22886422, PMID:24836451, PMID:25741868, PMID:26467025, PMID:26960553, PMID:28135894, PMID:28492532 NCBI chr 3:98,313,171...98,339,969
Ensembl chr 3:98,313,170...98,339,990
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 kinase adaptor alpha ISO ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
ClinVar Annotator: match by OMIM:611087
OMIM
ClinVar
PMID:17522105, PMID:20424326, PMID:25741868, PMID:27170158, PMID:28492532 NCBI chr11:106,162,974...106,193,634
Ensembl chr11:106,163,330...106,202,168
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 ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency
ClinVar Annotator: match by OMIM:610992
OMIM
ClinVar
PMID:17436247, PMID:25741868, PMID:28492532, PMID:32077105 NCBI chr19:15,905,123...15,925,059
Ensembl chr19:15,904,678...15,947,337
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 ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
ClinVar Annotator: match by OMIM:614023
OMIM
ClinVar
PMID:9222972, PMID:14673469, PMID:24146633, PMID:25080166, PMID:28492532 NCBI chr 5:129,765,558...129,787,443
Ensembl chr 5:129,765,558...129,787,449
JBrowse link
Psychomotor Agitation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Restlessness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17658665 NCBI chr17:93,198,245...93,206,541
Ensembl chr17:93,199,017...93,206,537
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:24556215 NCBI chr11:104,229,409...104,332,090
Ensembl chr11:104,231,390...104,332,090
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 chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18285828 NCBI chr11:60,104,917...60,199,197
Ensembl chr11:60,105,013...60,199,197
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 ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM
ClinVar
PMID:22279524, PMID:28492532 NCBI chr 4:125,066,672...125,074,043
Ensembl chr 4:125,066,672...125,074,042
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 receptor, ionotropic, NMDA2A (epsilon 1) 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 chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
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
ClinVar Annotator: match by OMIM:300643
OMIM
ClinVar
PMID:16497722, PMID:18718938, PMID:23831613, PMID:23871722, PMID:23933820, PMID:24995671, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:133,908,416...133,932,448
Ensembl chr  X:133,908,426...133,932,446
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 ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency
ClinVar Annotator: match by term: Sepiapterin reductase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612716
OMIM
ClinVar
CTD
PMID:9700606, PMID:10384371, PMID:11443547, PMID:15241655, PMID:16049044, PMID:16650784, PMID:16752391, PMID:16917893, PMID:17159114, PMID:18414213, PMID:18502672, PMID:19491146, PMID:21431957, PMID:21677200, PMID:22522443, PMID:23430877, PMID:24212389, PMID:25526675, PMID:25741868, PMID:28492532 NCBI chr 6:85,133,680...85,137,764
Ensembl chr 6:85,130,176...85,137,766
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 chr15:22,548,898...23,477,491
Ensembl chr15:22,549,022...23,474,418
JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: CHILDHOOD APRAXIA OF SPEECH
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, PMID:17033973, PMID:17330859, PMID:20858596, PMID:22105961, PMID:22106036, PMID:22144704, PMID:22434823, PMID:22766611, PMID:23918746, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386, PMID:11586359, PMID:19352412, PMID:15877281, PMID:17033973, PMID:16984964 RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 NCBI chr 6:14,901,349...15,441,977
Ensembl chr 6:14,901,349...15,441,977
JBrowse link
G Immp2l IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr12:41,024,061...41,955,588
Ensembl chr12:41,024,090...41,955,588
JBrowse link
G Lrrn3 leucine rich repeat protein 3, neuronal ISO ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr12:41,451,668...41,486,057
Ensembl chr12:41,451,668...41,486,431
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 3:127,553,396...127,618,023
Ensembl chr 3:127,553,489...127,618,023
JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp fibroblast growth factor (acidic) intracellular binding protein ISO ClinVar Annotator: match by term: THAUVIN-ROBINET-FAIVRE SYNDROME
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar
OMIM
PMID:26660953, PMID:27183861 NCBI chr19:5,460,598...5,465,052
Ensembl chr19:5,460,615...5,465,051
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 ClinVar Annotator: match by term: Verheij syndrome
ClinVar Annotator: match by OMIM:615583
OMIM
ClinVar
PMID:10606266, PMID:10668799, PMID:17579712, PMID:18414213, PMID:19348700, PMID:19464398, PMID:19854944, PMID:24140112, PMID:24253303, PMID:25741868, PMID:27804958, PMID:28074499, PMID:28135719, PMID:28327570, PMID:28471317, PMID:28990276, PMID:29300383 NCBI chr15:76,070,182...76,082,537
Ensembl chr15:76,070,182...76,080,924
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:95,711,583...95,932,656
Ensembl chr  X:95,711,678...95,932,637
JBrowse link
G Zc4h2 zinc finger, C4H2 domain 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:95,639,187...95,658,509
Ensembl chr  X:95,639,193...95,658,509
JBrowse link
ZTTK Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Son Son DNA binding protein ISO ClinVar Annotator: match by term: ZTTK SYNDROME
ClinVar Annotator: match by term: ZTTK syndrome
ClinVar
OMIM
PMID:1944255, PMID:3054499, PMID:9185665, PMID:10509013, PMID:10950926, PMID:11306577, PMID:12606581, PMID:16033648, PMID:19961433, PMID:20053686, PMID:20581448, PMID:20976243, PMID:21504830, PMID:22193954, PMID:22948023, PMID:23001566, PMID:23033978, PMID:23416452, PMID:23424103, PMID:23595291, PMID:23603762, PMID:24013217, PMID:24896178, PMID:25533962, PMID:25590979, PMID:25741868, PMID:25782155, PMID:27256762, PMID:27545676, PMID:27545680 NCBI chr16:91,647,824...91,679,192
Ensembl chr16:91,647,506...91,679,221
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Pathological Conditions, Signs and Symptoms 8020
      Signs and Symptoms 4817
        Neurologic Manifestations 4163
          Neurobehavioral Manifestations 2426
            Psychomotor Disorders 83
              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 1
              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 + 6
              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.