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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:cerebellar hypoplasia
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Accession:DOID:0070338 term browser browse the term
Definition:A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)
Synonyms:exact_synonym: congenital cerebellar hypoplasia
 primary_id: MESH:C562568
 xref: GARD:1194;   NCI:C98890
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cerebellar hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Ascc3 activating signal cointegrator 1 complex subunit 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr20:55,253,670...55,557,249
Ensembl chr20:55,253,686...55,556,473
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:31727539 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:32581362 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr14:2,020,110...2,032,169
Ensembl chr14:2,018,500...2,032,593
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr 2:193,565,401...193,574,297 JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr17:77,642,302...77,918,210 JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:10649495, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:15605411, PMID:15690354, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18429048, PMID:18586596, PMID:19459886, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:22812582, PMID:23426826, PMID:23588557, PMID:24126159, PMID:25435509, PMID:25741868, PMID:25946768, PMID:26847548, PMID:27094865, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065 NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
JBrowse link
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ndn necdin, MAGE family member ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:122,981,755...122,983,354
Ensembl chr 1:122,981,755...122,983,351
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:219,254,293...219,259,328
Ensembl chr 1:219,254,279...219,259,448
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:27322474, PMID:28492532, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868 NCBI chr  X:68,185,865...68,579,518
Ensembl chr  X:68,189,161...68,563,137
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31785787 NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:16783378, PMID:32581362 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9140401, PMID:9497260, PMID:9781039, PMID:10386614, PMID:10527672, PMID:10602363, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11134235, PMID:11156536, PMID:11343337, PMID:11517108, PMID:11589167, PMID:11891694, PMID:11916319, PMID:15714316, PMID:15844218, PMID:17166182, PMID:17920054, PMID:18948042, PMID:19357119, PMID:20301289, PMID:21541725, PMID:24033266, PMID:24498599, PMID:25355454, PMID:25497157, PMID:25741868, PMID:26014514, PMID:26488408, PMID:26805780, PMID:27415628, PMID:28373276, PMID:28425223, PMID:28492532, PMID:28940310, PMID:30311386, PMID:30740725, PMID:32581362, PMID:32860008 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
JBrowse link
G Rnaset2 ribonuclease T2 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 1:53,174,879...53,192,048
Ensembl chr 1:53,174,879...53,192,048
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25741868, PMID:30311386 NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:30311386 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:9295267, PMID:9788728, PMID:10330339, PMID:11339651, PMID:12376936, PMID:15520412, PMID:18684116, PMID:23418007, PMID:23539563, PMID:25741868, PMID:26224725, PMID:28335910, PMID:28492532, PMID:30311386 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cerebellar hypoplasia
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar PMID:31327508, PMID:31327510 NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
JBrowse link
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oxr1 oxidation resistance 1 ISO OMIM NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
JBrowse link
Lissencephaly 7 with Cerebellar Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar
PMID:25560765 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ClinVar
OMIM
PMID:28763441 NCBI chr 5:24,446,002...24,493,819
Ensembl chr 5:24,445,886...24,493,670
JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868, PMID:25855803, PMID:26752647 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar
PMID:24656866, PMID:25432320, PMID:25471517, PMID:25741868, PMID:26467025, PMID:26869582, PMID:28492532 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        Developmental Disabilities 679
          cerebellar hypoplasia 47
            Lissencephaly 7 with Cerebellar Hypoplasia 1
            NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 1
            POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
            Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
            cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              Neurodevelopmental Disorders 4582
                Developmental Disabilities 679
                  cerebellar hypoplasia 47
                    Lissencephaly 7 with Cerebellar Hypoplasia 1
                    NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 1
                    POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
                    Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 1
                    cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 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.