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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:Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
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Accession:DOID:9002795 term browser browse the term
Definition:A severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. (OMIM)
Synonyms:exact_synonym: MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY;   MSCCA
 primary_id: OMIM:615760


show annotations for term's descendants           Sort by:
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 Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,709,203...110,729,598
Ensembl chr 9:110,708,938...110,729,598 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,480,141...108,531,917
Ensembl chr 9:108,480,141...108,526,585 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G Camp cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,676,445...109,678,524
Ensembl chr 9:109,676,447...109,678,685 		JBrowse link
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,483,376...110,540,661
Ensembl chr 9:110,485,571...110,540,674 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,911,564...108,922,431
Ensembl chr 9:108,911,561...108,921,557 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395 		JBrowse link
G Ccrl2 C-C motif chemokine receptor-like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,883,902...110,886,586
Ensembl chr 9:110,883,554...110,886,587 		JBrowse link
G Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,704,545...109,722,963
Ensembl chr 9:109,704,647...109,722,963 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,703,244...108,730,168
Ensembl chr 9:108,703,519...108,730,168 		JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
G Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,768,676...110,775,226
Ensembl chr 9:110,768,671...110,775,226 		JBrowse link
G Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,072,851...110,091,644
Ensembl chr 9:110,072,851...110,091,644 		JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,635,542...123,640,819
Ensembl chr 9:123,635,540...123,640,825 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,444,710...108,449,972
Ensembl chr 9:108,447,085...108,449,973 		JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,913,387...109,946,728
Ensembl chr 9:109,913,388...109,946,898 		JBrowse link
G Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,133,321...110,151,170
Ensembl chr 9:110,134,241...110,151,170 		JBrowse link
G Fbxw13 F-box and WD-40 domain protein 13 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,008,295...109,025,043
Ensembl chr 9:109,008,295...109,025,043 		JBrowse link
G Fyco1 FYVE and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,618,565...123,681,110
Ensembl chr 9:123,618,565...123,680,964 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,437,635...108,442,776
Ensembl chr 9:108,437,485...108,442,783 		JBrowse link
G Ip6k2 inositol hexaphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,660,928...108,683,532
Ensembl chr 9:108,660,995...108,683,536 		JBrowse link
G Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,306,062...110,354,242
Ensembl chr 9:110,306,026...110,354,247 		JBrowse link
G Klhl18 kelch-like 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,254,994...110,305,768
Ensembl chr 9:110,254,994...110,305,762 		JBrowse link
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		JBrowse link
G Limd1 LIM domains containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,306,790...123,350,617
Ensembl chr 9:123,307,771...123,350,617 		JBrowse link
G Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,780,613...110,813,134
Ensembl chr 9:110,780,613...110,813,134 		JBrowse link
G Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,523,469...123,546,690
Ensembl chr 9:123,523,481...123,546,762 		JBrowse link
G Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,758,909...109,913,018
Ensembl chr 9:109,760,528...109,913,023 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,445,518...108,445,591
Ensembl chr 9:108,445,518...108,445,591 		JBrowse link
G Myl3 myosin, light polypeptide 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,453,857...110,483,229
Ensembl chr 9:110,453,857...110,483,229 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,685,515...108,696,044
Ensembl chr 9:108,685,567...108,696,043 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,442,786...108,444,635
Ensembl chr 9:108,442,736...108,444,633 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,661,830...109,672,042
Ensembl chr 9:109,661,817...109,672,184 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,456,025...108,475,482
Ensembl chr 9:108,456,061...108,474,866 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,817,336...108,861,302
Ensembl chr 9:108,820,846...108,861,296 		JBrowse link
G Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,922,915...108,948,983
Ensembl chr 9:108,924,457...108,948,985 		JBrowse link
G Prkar2a protein kinase, cAMP dependent regulatory, type II alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,569,342...108,627,643
Ensembl chr 9:108,566,513...108,627,635 		JBrowse link
G Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,687,032...110,693,697
Ensembl chr 9:110,687,035...110,693,697 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,214,152...110,237,278
Ensembl chr 9:110,214,150...110,237,281 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More... NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,394,010...108,437,366
Ensembl chr 9:108,394,005...108,437,362 		JBrowse link
G Rtp3 receptor transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,814,003...110,818,781
Ensembl chr 9:110,814,003...110,819,651 		JBrowse link
G Sacm1l SAC1 suppressor of actin mutations 1-like (yeast) ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,358,818...123,421,665
Ensembl chr 9:123,358,824...123,421,665 		JBrowse link
G Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,162,356...110,214,017
Ensembl chr 9:110,162,356...110,214,018 		JBrowse link
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,361,665...110,447,701 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,867,635...108,886,860
Ensembl chr 9:108,867,633...108,886,845 		JBrowse link
G Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,539,335...108,561,841
Ensembl chr 9:108,539,287...108,561,840 		JBrowse link
G Slc26a6 solute carrier family 26, member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,731,239...108,742,117
Ensembl chr 9:108,730,482...108,742,117 		JBrowse link
G Slc6a20b solute carrier family 6 (neurotransmitter transporter), member 20B ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,422,888...123,461,603
Ensembl chr 9:123,419,865...123,461,630 		JBrowse link
G Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,961,129...110,069,773
Ensembl chr 9:109,946,776...110,069,246 		JBrowse link
G Spink8 serine peptidase inhibitor, Kazal type 8 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:109,641,271...109,655,696
Ensembl chr 9:109,641,348...109,655,701 		JBrowse link
G Tma7 translational machinery associated 7 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,907,056...108,911,449
Ensembl chr 9:108,903,636...108,911,655 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,743,687...108,744,631
Ensembl chr 9:108,743,687...108,744,631 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,765,716...108,778,709
Ensembl chr 9:108,765,701...108,778,691 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:108,449,510...108,455,862
Ensembl chr 9:108,449,510...108,455,938 		JBrowse link
G Xcr1 chemokine (C motif) receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 9:123,681,380...123,691,094
Ensembl chr 9:123,681,380...123,691,094 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    physical disorder 5001
      congenital nervous system abnormality 1500
        microcephaly 1131
          Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 66
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal dominant disease 6266
                complex cortical dysplasia with other brain malformations 1600
                  Malformations of Cortical Development, Group I 1382
                    microcephaly 1131
                      Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy 66
paths to the root