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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:primary microcephaly
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Accession:DOID:0070297 term browser browse the term
Definition:A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. (DO)
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
primary microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 More... NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
JBrowse link
G Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:26608784 NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
JBrowse link
G Tsr1 TSR1, ribosome maturation factor ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr10:59,760,420...59,771,868
Ensembl chr10:59,760,409...59,771,864
JBrowse link
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:27008544 PMID:31327001 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
JBrowse link
primary autosomal recessive microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:20978018 PMID:25741868 PMID:28492532 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Aspm assembly factor for spindle microtubules ISO DNA:mutations: :
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human)
ClinVar
RGD
PMID:15355437 PMID:18414213 PMID:19028728 PMID:20679666 PMID:22823409 More... RGD:13442485, RGD:13442486 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Cenpj centromere protein J ISO DNA:deletion mutation:cds:c.3243-46delTCAG (human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
ClinVar
RGD
PMID:18414213 PMID:24033266 PMID:16900296 RGD:11541115 NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:27453579 PMID:27503289 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
JBrowse link
G Knl1 kinetochore scaffold 1 ISO DNA:mutation:cds: c.6125 G>A,p. M2041I(human) RGD PMID:22983954 RGD:9685043 NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
JBrowse link
G Mcph1 microcephalin 1 ISO DNA:deletion: :p.R393Sfs*50 (human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:mutations:exon, intron:multiple
ClinVar
RGD
PMID:20978018 PMID:25741868 PMID:28492532 PMID:22775483 PMID:20978018 RGD:13204748, RGD:13204750 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
G Wdr62 WD repeat domain 62 ISO DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)
ClinVar
RGD
PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 More... RGD:11541051, RGD:11541056 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:16199547 PMID:18414213 PMID:20978018 PMID:25741868 PMID:26467025 More... NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:18414213 PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 More... NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:12843329 PMID:15793586 PMID:22775483 PMID:25741868 NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
DNA:insertion:exon:c.427insA (human)
OMIM
ClinVar
RGD
PMID:7693575 PMID:11857108 PMID:12046007 PMID:15199523 PMID:16199547 More... RGD:9589022 NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
JBrowse link
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 OMIM
ClinVar
PMID:23178126 PMID:25741868 PMID:27540107 PMID:28327206 PMID:28492532 More... NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
JBrowse link
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive OMIM
ClinVar
PMID:23418308 PMID:25558065 PMID:25741868 NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959
JBrowse link
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk6 cyclin-dependent kinase 6 ISO ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive ClinVar
OMIM
PMID:23918663 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpe centromere protein E ISO ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive OMIM
ClinVar
PMID:24748105 PMID:25741868 NCBI chr 2:223,637,035...223,695,692
Ensembl chr 2:223,636,998...223,695,669
JBrowse link
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sass6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive OMIM
ClinVar
PMID:24951542 PMID:25741868 PMID:30639237 NCBI chr 2:204,546,660...204,578,930
Ensembl chr 2:204,546,660...204,578,927
JBrowse link
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:26005868 PMID:30043326 NCBI chr 5:135,225,801...135,240,744
Ensembl chr 5:135,225,816...135,240,690
JBrowse link
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive OMIM
ClinVar
PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:30214071 NCBI chr12:46,417,761...46,451,304
Ensembl chr12:46,417,759...46,500,514
JBrowse link
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 More... NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860
JBrowse link
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
JBrowse link
primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2
DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human)
DNA:mutation:cds:c.390G > A(human)
DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:10573015 PMID:17576681 PMID:18414213 PMID:20729831 More... RGD:11537475, RGD:11537473, RGD:11537472 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
JBrowse link
Primary Autosomal Recessive Microcephaly 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28892560 PMID:29343805 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
JBrowse link
Primary Autosomal Recessive Microcephaly 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive ClinVar PMID:25741868 PMID:27737959 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:27737959 NCBI chr 4:157,968,814...157,992,314
Ensembl chr 4:157,968,815...157,992,020
JBrowse link
Primary Autosomal Recessive Microcephaly 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:27737959 NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
JBrowse link
Primary Autosomal Recessive Microcephaly 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph non-SMC condensin I complex, subunit H ISO ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:27737959 NCBI chr 3:114,371,937...114,399,223
Ensembl chr 3:114,371,941...114,399,180
JBrowse link
Primary Autosomal Recessive Microcephaly 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup37 nucleoporin 37 ISO ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:30179222 NCBI chr 7:22,556,544...22,609,622
Ensembl chr 7:22,573,764...22,609,616
JBrowse link
Primary Autosomal Recessive Microcephaly 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc14 trafficking protein particle complex subunit 14 ISO ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:30715179 NCBI chr12:17,262,748...17,267,093
Ensembl chr12:17,262,750...17,267,084
JBrowse link
Primary Autosomal Recessive Microcephaly 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:32910914 PMID:33033404 NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
JBrowse link
Primary Autosomal Recessive Microcephaly 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant OMIM
ClinVar
PMID:33033404 NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
JBrowse link
Primary Autosomal Recessive Microcephaly 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive OMIM
ClinVar
PMID:33199730 NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
JBrowse link
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive
DNA:nonsense mutation:exon:243T>A(p.S81X)(human)
DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human)
OMIM
ClinVar
RGD
PMID:10677332 PMID:15793586 PMID:17764569 PMID:18414213 PMID:22887808 More... RGD:13450905, RGD:11057920 NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
JBrowse link
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive OMIM
ClinVar
PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 More... NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
JBrowse link
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 More... NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive OMIM
ClinVar
PMID:12843329 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20522431 More... NCBI chr15:30,626,946...30,690,384
Ensembl chr15:30,627,224...30,686,791
JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive ClinVar PMID:15793586 PMID:18414213 PMID:24402816 PMID:25741868 PMID:26467025 More... NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
JBrowse link
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:19215732 PMID:22989186 PMID:23772360 PMID:24986681 More... NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
JBrowse link
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive OMIM
ClinVar
PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 PMID:31696992 NCBI chr14:31,530,538...31,595,718
Ensembl chr14:31,531,482...31,595,772
JBrowse link
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 PMID:25741868 More... NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital nervous system abnormality 1366
        microcephaly 1106
          primary microcephaly 38
            primary autosomal dominant microcephaly 18 1
            primary autosomal recessive microcephaly + 31
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal dominant disease 5125
                complex cortical dysplasia with other brain malformations 1426
                  Malformations of Cortical Development, Group I 1271
                    microcephaly 1106
                      primary microcephaly 38
                        primary autosomal dominant microcephaly 18 1
                        primary autosomal recessive microcephaly + 31
paths to the root