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ONTOLOGY REPORT - ANNOTATIONS


Term:primary autosomal recessive microcephaly
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Accession:DOID:0070296 term browser browse the term
Definition:A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has material basis in an autosomal recessive mutation. (DO)
Synonyms:exact_synonym: MCPH;   Microcephalia vera;   Microcephaly Primary Hereditary;   Microcephaly vera;   True Microcephaly
 primary_id: MESH:C579935
 alt_id: DOID:9007274;   RDO:0015866
 xref: GARD:12117;   OMIM:PS251200;   ORDO:2512
For additional species annotation, visit the Alliance of Genome Resources.


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primary autosomal recessive microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:13442485
RGD:8554872
RGD:13442486
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:11541115
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:8554872
G Knl1 kinetochore scaffold 1 JBrowse link 3 110,847,304 110,909,807 RGD:9685043
G Mcph1 microcephalin 1 JBrowse link 16 75,904,087 76,110,624 RGD:13204748
RGD:13204750
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:11541051
RGD:11541056
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:8554872
G Mcph1 microcephalin 1 JBrowse link 16 75,904,087 76,110,624 RGD:8554872
RGD:9589022
RGD:7240710
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp335 zinc finger protein 335 JBrowse link 3 161,357,201 161,378,073 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phc1 polyhomeotic homolog 1 JBrowse link 4 155,093,947 155,118,838 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk6 cyclin-dependent kinase 6 JBrowse link 4 27,781,728 27,969,653 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpe centromere protein E JBrowse link 2 240,395,974 240,454,785 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sass6 SAS-6 centriolar assembly protein JBrowse link 2 219,626,851 219,660,975 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfsd2a major facilitator superfamily domain containing 2A JBrowse link 5 140,642,865 140,657,759 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankle2 ankyrin repeat and LEM domain containing 2 JBrowse link 12 52,475,862 52,507,126 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:8554872
RGD:7240710
RGD:11554173
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
RGD:7240710
RGD:13592920
primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:8554872
RGD:11537475
RGD:11537473
RGD:11537472
RGD:7240710
Primary Autosomal Recessive Microcephaly 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif14 kinesin family member 14 JBrowse link 13 53,350,073 53,421,992 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncapd2 non-SMC condensin I complex, subunit D2 JBrowse link 4 157,682,855 157,705,903 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncapd3 non-SMC condensin II complex, subunit D3 JBrowse link 8 28,075,629 28,145,024 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph non-SMC condensin I complex, subunit H JBrowse link 3 119,583,798 119,611,148 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup37 nucleoporin 37 JBrowse link 7 28,715,299 28,750,978 RGD:8554872
RGD:7240710
Primary Autosomal Recessive Microcephaly 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1305455 similar to hypothetical protein FLJ10925 JBrowse link 12 19,577,895 19,582,185 RGD:7240710
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:8554872
RGD:13450905
RGD:11057920
RGD:7240710
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100911204 protein CASC5-like JBrowse link 3 112,531,429 112,560,698 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:8554872
RGD:7240710
G Eif3g eukaryotic translation initiation factor 3, subunit G JBrowse link 8 21,911,632 21,915,664 RGD:8554872
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:8554872
RGD:7240710
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stil STIL, centriolar assembly protein JBrowse link 5 133,819,302 133,851,362 RGD:8554872
RGD:7240710
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep135 centrosomal protein 135 JBrowse link 14 34,052,168 34,115,763 RGD:7240710
RGD:8554872
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          primary autosomal recessive microcephaly 28
            Primary Autosomal Recessive Microcephaly 20 1
            Primary Autosomal Recessive Microcephaly 21 1
            Primary Autosomal Recessive Microcephaly 22 1
            Primary Autosomal Recessive Microcephaly 23 1
            Primary Autosomal Recessive Microcephaly 24 1
            Primary Autosomal Recessive Microcephaly 25 1
            primary autosomal recessive microcephaly 1 2
            primary autosomal recessive microcephaly 10 1
            primary autosomal recessive microcephaly 11 1
            primary autosomal recessive microcephaly 12 1
            primary autosomal recessive microcephaly 13 1
            primary autosomal recessive microcephaly 14 1
            primary autosomal recessive microcephaly 15 1
            primary autosomal recessive microcephaly 16 1
            primary autosomal recessive microcephaly 17 1
            primary autosomal recessive microcephaly 19 1
            primary autosomal recessive microcephaly 2 with or without cortical malformations 1
            primary autosomal recessive microcephaly 3 1
            primary autosomal recessive microcephaly 4 1
            primary autosomal recessive microcephaly 5 + 2
            primary autosomal recessive microcephaly 6 2
            primary autosomal recessive microcephaly 7 1
            primary autosomal recessive microcephaly 8 1
            primary autosomal recessive microcephaly 9 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Nervous System Malformations 657
            complex cortical dysplasia with other brain malformations 416
              Malformations of Cortical Development, Group I 272
                microcephaly 208
                  primary microcephaly 29
                    primary autosomal recessive microcephaly 28
                      Primary Autosomal Recessive Microcephaly 20 1
                      Primary Autosomal Recessive Microcephaly 21 1
                      Primary Autosomal Recessive Microcephaly 22 1
                      Primary Autosomal Recessive Microcephaly 23 1
                      Primary Autosomal Recessive Microcephaly 24 1
                      Primary Autosomal Recessive Microcephaly 25 1
                      primary autosomal recessive microcephaly 1 2
                      primary autosomal recessive microcephaly 10 1
                      primary autosomal recessive microcephaly 11 1
                      primary autosomal recessive microcephaly 12 1
                      primary autosomal recessive microcephaly 13 1
                      primary autosomal recessive microcephaly 14 1
                      primary autosomal recessive microcephaly 15 1
                      primary autosomal recessive microcephaly 16 1
                      primary autosomal recessive microcephaly 17 1
                      primary autosomal recessive microcephaly 19 1
                      primary autosomal recessive microcephaly 2 with or without cortical malformations 1
                      primary autosomal recessive microcephaly 3 1
                      primary autosomal recessive microcephaly 4 1
                      primary autosomal recessive microcephaly 5 + 2
                      primary autosomal recessive microcephaly 6 2
                      primary autosomal recessive microcephaly 7 1
                      primary autosomal recessive microcephaly 8 1
                      primary autosomal recessive microcephaly 9 1
paths to the root