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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 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 vera;   primary hereditary microcephaly;   true microcephaly
 primary_id: MESH:C579935
 xref: GARD:12117;   OMIM:PS251200;   ORDO:2512
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
primary autosomal recessive microcephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm assembly factor for spindle microtubules ISO DNA:mutations: :
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly
DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human) 		ClinVar PMID:15355437 PMID:18414213 PMID:19028728 PMID:20679666 PMID:22823409 PMID:23611254 PMID:24033266 PMID:25525159 PMID:26467025, PMID:19770472, PMID:18452193 RGD:13442485, RGD:13442486 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793 		JBrowse link
G Cenpj centromere protein J ISO DNA:deletion mutation:cds:c.3243-46delTCAG (human)
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly		 ClinVar PMID:18414213 PMID:24033266, PMID:16900296 RGD:11541115 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly ClinVar PMID:27453579 PMID:27503289 NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174 		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 3:110,847,304...110,909,807
Ensembl chr 3:110,855,000...110,909,807 		JBrowse link
G LOC100911204 protein CASC5-like ISO DNA:mutation:cds: c.6125 G>A,p. M2041I(human) RGD PMID:22983954 RGD:9685043 NCBI chr 3:112,531,429...112,560,698
Ensembl chr 3:112,531,703...112,560,634 		JBrowse link
G Mcph1 microcephalin 1 ISO DNA:deletion: :p.R393Sfs*50 (human)
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly
DNA:mutations:exon, intron:multiple		 ClinVar PMID:25741868, PMID:22775483, PMID:20978018 RGD:13204748, RGD:13204750 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553 		JBrowse link
G Wdr62 WD repeat domain 62 ISO DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly
DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)		 ClinVar PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:28756000, PMID:25303973, PMID:22308068 RGD:11541051, RGD:11541056 NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223 		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: Primary autosomal recessive microcephaly 1 ClinVar PMID:18414213 PMID:25741868 PMID:26467025 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1 ClinVar PMID:18414213 PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 PMID:29644084 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793 		JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1 ClinVar PMID:12843329 PMID:15793586 PMID:22775483 PMID:25741868 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814 		JBrowse link
G Mcph1 microcephalin 1 ISO ClinVar Annotator: match by OMIM:251200
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1
DNA:insertion:exon:c.427insA (human)		 ClinVar
OMIM		 PMID:7693575 PMID:11857108 PMID:12046007 PMID:15199523 PMID:16311745 PMID:16783362 PMID:18414213 PMID:20101680 PMID:20949544 PMID:20978018 PMID:22139841 PMID:22154951 PMID:22908299 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532, PMID:15199523 RGD:9589022 NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553 		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
ClinVar Annotator: match by OMIM:615095		 OMIM
ClinVar		 PMID:23178126 PMID:25741868 PMID:27540107 PMID:28327206 PMID:29652087 NCBI chr 3:161,357,201...161,378,073
Ensembl chr 3:161,357,278...161,376,119 		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: Primary autosomal recessive microcephaly 11
ClinVar Annotator: match by OMIM:615414		 OMIM
ClinVar		 PMID:23418308 PMID:25558065 PMID:25741868 NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154 		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: Primary autosomal recessive microcephaly 12 ClinVar
OMIM		 PMID:23918663 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398 		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: Primary autosomal recessive microcephaly 13 ClinVar
OMIM		 PMID:24748105 PMID:25741868 NCBI chr 2:240,395,974...240,454,785
Ensembl chr 2:240,396,152...240,454,747 		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: Primary autosomal recessive microcephaly 14 ClinVar
OMIM		 PMID:24951542 PMID:30639237 NCBI chr 2:219,626,851...219,660,975
Ensembl chr 2:219,628,695...219,652,968 		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: Primary autosomal recessive microcephaly 15 ClinVar
OMIM		 PMID:26005868 PMID:30043326 NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745 		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 chr12:52,475,862...52,507,126
Ensembl chr12:52,475,863...52,507,126 		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
ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive		 ClinVar
OMIM		 PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 PMID:28492532 NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174 		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: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE ClinVar
OMIM		 PMID:29036432 NCBI chr 8:106,582,339...106,603,763 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 OMIM:604317
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2
ClinVar Annotator: match by term: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations
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)		 ClinVar
OMIM		 PMID:10573015 PMID:18414213 PMID:20729831 PMID:20890278 PMID:20890279 PMID:21834044 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:26077850 PMID:26467025 PMID:28377545 PMID:28492532 PMID:28756000, PMID:21961505, PMID:26577670, PMID:21496009 RGD:11537475, RGD:11537473, RGD:11537472 NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223 		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 ClinVar
OMIM		 PMID:25741868 PMID:28892560 PMID:29343805 NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111 		JBrowse link
Primary Autosomal Recessive Microcephaly 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE ClinVar
OMIM		 PMID:27737959 NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596 		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 ClinVar
OMIM		 PMID:27737959 NCBI chr 8:28,075,629...28,145,024
Ensembl chr 8:28,075,551...28,144,741 		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 ClinVar
OMIM		 PMID:27737959 NCBI chr 3:119,583,798...119,611,148
Ensembl chr 3:119,583,648...119,611,136 		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 7:28,715,299...28,750,978
Ensembl chr 7:28,701,690...28,743,326 		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 14 ISO ClinVar Annotator: match by term: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:30715179 NCBI chr12:19,577,895...19,582,185
Ensembl chr12:19,573,893...19,582,208 		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 OMIM:604804
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 3
DNA:nonsense mutation:exon:243T>A(p.S81X)(human)
DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human)		 ClinVar
OMIM		 PMID:10677332 PMID:15793586 PMID:17764569 PMID:18414213 PMID:22887808 PMID:23726037 PMID:23995685 PMID:25326637 PMID:25741868 PMID:27391121 PMID:27761245 PMID:28004182 PMID:28492532, PMID:17764569, PMID:23587236 RGD:13450905, RGD:11057920 NCBI chr 5:86,387,238...86,554,108
Ensembl chr 5:86,387,078...86,554,102 		JBrowse link
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100911204 protein CASC5-like ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 4 OMIM
ClinVar		 PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 PMID:27149178 PMID:28492532 NCBI chr 3:112,531,429...112,560,698
Ensembl chr 3:112,531,703...112,560,634 		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 OMIM:608716
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5		 ClinVar
OMIM		 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 PMID:16141009 PMID:16673149 PMID:18414213 PMID:18452193 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 PMID:20679666 PMID:22823409 PMID:22989186 PMID:23611254 PMID:24033266 PMID:25480035 PMID:25525159 PMID:25741868 PMID:25786579 PMID:26467025 PMID:26548919 PMID:27250695 PMID:28492532 PMID:28554332 PMID:29243349 PMID:29522511 PMID:29644084 PMID:29706646 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5 ClinVar PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965 		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 OMIM:608393
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 6		 ClinVar
OMIM		 PMID:12843329 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20978018 PMID:22775483 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814 		JBrowse link
G Rnf17 ring finger protein 17 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 6 ClinVar PMID:15793586 PMID:18414213 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:36,609,348...36,744,750
Ensembl chr15:36,609,296...36,744,762 		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 OMIM:612703
ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 7		 ClinVar
OMIM		 PMID:18414213 PMID:19215732 PMID:22989186 PMID:23772360 PMID:25218063 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:33132204 NCBI chr 5:133,819,302...133,851,362
Ensembl chr 5:133,819,726...133,851,416 		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: Primary autosomal recessive microcephaly 8
ClinVar Annotator: match by OMIM:614673		 OMIM
ClinVar		 PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 NCBI chr14:34,052,168...34,115,763
Ensembl chr14:34,051,003...34,115,273 		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: Primary autosomal recessive microcephaly 9
ClinVar Annotator: match by OMIM:614852
ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive		 OMIM
ClinVar		 PMID:18414213 PMID:20598275 PMID:21131973 PMID:25741868 PMID:25996639 PMID:28492532 NCBI chr 3:117,822,799...117,894,856 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital nervous system abnormality 512
        microcephaly 410
          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 4
              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 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Malformations of Cortical Development, Group I 564
                    microcephaly 410
                      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 4
                          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