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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 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:26005865, PMID:26005868 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:26637979, 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:28386937, 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 Map11 microtubule associated protein 11 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:30311386, 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:15806441, PMID:16141009, PMID:16673149, PMID:18414213, PMID:18452193, PMID:19028728, PMID:19332161, PMID:19770472, PMID:20301772, PMID:20679666, PMID:20978018, PMID:22775483, PMID:22823409, PMID:22989186, PMID:23611254, PMID:24033266, PMID:25480035, PMID:25525159, PMID:25741868, 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
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 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 16108
    physical disorder 982
      congenital nervous system abnormality 533
        microcephaly 431
          primary microcephaly 28
            primary autosomal recessive microcephaly 27
              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 1
              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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                complex cortical dysplasia with other brain malformations 741
                  Malformations of Cortical Development, Group I 595
                    microcephaly 431
                      primary microcephaly 28
                        primary autosomal recessive microcephaly 27
                          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 1
                          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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.