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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)
Synonyms:xref: MIM:PS251200


show annotations for term's descendants           Sort by:
primary microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIT citron rho-interacting serine/threonine kinase susceptibility ISO DNA:splice-site mutation:intron (c.753+3A>T) (human)
DNA:splice-site mutation:intron (c.753+3A>T|c.1111+1G>A) (human)		 RGD PMID:27503289 PMID:27519304 RGD:11553038 RGD:11553519 NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511 		JBrowse link
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 chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr17:7,746,731...7,867,426
Ensembl chr17:7,739,573...7,853,752 		JBrowse link
G FOXG1 forkhead box G1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868
G IGF2BP3 insulin like growth factor 2 mRNA binding protein 3 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 More... NCBI chr11:2,469,750...2,874,467 JBrowse link
G MTM1 myotubularin 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr  X:140,218,742...140,323,495
Ensembl chr  X:150,174,758...150,255,381 		JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr15:44,810,880...44,833,438
Ensembl chr15:63,088,084...63,108,077 		JBrowse link
G RTTN rotatin ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 PMID:26608784 NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
G TSR1 TSR1 ribosome maturation factor ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr17:2,314,567...2,328,518
Ensembl chr17:2,199,023...2,213,193 		JBrowse link
autosomal dominant primary microcephaly 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNB1 lamin B1 ISO ClinVar Annotator: match by term: LMNB1-related primary microcephaly | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:32910914 PMID:33033404 NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721 		JBrowse link
autosomal dominant primary microcephaly 27 term browser
Symbol Object Name Qualifiers 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 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:33033404 NCBI chr19:1,440,462...1,469,601
Ensembl chr19:2,406,296...2,430,568 		JBrowse link
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Qualifiers 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 chr 4:39,215,474...39,511,870
Ensembl chr 4:45,170,700...45,361,599 		JBrowse link
primary autosomal recessive microcephaly term browser
Symbol Object Name Qualifiers 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:25741868 PMID:28492532 PMID:34670123 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 More... NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 PMID:27453579 PMID:27503289 NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:18414213 PMID:24033266 NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432 		JBrowse link
G KNL1 kinetochore scaffold 1 ISO DNA:mutation:cds: c.6125 G>A,p. M2041I(human) RGD PMID:22983954 RGD:9685043 NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858 		JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:16199547 PMID:18414213 PMID:20978018 PMID:22855649 PMID:25741868 More... NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394 		JBrowse link
G WDR62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 More... NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038 		JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 NCBI chr20:42,287,518...42,312,169
Ensembl chr20:43,374,591...43,397,724 		JBrowse link
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name Qualifiers 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:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32714618 More... NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		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:19332161 PMID:19770472 PMID:20301772 More... NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868 NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432 		JBrowse link
G MCPH1 microcephalin 1 ISO ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive OMIM
ClinVar		 PMID:7693575 PMID:9536098 PMID:11857108 PMID:12046007 PMID:15199523 More... NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394 		JBrowse link
G RNF17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945 		JBrowse link
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 | ClinVar Annotator: match by term: ZNF335-related condition OMIM
ClinVar		 PMID:18414213 PMID:19131338 PMID:23178126 PMID:25741868 PMID:27540107 More... NCBI chr20:42,287,518...42,312,169
Ensembl chr20:43,374,591...43,397,724 		JBrowse link
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: PHC1-related condition OMIM
ClinVar		 PMID:23418308 PMID:25558065 PMID:25741868 NCBI chr12:8,999,018...9,025,900
Ensembl chr12:9,231,394...9,257,806 		JBrowse link
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: CDK6-related condition | ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive OMIM
ClinVar		 PMID:23918663 PMID:25741868 PMID:28492532 NCBI chr 7:84,603,419...84,835,082 JBrowse link
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPE centromere protein E ISO ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive OMIM
ClinVar		 PMID:24748105 PMID:25741868 PMID:28492532 NCBI chr 4:95,562,005...95,654,397
Ensembl chr 4:106,185,283...106,277,229 		JBrowse link
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: SASS6-related condition OMIM
ClinVar		 PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237 NCBI chr 1:102,741,808...102,790,850
Ensembl chr 1:101,459,348...101,506,072 		JBrowse link
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: MFSD2A-related condition | ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:26005865 PMID:26005868 PMID:28492532 PMID:30043326 More... NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438 		JBrowse link
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name Qualifiers 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: ANKLE2-related condition | ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:28492532 More... NCBI chr12:130,091,476...130,123,533
Ensembl chr12:134,805,830...134,835,140 		JBrowse link
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIT citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: CIT-related condition | ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 More... NCBI chr12:117,264,627...117,456,069
Ensembl chr12:120,641,747...120,832,511 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive ClinVar PMID:2021172 PMID:2215617 PMID:11139241 PMID:18175313 PMID:18385078 More... NCBI chr 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928 		JBrowse link
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name Qualifiers 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 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117 		JBrowse link
primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: WDR62-related condition OMIM
ClinVar		 PMID:3440221 PMID:9536098 PMID:10573015 PMID:16199547 PMID:17576681 More... NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038 		JBrowse link
primary autosomal recessive microcephaly 20 term browser
Symbol Object Name Qualifiers 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:23308235 PMID:25741868 PMID:28492532 PMID:28892560 PMID:29343805 More... NCBI chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323 		JBrowse link
primary autosomal recessive microcephaly 21 term browser
Symbol Object Name Qualifiers 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 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729 		JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206 		JBrowse link
primary autosomal recessive microcephaly 22 term browser
Symbol Object Name Qualifiers 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 Annotator: match by term: NCAPD3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27737959 PMID:28492532 NCBI chr11:129,005,365...129,078,581
Ensembl chr11:132,865,349...132,935,590 		JBrowse link
primary autosomal recessive microcephaly 23 term browser
Symbol Object Name Qualifiers 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 Annotator: match by term: NCAPH-related condition OMIM
ClinVar		 PMID:25741868 PMID:27737959 NCBI chr2A:102,939,357...102,980,091
Ensembl chr2A:97,258,412...97,299,906 		JBrowse link
primary autosomal recessive microcephaly 24 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: NUP37-related condition OMIM
ClinVar		 PMID:25741868 PMID:30179222 NCBI chr12:99,661,779...99,707,618
Ensembl chr12:103,059,232...103,105,066 		JBrowse link
primary autosomal recessive microcephaly 25 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: TRAPPC14-related condition OMIM
ClinVar		 PMID:25741868 PMID:30715179 NCBI chr 7:92,189,179...92,193,483
Ensembl chr 7:105,622,497...105,625,978 		JBrowse link
primary autosomal recessive microcephaly 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100986453 ribosomal RNA-processing protein 7 homolog A ISO ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive OMIM
ClinVar		 PMID:33199730 NCBI chr22:23,403,954...23,415,442 JBrowse link
primary autosomal recessive microcephaly 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD6IP programmed cell death 6 interacting protein ISO OMIM NCBI chr 3:33,719,603...33,793,301
Ensembl chr 3:34,016,474...34,093,631 		JBrowse link
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive OMIM
ClinVar		 PMID:10677332 PMID:15793586 PMID:16199547 PMID:17764569 PMID:18414213 More... NCBI chr 9:91,519,179...91,707,469
Ensembl chr 9:119,868,015...120,055,608 		JBrowse link
primary autosomal recessive microcephaly 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35044816 NCBI chr2A:91,393,317...91,433,579
Ensembl chr2A:111,793,236...111,858,392 		JBrowse link
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: KNL1-related condition | ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive OMIM
ClinVar		 PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 More... NCBI chr15:19,539,264...19,609,593
Ensembl chr15:37,801,705...37,860,858 		JBrowse link
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPM assembly factor for spindle microtubules treatment
susceptibility		 ISO ClinVar Annotator: match by term: ASPM-related condition | ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive OMIM
ClinVar
RGD		 PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 More... RGD:13439744 RGD:1599300 NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810 		JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590 		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 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637 		JBrowse link
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPAP centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive OMIM
ClinVar		 PMID:12843329 PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 More... NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432 		JBrowse link
G RNF17 ring finger protein 17 ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive ClinVar PMID:15793586 PMID:16199547 PMID:16900296 PMID:18414213 PMID:20301772 More... NCBI chr13:6,056,496...6,172,231
Ensembl chr13:24,346,898...24,460,945 		JBrowse link
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: STIL-related condition OMIM
ClinVar		 PMID:18414213 PMID:19215732 PMID:20301772 PMID:22989186 PMID:23772360 More... NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071 		JBrowse link
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP135 centrosomal protein 135 ISO ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:22521416 PMID:25741868 PMID:26657937 More... NCBI chr 4:67,895,930...67,980,231
Ensembl chr 4:74,463,689...74,547,735 		JBrowse link
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name Qualifiers 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:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 More... NCBI chr15:27,665,278...27,760,808
Ensembl chr15:46,011,447...46,084,233 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    physical disorder 5173
      congenital nervous system abnormality 1539
        microcephaly 1145
          primary microcephaly 46
            autosomal dominant primary microcephaly + 3
            primary autosomal recessive microcephaly + 33
Path 2
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  disease 15834
    Developmental Disease 13863
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10859
            autosomal genetic disease 10399
              autosomal dominant disease 6745
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1391
                    microcephaly 1145
                      primary microcephaly 46
                        autosomal dominant primary microcephaly + 3
                        primary autosomal recessive microcephaly + 33
paths to the root