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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:NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
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Accession:DOID:9001150 term browser browse the term
Definition:An autosomal recessive disorder characterized by severe global developmental delay.
Synonyms:exact_synonym: NEDMABA
 narrow_synonym: ABNORMALITY OF THE CEREBRUM
 primary_id: MIM:618622
 xref: EFO:0010631


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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr19:10,009,983...10,047,138
Ensembl chr19:10,010,031...10,047,124 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:36,751,802...36,776,050 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 PMID:34837432 NCBI chr  X:37,566,320...37,796,766
Ensembl chr  X:37,566,378...37,796,760 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:12,152,346...12,165,983 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr14:81,956,777...82,087,392
Ensembl chr14:81,956,777...82,087,246 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chr 6:72,401,582...72,404,392
Ensembl chr 6:72,394,239...72,427,392 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr 1:106,039,247...106,081,034
Ensembl chr 1:106,039,237...106,081,033 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 2:40,101,548...40,164,780
Ensembl chr 2:40,101,548...40,186,618 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr10:60,031,441...60,090,259
Ensembl chr10:60,032,514...60,090,196 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:26704558 PMID:28492532 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:101,065,263...101,165,269 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:22228622 PMID:22729224 PMID:22949682 PMID:25326635 PMID:25326637 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:121,293,621...121,294,844
Ensembl chr  X:121,292,881...121,407,787 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:70,710,954...70,845,279 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:31904124 PMID:35701389 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:133,861,227...134,030,026 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31495489 PMID:37880672 NCBI chr11:96,866,805...96,890,520
Ensembl chr11:96,866,805...96,890,520 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,983,387...31,006,838 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      arthrogryposis multiplex congenita 264
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 27
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Nervous System Malformations 2471
            complex cortical dysplasia with other brain malformations 1650
              Malformations of Cortical Development, Group I 1397
                microcephaly 1137
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 27
paths to the root