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
Accession: DOID:9001150
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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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
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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
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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
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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
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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
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Dcx
doublecortin
ISO
ClinVar Annotator: match by term: Abnormality of the cerebrum
ClinVar
PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 More...
NCBI chr X:112,227,455...112,370,291
Ensembl chr X:112,227,455...112,304,161
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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
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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
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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
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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
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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 PMID:25741868 PMID:26344814 PMID:28492532 PMID:28661489 PMID:28851325 PMID:30533527 PMID:34837432 More...
NCBI chr 6:72,401,582...72,404,392
Ensembl chr 6:72,394,239...72,427,392
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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 PMID:25741868 PMID:28102150 PMID:28492532 PMID:29124671 PMID:29358611 PMID:30544257 More...
NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378
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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
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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
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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
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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
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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 PMID:25741868 PMID:27631024 PMID:28151489 PMID:28492532 PMID:28502725 PMID:28941273 PMID:29296277 PMID:30231930 PMID:32595695 PMID:32778138 PMID:33077954 PMID:39434542 PMID:39825153 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411
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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 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:32123317 PMID:33654647 PMID:34697416 PMID:37301908 More...
NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408
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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
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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
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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
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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
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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
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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
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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
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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 PMID:29261186 PMID:30667171 PMID:31219644 PMID:32570172 PMID:32901917 More...
NCBI chr19:68,365,687...68,374,741
Ensembl chr19:68,365,587...68,374,740
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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 PMID:33589534 PMID:33604570 More...
NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223
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