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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:Hemimegalencephaly
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Accession:DOID:9008237 term browser browse the term
Definition:Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation.
Synonyms:exact_synonym: Unilateral Macrocephalies;   Unilateral Macrocephaly;   Unilateral Megalencephalies;   hemimegalencephalies;   unilateral megalencephaly
 primary_id: MESH:D065705
 xref: NCI:C177779
For additional species annotation, visit the Alliance of Genome Resources.


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Hemimegalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO protein:altered expression:neocortex (human) RGD PMID:22759905 RGD:11560525 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:26619011 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160
JBrowse link
G Rps6 ribosomal protein S6 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602
Ensembl chr 5:101,371,136...101,374,602
JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      musculoskeletal system disease 6417
        Musculoskeletal Abnormalities 2238
          Craniofacial Abnormalities 1960
            Macrocephaly 68
              Hemimegalencephaly 11
                Sebaceous Nevus Syndrome and Hemimegalencephaly 4
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              autosomal dominant disease 4461
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group I 1054
                    Macrocephaly 68
                      Hemimegalencephaly 11
                        Sebaceous Nevus Syndrome and Hemimegalencephaly 4
paths to the root