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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:porencephaly
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Accession:DOID:0060263 term browser browse the term
Definition:A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO)
Synonyms:exact_synonym: ADT1P;   Familial Porencephalic White Matter Disease;   Familial Porencephaly;   HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1;   Infantile Hemiplegia with Porencephaly;   POREN1;   T1P;   autosomal dominant porencephaly type 1;   congenital porencephaly;   developmental porencephaly;   encephaloclastic porencephaly;   porencephalies;   porencephaly 1;   porencephaly type 1;   post traumatic porencephaly
 primary_id: MESH:D065708
 xref: GARD:7430;   ICD10CM:Q04.6;   ORDO:2940
For additional species annotation, visit the Alliance of Genome Resources.



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porencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly | ClinVar Annotator: match by term: Hemiplegia, infantile, with porencephaly | ClinVar Annotator: match by term: Porencephaly
CTD
ClinVar
PMID:607595 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly
DNA:mutation:cds:c.2399G>A,p.G800E(human)
CTD
ClinVar
RGD
PMID:25741868 PMID:26467025 PMID:28492532 PMID:26708157 RGD:13450938 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2 ClinVar NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Porencephaly 2 OMIM
ClinVar
PMID:22209246 PMID:22209247 PMID:22333902 PMID:22914737 PMID:24390199 More... NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      congenital nervous system abnormality 1362
        microcephaly 1103
          porencephaly 3
            Porencephaly Cerebellar Hypoplasia Malformations 0
            brain small vessel disease 2 2
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      porencephaly 3
                        Porencephaly Cerebellar Hypoplasia Malformations 0
                        brain small vessel disease 2 2
paths to the root