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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


show annotations for term's descendants           Sort by:
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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Porencephaly		 CTD
MouseDO
ClinVar		 PMID:607595 PMID:23225343 PMID:25741868 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
DNA:mutation:cds:c.2399G>A,p.G800E(human)		 CTD
RGD		 PMID:26708157 RGD:13450938 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		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 PMID:25741868 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: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 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 19100
    physical disorder 5180
      congenital nervous system abnormality 1530
        microcephaly 1142
          porencephaly 2
            Porencephaly Cerebellar Hypoplasia Malformations 0
            brain small vessel disease 2 2
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            autosomal genetic disease 10342
              autosomal dominant disease 6692
                complex cortical dysplasia with other brain malformations 1633
                  Malformations of Cortical Development, Group I 1393
                    microcephaly 1142
                      porencephaly 2
                        Porencephaly Cerebellar Hypoplasia Malformations 0
                        brain small vessel disease 2 2
paths to the root