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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 Qualifiers 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, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Porencephaly		 CTD
ClinVar
MouseDO		 PMID:607595 PMID:2211826 PMID:3691802 PMID:7695699 PMID:8218237 More... NCBI chr16:84,885,597...84,996,482
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: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT
DNA:mutation:cds:c.2399G>A,p.G800E(human)		 CTD
ClinVar
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:26708157 RGD:13450938 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT ClinVar PMID:25741868 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Qualifiers 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 chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain susceptibility 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 chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      congenital nervous system abnormality 1542
        microcephaly 1150
          porencephaly 3
            Porencephaly Cerebellar Hypoplasia Malformations 0
            brain small vessel disease 2 2
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                complex cortical dysplasia with other brain malformations 1647
                  Malformations of Cortical Development, Group I 1402
                    microcephaly 1150
                      porencephaly 3
                        Porencephaly Cerebellar Hypoplasia Malformations 0
                        brain small vessel disease 2 2
paths to the root