ONTOLOGY REPORT - ANNOTATIONS


Term:porencephaly
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Accession:DOID:0060263 term browser browse the term
Definition:Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.
Synonyms:exact_synonym: ADT1P;   Congenital Porencephaly;   Developmental Porencephaly;   Encephaloclastic Porencephaly;   Familial Porencephalic White Matter Disease;   Familial Porencephaly;   HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1;   Infantile Hemiplegia with Porencephaly;   POREN1;   PORENCEPHALY 1;   Porencephalies;   Porencephaly Type 1;   T1P;   autosomal dominant porencephaly type 1;   post traumatic porencephaly
 primary_id: MESH:D065708
 alt_id: OMIM:175780;   RDO:0015948
 xref: GARD:7430;   ORDO:2940
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porencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872
RGD:13450938
RGD:11554173
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
Porencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    physical disorder 742
      congenital nervous system abnormality 299
        microcephaly 208
          porencephaly 3
            Porencephaly 2 1
            Porencephaly Cerebellar Hypoplasia Malformations 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                microcephaly 208
                  porencephaly 3
                    Porencephaly 2 1
                    Porencephaly Cerebellar Hypoplasia Malformations 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.