loading...| Preferred Name |
Porencephaly |
| Synonyms |
Familial Porencephaly |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D065708 |
| altLabel |
Familial Porencephaly Porencephaly, Type 1, Autosomal Dominant Col4a1 Related Brain Small Vessel Disease Porencephaly, Encephaloclastic Porencephalies Developmental Porencephaly Congenital Porencephaly Infantile Hemiplegia with Porencephaly Brain Small Vessel Disease With Axenfeld Rieger Anomaly Brain Small Vessel Disease With Axenfeld-Rieger Anomaly Porencephaly, Familial Encephaloclastic Porencephaly Porencephalies, Post-traumatic Familial Porencephalic White Matter Disease Brain Small-Vessel Disease with Hemorrhage Porencephaly, Congenital Type 1 Porencephaly Post traumatic Porencephaly Porencephaly, Type 1 Porencephalies, Posttraumatic Posttraumatic Porencephalies Post-traumatic Porencephalies Leukoencephalopathy with Axenfeld Rieger Anomaly Brain Small Vessel Disease with Hemorrhage Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant Porencephaly, Developmental Porencephaly Type 1 Post-traumatic Porencephaly Col4a1-Related Brain Small-Vessel Disease Porencephaly, Posttraumatic Porencephaly, Post-traumatic Autosomal Dominant Porencephaly Type 1 Posttraumatic Porencephaly Leukoencephalopathy with Axenfeld-Rieger Anomaly |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C3698507 C4082301 C0302892 C4551998 C4082173 |
| DC |
1 |
| 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. |
| DX |
20150101 |
| FX |
D024141 |
| HN |
2015 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
2015 |
| Mapped from | |
| MDA |
20140626 |
| MMR |
20210510 |
| MN |
C16.131.621.207.620.500 C05.660.207.620.500 C10.500.507.500.625 C16.131.666.507.500.625 |
| notation |
D065708 |
| prefLabel |
Porencephaly |
| TERMUI |
T841419 T841135 T853591 T809094 T841418 T853588 T809096 T000967156 T841420 T853575 T809098 T829553 T853592 T810075 T853572 T841136 T001005039 T829552 T853584 T853576 |
| TH |
NLM (2021) NLM (2015) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T020 T019 T047 |
| subClassOf |