loading...| Preferred Name |
Porencephaly |
|
| Synonyms |
Porencephaly, Post-traumatic |
|
| 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 |
Porencephaly, Post-traumatic Brain Small Vessel Disease With Axenfeld-Rieger Anomaly Porencephaly, Type 1 Encephaloclastic Porencephaly Congenital Porencephaly Porencephaly, Encephaloclastic Familial Porencephalic White Matter Disease Leukoencephalopathy with Axenfeld Rieger Anomaly Brain Small Vessel Disease with Hemorrhage Post-traumatic Porencephalies Porencephaly, Familial Autosomal Dominant Porencephaly Type 1 Col4a1 Related Brain Small Vessel Disease Familial Porencephaly Post traumatic Porencephaly Post-traumatic Porencephaly Porencephalies, Post-traumatic Brain Small-Vessel Disease with Hemorrhage Porencephaly, Congenital Porencephaly, Developmental Developmental Porencephaly Type 1 Porencephaly Porencephaly Type 1 Porencephaly, Type 1, Autosomal Dominant Brain Small Vessel Disease With Axenfeld Rieger Anomaly Col4a1-Related Brain Small-Vessel Disease Posttraumatic Porencephaly Porencephalies Porencephaly, Posttraumatic Leukoencephalopathy with Axenfeld-Rieger Anomaly Infantile Hemiplegia with Porencephaly Posttraumatic Porencephalies Porencephalies, Posttraumatic Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant |
|
| 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 |
C4082173 C0302892 C3698507 C4551998 C4082301 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2015 |
|
| Mapped from | ||
| MDA |
20140626 |
|
| MMR |
20210510 |
|
| MN |
C16.131.666.507.500.625 C10.500.507.500.625 C16.131.621.207.620.500 C05.660.207.620.500 |
|
| notation |
D065708 |
|
| prefLabel |
Porencephaly |
|
| TERMUI |
T841420 T809098 T000967156 T829553 T853584 T001005039 T810075 T853591 T809094 T853576 T829552 T853592 T841418 T853575 T853572 T809096 T853588 T841419 T841135 T841136 |
|
| TH |
OMIM (2013) NLM (2015) NLM (2021) GHR (2014) ORD (2010) |
|
| tui |
T047 T020 T019 |
|
| subClassOf |