Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PORENCEPHALY 1

Synonyms

T1P

ID

http://purl.bioontology.org/ontology/OMIM/175780

altLabel

T1P

ADT1P

POREN1

HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1

PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT

cui

C1867983

Gene Locus

13q34

Gene Symbol

RATOR

COL4A1

BSVD

POREN1

HANAC

ICH

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU045245

http://purl.bioontology.org/ontology/OMIM/MTHU034013

http://purl.bioontology.org/ontology/OMIM/MTHU016070

http://purl.bioontology.org/ontology/OMIM/MTHU016076

http://purl.bioontology.org/ontology/OMIM/MTHU001899

http://purl.bioontology.org/ontology/OMIM/MTHU036896

http://purl.bioontology.org/ontology/OMIM/MTHU016074

http://purl.bioontology.org/ontology/OMIM/MTHU000870

http://purl.bioontology.org/ontology/OMIM/MTHU037111

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU000544

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU026434

http://purl.bioontology.org/ontology/OMIM/MTHU045246

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU045244

http://purl.bioontology.org/ontology/OMIM/MTHU006276

http://purl.bioontology.org/ontology/OMIM/MTHU016073

http://purl.bioontology.org/ontology/OMIM/MTHU016071

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU029060

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU007068

http://purl.bioontology.org/ontology/OMIM/MTHU006148

http://purl.bioontology.org/ontology/OMIM/MTHU016075

http://purl.bioontology.org/ontology/OMIM/MTHU000098

http://purl.bioontology.org/ontology/OMIM/MTHU027396

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU037110

http://purl.bioontology.org/ontology/OMIM/MTHU000136

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

175780

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PORENCEPHALY 1

tui

T047

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http://purl.bioontology.org/ontology/MESH/D065708 Medical Subject Headings CUI