Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

COLLAGEN, TYPE IV, ALPHA-1

Synonyms

PORENCEPHALY 1

ID

http://purl.bioontology.org/ontology/OMIM/120130

altLabel

PORENCEPHALY 1

COL4A1

HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO

BRAIN SMALL VESSEL DISEASE

ARRESTEN

COLLAGEN OF BASEMENT MEMBRANE, ALPHA-1 CHAIN

BRAIN SMALL VESSEL DISEASE WITH OCULAR ANOMALIES

RETINAL ARTERIES, TORTUOSITY OF, INCLUDED (1 family)

SCHIZENCEPHALY

ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS

cui

C4013035

C1413582

C3281105

C4015946

C4225664

C1867983

C0266484

C2673195

Gene Locus

13q34

Gene Symbol

RATOR

COL4A1

BSVD

POREN1

HANAC

ICH

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/120130.0019

http://purl.bioontology.org/ontology/OMIM/120130.0011

http://purl.bioontology.org/ontology/OMIM/120130.0010

http://purl.bioontology.org/ontology/OMIM/120130.0023

http://purl.bioontology.org/ontology/OMIM/120130.0003

http://purl.bioontology.org/ontology/OMIM/120130.0022

http://purl.bioontology.org/ontology/OMIM/120130.0024

http://purl.bioontology.org/ontology/OMIM/120130.0004

http://purl.bioontology.org/ontology/OMIM/120130.0016

http://purl.bioontology.org/ontology/OMIM/120130.0017

http://purl.bioontology.org/ontology/OMIM/120130.0009

http://purl.bioontology.org/ontology/OMIM/120130.0005

http://purl.bioontology.org/ontology/OMIM/120130.0018

http://purl.bioontology.org/ontology/OMIM/120130.0001

http://purl.bioontology.org/ontology/OMIM/120130.0021

http://purl.bioontology.org/ontology/OMIM/120130.0002

http://purl.bioontology.org/ontology/OMIM/120130.0012

http://purl.bioontology.org/ontology/OMIM/120130.0013

http://purl.bioontology.org/ontology/OMIM/120130.0020

http://purl.bioontology.org/ontology/OMIM/120130.0007

http://purl.bioontology.org/ontology/OMIM/120130.0006

http://purl.bioontology.org/ontology/OMIM/120130.0015

http://purl.bioontology.org/ontology/OMIM/120130.0014

http://purl.bioontology.org/ontology/OMIM/120130.0008

MIMTYPEMEANING

Gene with known sequence

notation

120130

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COLLAGEN, TYPE IV, ALPHA-1

tui

T028

T019

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D065707 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567088 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D065708 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.6 International Classification of Diseases, Version 10 - Clinical Modification CUI