Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

AXENFELD-RIEGER SYNDROME, TYPE 1
Synonyms

RIEG
ID

http://purl.bioontology.org/ontology/OMIM/180500
altLabel

RIEG

RIEGER SYNDROME, TYPE 1

RGS

RIEG1
cui

C3714873
Gene Locus

4q25-q26
Gene Symbol

PITX2

IDG2

RGS

ASGD4

IGDS2

RIEG1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU009481

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU015784

http://purl.bioontology.org/ontology/OMIM/MTHU027440

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU015788

http://purl.bioontology.org/ontology/OMIM/MTHU015786

http://purl.bioontology.org/ontology/OMIM/MTHU015448

http://purl.bioontology.org/ontology/OMIM/MTHU002108

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU013074

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU015789

http://purl.bioontology.org/ontology/OMIM/MTHU027439

http://purl.bioontology.org/ontology/OMIM/MTHU015787

http://purl.bioontology.org/ontology/OMIM/MTHU015785

http://purl.bioontology.org/ontology/OMIM/MTHU004822

http://purl.bioontology.org/ontology/OMIM/MTHU015783

http://purl.bioontology.org/ontology/OMIM/MTHU003464

http://purl.bioontology.org/ontology/OMIM/MTHU001447

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU002202

http://purl.bioontology.org/ontology/OMIM/MTHU007655
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

180500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

AXENFELD-RIEGER SYNDROME, TYPE 1
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0110120 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C535679 Medical Subject Headings CUI