Visualize Submit Comment
Metadata
ID DOID:0110121
PURL http://purl.obolibrary.org/obo/DOID_0110121 Copy
Name Axenfeld-Rieger syndrome type 2
Definition An Axenfeld-Rieger syndrome characterized by bnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals that has_material_basis_in deletions in the region 13q14.
https://www.ncbi.nlm.nih.gov/pubmed/8751862
Xrefs

ICD10CM:Q13.8

MIM:601499

Synonyms

RIEG2 [EXACT]

Rieger syndrome type 2 [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

is_a Axenfeld-Rieger syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

has material basis in some deletion and has material basis in some chromosome

Add an item to the term tracker