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Ectopia Lentis 2, Isolated, Autosomal Recessive (MONDO:0009152)

An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.

Overview

Category

Ontology ID

Internal:10396

Synonyms

ECTOL2

ectopia lentis 2, isolated, autosomal recessive

ectopia lentis, isolated, autosomal recessive

autosomal recessive isolated ectopia lentis

autosomal recessive isolated ectopia lentis 2

ectopia lentis, isolated autosomal recessive

Mapped terms

DOID:0111149

GARD:0002060

MEDGEN:762100

OMIM:225100

UMLS:C3541474

Child terms

Unknown children.