Pharos: deafness with labyrinthine aplasia, microtia, and microdontia (1 associated targets)

Disease Summary

Associated Targets (1)

Tbio

1

GARD Rare

Mondo Description

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

Uniprot Description

Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).

Mondo Term and Equivalent IDs

MONDO:0012541: deafness with labyrinthine aplasia, microtia, and microdontia

GARD:0010707:

MESH:C565195:

OMIM:610706: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA

Orphanet:90024:

SCTID:702360007:

UMLS:C1853144: