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DO Term : AMME complex [DOID:0111860] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.

synonyms:
300194,
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,
UMLS_CUI:C1846242,
OMIM:300194,
chromosome Xq22.3 telomeric deletion syndrome,
MESH:C564570,
ATS-MR,
ORDO:86818,
AMME syndrome,
SNOMEDCT_US_2023_03_01:720982007

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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