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DO Term : Jalili syndrome [DOID:0111404] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.

synonyms:
SNOMEDCT_US_2023_03_01:707608003,
GARD:1463,
MESH:C000596385,
UMLS_CUI:C3495589,
217080,
OMIM:217080,
Cone rod dystrophy-amelogenesis imperfecta syndrome,
ORDO:1873,
cone-rod dystrophy and amelogenesis imperfecta

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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