Human Disease Ontology 123

Last uploaded: September 28, 2023
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Preferred Name

Fanconi renotubular syndrome 1
Definitions

A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21.
ID

http://purl.obolibrary.org/obo/DOID_0080757
database_cross_reference

OMIM:134600
definition

A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21.
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:0080757
label

Fanconi renotubular syndrome 1
notation

DOID:0080757
prefLabel

Fanconi renotubular syndrome 1
subClassOf

http://purl.obolibrary.org/obo/DOID_1062

http://purl.obolibrary.org/obo/DOID_0050736
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http://purl.bioontology.org/ontology/OMIM/134600 Online Mendelian Inheritance in Man LOOM