Disease #00049 (SD (Salla disease (SD)), OMIM:604369)

Official abbreviation SD
Name Salla disease (SD)
OMIM ID 604369
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene SLC17A5
Associated tissues -
Disease features -
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00080925 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - SD Salla disease (OMIM:604369) SLC17A5 SLC17A5 1 1 Daniel Trujillano
00401512 124P - - M no Spain - - - - - ID, ISSD, SD - - SLC17A5 2 1 Alejandro Brea-Fernández
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