Term info
database cross reference
- UMLS:C1859818 (OMIM:204730)
- MESH:C565960 (MONDO:equivalentTo)
- OMIM:204730 (MONDO:equivalentTo)
- GARD:0000763 (MONDO:equivalentTo)
Subsets
gard_rare
exactMatch
http://linkedlifedata.com/resource/umls/id/C1859818, http://identifiers.org/mesh/C565960, https://omim.org/entry/204730
has exact synonym
amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis
has related synonym
amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
id
MONDO:0008773
seeAlso
https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis