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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Lysosomal Storage Diseases (D016464)
..Starting node ..Glutamyl Ribose-5-Phosphate Storage Disease (C564422)
Child Nodes:
Sister Nodes:
..Aspartylglucosaminuria (D054880) 1
..Cholesterol Ester Storage Disease (D015217) 3
..Cystinosis (D003554) 4
..Glutamyl Ribose-5-Phosphate Storage Disease (C564422)
..Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency (C538648)
..Lysosomal Storage Diseases, Nervous System (D020140) 70
..Mannosidase Deficiency Diseases (D044904) 6
..Mucopolysaccharidoses (D009083) 10
..Neuraminidase deficiency with beta-galactosidase deficiency (C536411)
..Pycnodysostosis (D058631)
..Schindler Disease, Type I (C536631)
..Vacuolar myopathy (C536522)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4691
Name:	Glutamyl Ribose-5-Phosphate Storage Disease
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D016464
TreeNumbers:	C16.131.077/C564422 \|C16.320.565.595/C564422 \|C18.452.648.595/C564422
Synonyms:	ADP-Ribose Protein Hydrolase Deficiency
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Metabolic disease
Reference:	MedGen: C564422 MeSH: C564422 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants