Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Mucolipidoses (D009081)
..Starting node ..Mucolipidosis 2 (C538602)
Child Nodes:
........MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Sister Nodes:
..Microvillus inclusion disease (C537470)
..Mucolipidosis 2 (C538602) 1
..Mucolipidosis II Alpha Beta (C567100)
..Mucolipidosis III Alpha Beta, Atypical (C567099)
..Mucolipidosis III Gamma (C565367)
..Mucolipidosis type 3 A (C537367) 1
..Nephrosialidosis (C562606)
..Neuraminidase 1 deficiency (C537366)
..Sialidosis, Type I (C564955)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7422
Name:	Mucolipidosis 2
Definition:
Alternative IDs:
ParentIDs:	MESH:D009081
TreeNumbers:	C05.116.198.371/C538602 \|C10.228.140.163.100.435.590/C538602 \|C16.320.565.189.435.590/C538602 \|C16.320.565.202.670/C538602 \|C16.320.565.595.554.590/C538602 \|C18.452.132.100.435.590/C538602 \|C18.452.648.189.435.590/C538602 \|C18.452.648.202.670/C538602 \|C18.452.64
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C538602 MeSH: C538602 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants