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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: Demyelinating Diseases (D003711)
Parent Node: Ophthalmoplegia (D009886)
Parent Node: Spinal Muscular Atrophies of Childhood (D014897)
..Starting node ..Hamano Tsukamoto syndrome (C535625)
Child Nodes:
Sister Nodes:
..Amyotrophy, monomelic (C538253)
..Hamano Tsukamoto syndrome (C535625)
..Muscular atrophy, spinal, infantile chronic form (C536879)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant (C563560)
..Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (C567023)
..Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (C564805)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4877
Name:	Hamano Tsukamoto syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003711\|MESH:D009886\|MESH:D014897
TreeNumbers:	C10.228.854.468.800/C535625 \|C10.292.562.750/C535625 \|C10.314/C535625 \|C10.574.500.812/C535625 \|C10.574.562.500.750/C535625 \|C10.597.622.447/C535625 \|C10.668.467.500.750/C535625 \|C10.668.475.500/C535625 \|C11.590.472/C535625 \|C16.320.400.765/C535625 \|C23.888.592.63
Synonyms:
Slim Mappings:	Eye disease\|Genetic disease (inborn)\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C535625 MeSH: C535625 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants