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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

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Disease Browser
Parent Node: Spinal Muscular Atrophies of Childhood (D014897)
..Starting node ..Amyotrophy, monomelic (C538253)
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:

601

Name:

Amyotrophy, monomelic

Definition:

Alternative IDs:

ParentIDs:

MESH:D014897

TreeNumbers:

C10.228.854.468.800/C538253 |C10.574.500.812/C538253 |C10.574.562.500.750/C538253 |C10.668.467.500.750/C538253 |C10.668.475.500/C538253 |C16.320.400.765/C538253

Synonyms:

Hirayama disease |Monomelic amyotrophy |Spinal muscular atrophy juvenile nonprogressive |Spinal Muscular Atrophy, Juvenile, Nonprogressive

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C538253
MeSH: C538253
OMIM: 602440;

Genes:

Phenotypes

1	HP:0003587	Insidious onset
2	HP:0003445	EMG: neuropathic changes
3	HP:0002380	Fasciculations
4	HP:0007181	Interosseus muscle atrophy
5	HP:0003745	Sporadic
6	HP:0003484	Upper limb muscle weakness

Disease Causing ClinVar Variants