MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: neurodegenerative disease (MONDO:0005559)
..Starting node ..brachial amyotrophic diplegia ()
Child Nodes:
Sister Nodes:
..amyotrophic lateral sclerosis ()
..brachial amyotrophic diplegia ()
..cerebellar degeneration ()
..cerebral degeneration ()
..corticobasal degeneration disorder ()
..demyelinating disease ()
..eye degenerative disease ()
..inherited neurodegenerative disorder ()
..Marchiafava-Bignami disease ()
..neuroaxonal dystrophy ()
..neurodegenerative disease with chorea ()
..neurodegenerative disease with dementia ()
..olivopontocerebellar atrophy ()
..optic atrophy ()
..primary progressive apraxia of speech ()
..secondary Parkinson disease ()
..senile degeneration of brain ()
..synucleinopathy ()
..tauopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20708
Name:	brachial amyotrophic diplegia
Definition:	A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	BAD; brachial amyotrophic diplegia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal