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: spinal cord disease (MONDO:0002545)
..Starting node ..anterior horn disease ()
Child Nodes:
........amyotrophic lateral sclerosis ()
........poliomyelitis ()
........spinal muscular atrophy ()
Sister Nodes:
..anterior horn disease ()
..myelitis ()
..spina bifida (disease) ()
..spinal cord injury ()
..spinal cord neoplasm ()
..syringomyelia ()
..tethered spinal cord syndrome ()
..vascular myelopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3182
Name:	anterior horn disease
Definition:	Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of ventral horn of spinal cord; disease or disorder of ventral horn of spinal cord; disorder of ventral horn of spinal cord; disorder of ventral horn of spinal cord; ventral horn of spinal cord disease; ventral horn of spinal cord disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal