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: arthrogryposis multiplex congenita (MONDO:0015168)
Parent Node: congenital nervous system disorder (MONDO:0002320)
Parent Node: hereditary motor neuron disease (MONDO:0024257)
..Starting node ..prenatal-onset spinal muscular atrophy with congenital bone fractures ()
Child Nodes:
........spinal muscular atrophy with congenital bone fractures 1 ()
........spinal muscular atrophy with congenital bone fractures 2 ()
Sister Nodes:
..agenesis of the corpus callosum with peripheral neuropathy ()
..distal hereditary motor neuropathy ()
..familial amyotrophic lateral sclerosis ()
..lateral sclerosis ()
..motor neuron disease with dementia and ophthalmoplegia ()
..neurogenic scapuloperoneal syndrome, Kaeser type ()
..prenatal-onset spinal muscular atrophy with congenital bone fractures ()
..proximal spinal muscular atrophy ()
..spinal muscular atrophy-progressive myoclonic epilepsy syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	209
Name:	prenatal-onset spinal muscular atrophy with congenital bone fractures
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	SMABF; spinal muscular atrophy with congenital bone fractures
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal