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: nervous system disorder (MONDO:0005071)
Parent Node: sarcoidosis (MONDO:0019338)
..Starting node ..neurosarcoidosis ()
Child Nodes:
........cerebral sarcoidosis ()
........sarcoid meningitis ()
Sister Nodes:
..cardiac sarcoidosis ()
..hypercalcemic sarcoidosis ()
..LC6fgren syndrome ()
..neurosarcoidosis ()
..pulmonary sarcoidosis ()
..sarcoidosis, early-onset ()
..skin sarcoidosis ()
..SS3 ()
..uveoparotid fever ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	45047
Name:	neurosarcoidosis
Definition:	A sarcoidosis that involves the nervous system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	nervous system sarcoidosis; neurosarcoidosis; sarcoidosis of nervous system
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal