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: cranial nerve neuropathy (MONDO:0003569)
Parent Node: peripheral nervous system disease (MONDO:0003620)
..Starting node ..trochlear nerve disease ()
Child Nodes:
........fourth cranial nerve palsy ()
........trochlear nerve neoplasm ()
Sister Nodes:
..abducens nerve disease ()
..accessory nerve disease ()
..autoimmune disease of peripheral nervous system ()
..autonomic nervous system disease ()
..cauda equina syndrome ()
..facial nerve disease ()
..glossopharyngeal nerve disease ()
..hypoglossal nerve disease ()
..neuroma ()
..olfactory nerve disease ()
..peripheral nervous system neoplasm ()
..peripheral neuropathy ()
..peroneal nerve paralysis ()
..radiculopathy ()
..third cranial nerve disease ()
..trigeminal nerve disease ()
..trochlear nerve disease ()
..vestibulocochlear nerve disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	7002
Name:	trochlear nerve disease
Definition:	A disease involving the trochlear nerve.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of trochlear nerve; disease or disorder of trochlear nerve; disorder of trochlear nerve; disorder of trochlear nerve; IVth cranial nerve disorder; IVth nerve disorder; superior oblique muscle innervation disorder; trochlear nerve disease; trochlear nerve disease or disorder; trochlear nerve
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal