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: disease of facial skeleton (MONDO:0023369)
Parent Node: disease of orbital region (MONDO:0002022)
Parent Node: skull neoplasm (MONDO:0024653)
..Starting node ..orbit neoplasm ()
Child Nodes:
........intraorbital meningioma ()
........orbital cancer ()
Sister Nodes:
..anterior cranial fossa meningioma ()
..cranial nodular fasciitis ()
..jugular foramen meningioma ()
..middle cranial fossa meningioma ()
..neoplasm of jaw ()
..orbit neoplasm ()
..paranasal sinus neoplasm (disease) ()
..posterior cranial fossa meningioma ()
..schwannoma of jugular foramen ()
..skull base neoplasm ()
..skull cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24611
Name:	orbit neoplasm
Definition:	A benign or malignant neoplasm that affects the orbit.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	neoplasm of orbit; neoplasm of orbit of skull; neoplasm of the orbit; orbit neoplasm; orbit of skull neoplasm; orbit of skull tumor; orbit tumor; orbital neoplasm; orbital neoplasms; orbital tumor; tumor of orbit; tumor of orbit of skull; tumor of the orbit
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal