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: face disease (MONDO:0044987)
Parent Node: skull disorder (MONDO:0024654)
..Starting node ..disease of facial skeleton ()
Child Nodes:
........alveolar periostitis ()
........cochlear disease ()
........craniopharyngioma ()
........enlarged vestibular aqueduct syndrome ()
........ethmoid sinusitis ()
........jugular foramen meningioma ()
........mastoiditis (disease) ()
........maxillary sinus cholesteatoma ()
........maxillary sinusitis ()
........neoplasm of jaw ()
........orbit neoplasm ()
........petrositis ()
........schwannoma of jugular foramen ()
........sphenoid sinusitis ()
........sphenoidal sinus neoplasm ()
........suprasellar meningioma ()
........tuberculum sellae meningioma ()
Sister Nodes:
..disease of facial skeleton ()
..paranasal sinus disease ()
..skull neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	23369
Name:	disease of facial skeleton
Definition:	A disease that involves the facial skeleton.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of facial skeleton; disease or disorder of facial skeleton; disorder of facial skeleton; disorder of facial skeleton; facial skeleton disease; facial skeleton disease or disorder; maxillo-facial disease; maxillofacial anomaly
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal