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: head or neck disease/disorder (MONDO:0021059)
..Starting node ..head disease ()
Child Nodes:
........basilar artery insufficiency ()
........basilar artery occlusion ()
........cervical aortic arch ()
........cervicofacial actinomycosis ()
........chemotherapy-induced alopecia ()
........cranial nerve neuropathy ()
........disease of ear ()
........face disease ()
........isolated microcephaly ()
........molar-incisor hypomineralization ()
........mouth disease ()
........neoplasm of aortic body ()
........postauricular lymphadenitis ()
........rare maxillo-facial surgical disease ()
........scalp disease ()
........skull disorder ()
........temporal arteritis ()
........temporomandibular joint disorder ()
Sister Nodes:
..cervical artery dissection ()
..cervical disc degenerative disorder ()
..cervical lymphadenitis ()
..faucial diphtheria ()
..genetic head and neck malformation ()
..head and neck neoplasm ()
..head disease ()
..otorhinolaryngologic disease ()
..pharyngitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5042
Name:	head disease
Definition:	A disease involving the head.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of head; disease or disorder of head; disorder of head; disorder of head; head disease; head disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: STX11;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal