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: bone disease (MONDO:0005381)
Parent Node: head disease (MONDO:0005042)
..Starting node ..skull disorder ()
Child Nodes:
........disease of facial skeleton ()
........paranasal sinus disease ()
........skull neoplasm ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24654
Name:	skull disorder
Definition:	A non-neoplastic or neoplastic disorder that affects structures of the skull.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of skull; disease or disorder of skull; disorder of skull; disorder of skull; skull disease; skull disease or disorder; skull disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal