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: facial dermatosis (MONDO:0006548)
Parent Node: nail disease (MONDO:0002884)
Parent Node: syndromic corneal dystrophy (MONDO:0020215)
..Starting node ..Judge Misch wright syndrome ()
Child Nodes:
Sister Nodes:
..Chandler syndrome ()
..congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ()
..corneal dystrophy-perceptive deafness syndrome ()
..corneal-cerebellar syndrome ()
..de Barsy syndrome ()
..dermochondrocorneal dystrophy ()
..Finnish type amyloidosis ()
..Goldenhar syndrome ()
..hereditary benign intraepithelial dyskeratosis ()
..Judge Misch wright syndrome ()
..Mietens syndrome ()
..oculodental syndrome, Rutherfurd type ()
..ophthalmomandibulomelic dysplasia ()
..spastic ataxia-corneal dystrophy syndrome ()
..Stern-Lubinsky-Durrie syndrome ()
..subaortic stenosis-short stature syndrome ()
..syndromic recessive X-linked ichthyosis ()
..TELO2-related intellectual disability-neurodevelopmental disorder ()
..X-linked corneal dermoid ()
..X-linked reticulate pigmentary disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	23521
Name:	Judge Misch wright syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	dry skin, photophobia hyperkeratosis, abnormal fingernails; keratodermia palmoplantar periorificial; palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal