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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Keratoderma, Palmoplantar (D007645)
Parent Node: Lower Extremity Deformities, Congenital (D038061)
..Starting node ..Corneodermatoosseous syndrome (C536444)
Child Nodes:
Sister Nodes:
..Corneodermatoosseous syndrome (C536444)
..Ectrodactyly cardiopathy dysmorphism (C536187)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Familial streblodactyly (C536852)
..Foot Deformities, Congenital (D005532) 78
..Holt-Oram syndrome (C535326)
..Merlob Grunebaum Reisner syndrome (C537461)
..Nasodigitoacoustic syndrome (C538337)
..Popliteal Pterygium Syndrome (C562509)
..Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum (C563787)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3048
Name:	Corneodermatoosseous syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003317\|MESH:D007645\|MESH:D038061
TreeNumbers:	C05.660.585.512/C536444 \|C11.204.236/C536444 \|C11.270.162/C536444 \|C16.131.621.585.512/C536444 \|C16.320.290.162/C536444 \|C16.320.850.475/C536444 \|C17.800.428.435/C536444 \|C17.800.827.475/C536444
Synonyms:	CDO syndrome \|Corneal dystrophy epithelial and short stature \|Corneal dystrophy, epithelial, with skin and skeletal changes
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Musculoskeletal disease\|Skin disease
Reference:	MedGen: C536444 MeSH: C536444 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal