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: Exostoses, Multiple Hereditary (D005097)
..Starting node ..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
Child Nodes:
Sister Nodes:
..Chondrodysplasia, blomstrand type (C537914)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
..Exostoses Of Heel (C563167)
..EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
..EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
..Exostoses, Multiple, Type III (C563975)
..Kniest like dysplasia lethal (C537208)
..Metachondromatosis (C562938)
..Metaphyseal acroscyphodysplasia (C537350)
..Multiple Exostoses with Spastic Tetraparesis (C563566)
..Polyposis, Intestinal, With Multiple Exostoses (C566776)
..Potocki-Shaffer syndrome (C538356)
..Stuve-Wiedemann syndrome (C537502)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3588
Name:	Dermochondrocorneal dystrophy of Fran莽ois
Definition:
Alternative IDs:
ParentIDs:	MESH:D003317\|MESH:D005097
TreeNumbers:	C04.557.450.565.575.610.615.325/C535375 \|C04.700.330/C535375 \|C05.116.099.708.670.615.325/C535375 \|C05.116.540.310.500/C535375 \|C11.204.236/C535375 \|C11.270.162/C535375 \|C16.320.290.162/C535375 \|C16.320.700.330/C535375
Synonyms:	Dermochondrocorneal dystrophy \|Francois syndrome
Slim Mappings:	Cancer\|Eye disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C535375 MeSH: C535375 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal