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: Deafness (D003638)
Parent Node: Ichthyosis, Lamellar (D017490)
..Starting node ..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
Child Nodes:
Sister Nodes:
..Harlequin type ichthyosis (C538424)
..Ichthyosiform erythroderma, Brocq congenital, nonbullous form (C538603)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Ichthyosis, Lamellar, 5 (C564699)
..Lamellar ichthyosis, autosomal dominant form (C537263)
..Lamellar ichthyosis, type 2 (C537264)
..Lamellar ichthyosis, type 3 (C537265)
..Self-Healing Collodion Baby (C565473)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6178
Name:	Ichthyosiform erythroderma, corneal involvement, deafness
Definition:
Alternative IDs:
ParentIDs:	MESH:D003317\|MESH:D003638\|MESH:D017490
TreeNumbers:	C09.218.458.341.186/C537363 \|C10.597.751.418.341.186/C537363 \|C11.204.236/C537363 \|C11.270.162/C537363 \|C16.131.831.512.400.410/C537363 \|C16.320.290.162/C537363 \|C16.320.850.400.410/C537363 \|C16.614.492.400.410/C537363 \|C17.800.428.333.250.410/C537363 \|C17.800.80
Synonyms:	Desmons syndrome \|Ichthyosiform Erythroderma, Corneal Involvement, And Deafness \|Keratitis-ichthyosis-deafness syndrome, autosomal recessive \|Kid Syndrome, Autosomal Recessive
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Eye disease\|Genetic disease (inborn)\|Infant-newborn disease\|Nervous system disease\|Signs and symptoms\|Skin disease
Reference:	MedGen: C537363 MeSH: C537363 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal