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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

Disease Browser
Parent Node: Acanthosis Nigricans (D000052)
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Hypohidrosis (D007007)
..Starting node ..Lelis Syndrome (C564261)
Child Nodes:
Sister Nodes:
..Ameloonychohypohidrotic syndrome (C538245)
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..Harlequin syndrome (C535634)
..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) 1
..Lelis Syndrome (C564261)
..Naegeli syndrome (C538331)
..Van Den Bosch Syndrome (C563129)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6298
Name:	Lelis Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000052\|MESH:D004476\|MESH:D007007
TreeNumbers:	C16.131.077.350/C564261 \|C16.131.831.350/C564261 \|C16.320.850.250/C564261 \|C17.800.621.430.530.100/C564261 \|C17.800.804.350/C564261 \|C17.800.827.250/C564261 \|C17.800.946.370/C564261
Synonyms:	Ectodermal Dysplasia, Hypohidrotic, with Acanthosis Nigricans
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Skin disease
Reference:	MedGen: C564261 MeSH: C564261 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants