Disease browser and phenotype 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

Disease Browser
Parent Node: Ichthyosis, Lamellar (D017490)
..Starting node ..Self-Healing Collodion Baby (C565473)
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, CTD

Term ID:	10113
Name:	Self-Healing Collodion Baby
Definition:
Alternative IDs:
ParentIDs:	MESH:D017490
TreeNumbers:	C16.131.831.512.400.410/C565473 \|C16.320.850.400.410/C565473 \|C16.614.492.400.410/C565473 \|C17.800.428.333.250.410/C565473 \|C17.800.804.512.400.410/C565473 \|C17.800.827.400.410/C565473
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Infant-newborn disease\|Skin disease
Reference:	MedGen: C565473 MeSH: C565473 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants