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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: Congenital Abnormalities (D000013)
Parent Node: Fanconi Syndrome (D005198)
Parent Node: Ichthyosis (D007057)
Parent Node: Jaundice (D007565)
..Starting node ..Deal Barratt Dillon syndrome (C538206)
Child Nodes:
Sister Nodes:
..Deal Barratt Dillon syndrome (C538206)
..Dysmyelination With Jaundice (C565610)
..Jaundice, Obstructive (D041781) 2
..Lutz Richner Landolt syndrome (C537726)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3136
Name:	Deal Barratt Dillon syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D005198\|MESH:D007057\|MESH:D007565
TreeNumbers:	C12.777.419.250/C538206 \|C12.777.419.815.450/C538206 \|C13.351.968.419.250/C538206 \|C13.351.968.419.815.450/C538206 \|C16.131.831.512/C538206 \|C16.131/C538206 \|C16.320.565.861.450/C538206 \|C16.614.492/C538206 \|C17.800.428.333/C538206 \|C17.800.804.512/C538206 \|C18.45
Synonyms:	Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Infant-newborn disease\|Metabolic disease\|Pathology (process)\|Signs and symptoms\|Skin disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C538206 MeSH: C538206 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants