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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: Anemia, Hemolytic, Congenital (D000745)
Parent Node: Hydrops Fetalis (D015160)
..Starting node ..Xerocytosis, hereditary (C536764)
Child Nodes:
Sister Nodes:
..Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (C566369)
..GREENBERG DYSPLASIA (OMIM:215140)
..Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)
..Nuchal bleb, familial (C537852)
..Xerocytosis, hereditary (C536764)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11817
Name:	Xerocytosis, hereditary
Definition:
Alternative IDs:
ParentIDs:	MESH:D000745\|MESH:D015160
TreeNumbers:	C13.703.277.060.480/C536764 \|C15.378.071.141.150/C536764 \|C15.378.295.480/C536764 \|C15.378.420.826.100.350/C536764 \|C16.300.060.480/C536764 \|C16.320.070/C536764 \|C16.320.365.826.100.350/C536764 \|C20.306.480/C536764 \|C23.888.277.395/C536764
Synonyms:	Dehydrated hereditary stomatocytosis \|Desiccytosis, hereditary \|Hereditary Xerocytosis
Slim Mappings:	Blood disease\|Fetal disease\|Genetic disease (inborn)\|Immune system disease\|Pregnancy complication\|Signs and symptoms
Reference:	MedGen: C536764 MeSH: C536764 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants