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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: Cataract (D002386)
Parent Node: Spherocytosis, Hereditary (D013103)
..Starting node ..Goldstein Hutt syndrome (C537282)
Child Nodes:
Sister Nodes:
..Goldstein Hutt syndrome (C537282)
..Spherocytosis, Type 1 (C567159)
..Spherocytosis, Type 3 (C567489)
..Spherocytosis, Type 4 (C567208)
..Spherocytosis, Type 5 (C567202)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4754
Name:	Goldstein Hutt syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002386\|MESH:D013103
TreeNumbers:	C11.510.245/C537282 \|C15.378.071.141.150.785/C537282 \|C16.320.070.785/C537282
Synonyms:	Long eyelashes, cataract, and hereditary spherocytosis \|Trichomegaly, cataract, and hereditary spherocytosis
Slim Mappings:	Blood disease\|Eye disease\|Genetic disease (inborn)
Reference:	MedGen: C537282 MeSH: C537282 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants