Search Result

1 to 6 of 6

Entry	Name	Description	Category	Gene
H00917	Congenital dyserythropoietic anemia	... disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid hematopoietic cell lineages are morphologically normal. Three ...	Hematologic disease	(CDAIA) CDAN1 [HSA:146059] [KO:K19531] (CDAIB) CDIN1 [HSA:84529] [KO:K24865] (CDAII) SEC23B [HSA:10483] [KO:K14006] (CDAIIIA) KIF23 [HSA:9493] [KO:K17387] (CDAIIIB) RACGAP1 [HSA:29127] [KO:K16733] (CDAIV) KLF1 [HSA:10661] [KO:K09204]
H01144	Ochrobactrum anthropi infection	Ochrobactrum anthropi is a ubiquitous oxidase-producing gram-negative bacillus. The pathogen is recognized increasingly as a causative agent of central catheter-related infections, causing bloodstream ...	Bacterial infectious disease
H01412	Perlman syndrome	... polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in ...	Congenital malformation	DIS3L2 [HSA:129563] [KO:K18758]
H01586	Acquired pure red cell aplasia	... is associated with a marrow of normal cellularity in which there is an almost complete absence of erythroblasts but normal myeloid cells and megakaryocytes. Primary, or secondary PRCA not responding to treatment ...	Hematologic disease
H01844	Diaphanospondylodysostosis	... consistent feature of all described DSD cases are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, and/or cysts. It has been determined that DSD is due to mutations in the BMPER gene ...	Congenital malformation	BMPER [HSA:168667] [KO:K24517]
H02301	Nephroblastoma Wilms tumor	Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ...	Cancer	(WT1) WT1 [HSA:7490] [KO:K09234] (WT5) POU6F2 [HSA:11281] [KO:K09368] (WT6) REST [HSA:5978] [KO:K09222] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] BRCA2 [HSA:675] [KO:K08775] GPC3 [HSA:2719] [KO:K08109]

1 to 6 of 6