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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia 
congenital dyserythropoietic anemia +  
congenital nonspherocytic hemolytic anemia +  
cryohydrocytosis 
cutaneous porphyria 
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 
elliptocytosis 2 
familial pseudohyperkalemia 
glycogen storage disease due to aldolase A deficiency 
glycogen storage disease VII 
hemolytic anemia due to adenylate kinase deficiency 
hemolytic anemia due to diphosphoglycerate mutase deficiency 
hemolytic anemia due to erythrocyte adenosine deaminase overproduction 
hemolytic anemia due to glutathione reductase deficiency 
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 
hereditary cryohydrocytosis with reduced stomatin 
hereditary spherocytosis +  
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.
non-spherocytic hemolytic anemia due to hexokinase deficiency 
overhydrated hereditary stomatocytosis 
primary CD59 deficiency 
renal tubular acidosis, distal, 4, with hemolytic anemia 
Rh deficiency syndrome 
southeast Asian ovalocytosis 
triosephosphate isomerase deficiency 

Synonyms
Exact Synonyms: Minkowski Chauffard syndrome ;   Minkowski-Chauffard disease ;   congenital spherocytic hemolytic anaemia ;   congenital spherocytic hemolytic anemia ;   spherocytic anaemia ;   spherocytic anemia
Related Synonyms: congenital spherocytosis
Alternate IDs: MONDO:0019350
Xrefs: DOID:12971 ;   GARD:6639 ;   ICD10CM:D58.0 ;   ICD9:282.0 ;   MEDGEN:52450 ;   MESH:D013103 ;   MedDRA:10019904 ;   NANDO:2200622 ;   NCI:C97074 ;   NORD:777
see_also: https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis" xsd:anyURI {source="GARD:0006639
Definition Sources: Orphanet:822

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