Human Phenotype Ontology 
Grandparent Node:
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Anemia due to reduced life span of red cells (HP:0011895)help
Parent Node:
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Hemolytic anemia (HP:0001878)help
..Starting node
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Congenital hemolytic anemia (HP:0004804)help
Term ID: 4804
Name: Congenital hemolytic anemia
Synonym: Congenital haemolytic anaemia; Congenital haemolytic anemia; Congenital hemolytic anaemia; Neonatal hemolytic anaemia; Neonatal hemolytic anemia
Definition: A form of hemolytic anemia with congenital onset.
Comments:
Reference: HP:0004804
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAutoimmune hemolytic anemia (HP:0001890) help
..expandChronic hemolytic anemia (HP:0004870) help
..expandCold-induced hemolysis (HP:0031484) help
..expandCompensated hemolytic anemia (HP:0004863) help
..expandCoombs-positive hemolytic anemia (HP:0004844) help
..expandDrug-sensitive hemolytic anemia (HP:0004817) help
..expandEpisodic hemolytic anemia (HP:0004802) help
..expandExercise-induced hemolysis (HP:0005535) help
..expandFava bean-induced hemolytic anemia (HP:0004814) help
..expandHeinz body anemia (HP:0005511) help
..expandIncreased red cell hemolysis by shear stress (HP:0008269) help
..expandMacrocytic hemolytic disease (HP:0005524) help
..expandMicroangiopathic hemolytic anemia (HP:0001937) help
..expandNonspherocytic hemolytic anemia (HP:0001930) help
..expandSpontaneous hemolytic crises (HP:0005525) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004804HP:0004804Congenital hemolytic anemia0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional6
HP:0004804HP:0004804Congenital hemolytic anemia0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional5
HP:0004804HP:0004804Congenital hemolytic anemia0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040283 - Occasional3
HP:0004804HP:0004804Congenital hemolytic anemia0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040283 - Occasional36
HP:0004804HP:0004804Congenital hemolytic anemia0PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiencyHP:0040282 - Frequent51
HP:0004804HP:0004804Congenital hemolytic anemia0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040283 - Occasional109
HP:0004804HP:0004804Congenital hemolytic anemia0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional228
HP:0004804HP:0004804Congenital hemolytic anemia0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional156


Genes (8) :EPB41 GYPC KCNN4 PIEZO1 PKLR SLC4A1 SPTA1 SPTB

Diseases (3) :ORPHA:288 ORPHA:3202 ORPHA:766
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.