Human Phenotype Ontology 
Grandparent Node:
expandAbnormal enzyme/coenzyme activity (HP:0012379)help
Grandparent Node:
expandAbnormal erythrocyte morphology (HP:0001877)help
Parent Node:
expandAbnormal erythrocyte enzyme level (HP:0030272)help
..Starting node
..expandReduced red cell adenosine deaminase level (HP:0030273)help
Term ID: 30273
Name: Reduced red cell adenosine deaminase level
Synonym:
Definition: Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.
Comments:
Reference: HP:0030273
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated red cell adenosine deaminase level (HP:0030270) help
..expandReduced red cell pyruvate kinase level (HP:0025109) 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:0030273HP:0030273Reduced red cell adenosine deaminase level0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75


Genes (1) :ADA

Diseases (1) :OMIM:102700
 

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