Human Phenotype Ontology 
Grandparent Node:
expandImmunodeficiency (HP:0002721)help
Parent Node:
expandCellular immunodeficiency (HP:0005374)help
..Starting node
..expandSevere T-cell immunodeficiency (HP:0005352)help
Term ID: 5352
Name: Severe T-cell immunodeficiency
Synonym: Severe T-cell immunodeficiency
Definition: A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.
Comments:
Reference: HP:0005352
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005352HP:0005352Severe T-cell immunodeficiency0FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY.54
HP:0005352HP:0005352Severe T-cell immunodeficiency0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0005352HP:0005352Severe T-cell immunodeficiency0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74


Genes (3) :FOXN1 FRAS1 SMARCAL1

Diseases (3) :OMIM:601705 OMIM:219000 ORPHA:1830
 

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