Human Phenotype Ontology 
Grandparent Node:
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Immunodeficiency (HP:0002721)help
Parent Node:
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Combined immunodeficiency (HP:0005387)help
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Severe combined immunodeficiency (HP:0004430)help
Term ID: 4430
Name: Severe combined immunodeficiency
Synonym: Immunodeficiency, severe combined
Definition: A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
Comments:
Reference: HP:0004430
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004430HP:0004430Severe combined immunodeficiency0ADA CL E G H10039041ORPHA196215186608958
HP:0004430HP:0004430Severe combined immunodeficiency0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0004430HP:0004430Severe combined immunodeficiency0AK2 CL E G H20433355ORPHA11987362103020
HP:0004430HP:0004430Severe combined immunodeficiency0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0004430HP:0004430Severe combined immunodeficiency0CHD7 CL E G H5563639041ORPHA1884126620626608892
HP:0004430HP:0004430Severe combined immunodeficiency0DCLRE1C CL E G H6442139041ORPHA19131817642605988
HP:0004430HP:0004430Severe combined immunodeficiency0DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM19131817642605988
HP:0004430HP:0004430Severe combined immunodeficiency0IL2RG CL E G H356139041ORPHA12502716010308380
HP:0004430HP:0004430Severe combined immunodeficiency0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM12502716010308380
HP:0004430HP:0004430Severe combined immunodeficiency0IL7R CL E G H357539041ORPHA1592406024146661
HP:0004430HP:0004430Severe combined immunodeficiency0IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0004430HP:0004430Severe combined immunodeficiency0JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM1833416193600173
HP:0004430HP:0004430Severe combined immunodeficiency0LIG4 CL E G H398139041ORPHA1403176601601837
HP:0004430HP:0004430Severe combined immunodeficiency0LIG4 CL E G H398199812ORPHA1403176601601837
HP:0004430HP:0004430Severe combined immunodeficiency0MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM114447432172460
HP:0004430HP:0004430Severe combined immunodeficiency0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM1115749413600899
HP:0004430HP:0004430Severe combined immunodeficiency0PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM182259666151460
HP:0004430HP:0004430Severe combined immunodeficiency0RAG1 CL E G H5896231154ORPHA11873349831179615
HP:0004430HP:0004430Severe combined immunodeficiency0RAG1 CL E G H589639041ORPHA11873349831179615
HP:0004430HP:0004430Severe combined immunodeficiency0RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11873349831179615
HP:0004430HP:0004430Severe combined immunodeficiency0RAG2 CL E G H589739041ORPHA1841759832179616
HP:0004430HP:0004430Severe combined immunodeficiency0RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1841759832179616
HP:0004430HP:0004430Severe combined immunodeficiency0RMRP CL E G H602339041ORPHA112341110031157660
HP:0004430HP:0004430Severe combined immunodeficiency0TTC7A CL E G H57217436252ORPHA14627919750609332
HP:0004430HP:0004430Severe combined immunodeficiency0XRCC4 CL E G H751899812ORPHA1153712831194363
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004430HP:0004430Severe combined immunodeficiency0TTC7A CL E G H57217243150Multiple gastrointestinal atresias243150C0220744OMIM04627919750609332


Genes (17) :ADA AK2 BCL11B CHD7 DCLRE1C IL2RG IL7R JAK3 LIG4 MTHFD1 PRKDC PTPRC RAG1 RAG2 RMRP TTC7A XRCC4

Diseases (15) :39041 102700 33355 617237 602450 300400 608971 600802 99812 617780 615966 231154 601457 436252 243150
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.