Severe combined immunodeficiency
Symptom Information:
Symptom ID: | HPO:0004430 | |||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the immune system(HPO:0002715) Abnormality of immune system physiology(HPO:0010978) Immunodeficiency(HPO:0002721) Combined immunodeficiency(HPO:0005387) Severe combined immunodeficiency(HPO:0004430) MedDRA: Immune system disorders(MedDRA:10021428) Immunodeficiency syndromes(MedDRA:10021460) Primary immunodeficiency syndromes(MedDRA:10036700) Severe combined immunodeficiency(HPO:0004430) |
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Database Frequency: | 16 / 7739 | |||||||||||||||
Resource: |
All diseases associated with this symptom:
Absent thumb - short stature - immunodeficiency | (Orphanet:2951) |
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency | (Orphanet:231154) |
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | (OMIM:615966) |
LIG4 syndrome | (Orphanet:99812) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
Multiple intestinal atresia | (Orphanet:2300) |
Omenn syndrome | (Orphanet:39041) |
Reticular dysgenesis | (Orphanet:33355) |
Severe combined immunodeficiency | (Orphanet:183660) |
Severe combined immunodeficiency due to DCLRE1C deficiency | (Orphanet:275) |
Severe combined immunodeficiency due to adenosine deaminase deficiency | (Orphanet:277) |
Severe combined immunodeficiency due to complete RAG1/2 deficiency | (Orphanet:331206) |
Short-limb skeletal dysplasia with severe combined immunodeficiency | (Orphanet:935) |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | (Orphanet:169154) |
T-B+ severe combined immunodeficiency due to JAK3 deficiency | (Orphanet:35078) |
T-B+ severe combined immunodeficiency due to gamma chain deficiency | (Orphanet:276) |