Rare diseases · Sign or symptom
Abnormality of immune system physiology
HP:0010978
What it means
A functional abnormality of the immune system.
Rare diseases that can present with this36
Very common80–99%
15- Autosomal recessive spondylocostal dysostosis
- Cheilitis glandularis
- Distal monosomy 7q36 syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Erythroderma desquamativum
- Familial benign copper deficiency
- Ghosal hematodiaphyseal dysplasia
- Glutathione synthetase deficiency
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- Megalocornea-intellectual disability syndrome
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
- Oculocerebral hypopigmentation syndrome, Preus type
- Sepsis in premature infants
- Triose phosphate-isomerase deficiency
Common30–79%
9The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Abnormality of immune system physiology
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.