Rare diseases · Sign or symptom
Abnormality of the endocrine system
HP:0000818
What it means
An abnormality of the endocrine system.
The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions.
Rare diseases that can present with this27
Very common80–99%
6Common30–79%
5Sometimes5–29%
12- African trypanosomiasis
- Alobar holoprosencephaly
- Bardet-Biedl syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- MGAT2-CDG
- Midline interhemispheric variant of holoprosencephaly
- Neurofibromatosis type 1
and 4 more in this range
The 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
Also called: Endocrine system disease
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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.