Rare diseases · Sign or symptom
Abnormality of the respiratory system
HP:0002086
What it means
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Rare diseases that can present with this40
Very common80–99%
6- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Congenital pulmonary airway malformation
- Familial spontaneous pneumothorax
- Mounier-Kühn syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- White forelock with malformations
Common30–79%
12- ALG3-CDG
- Asbestos intoxication
- Brain-lung-thyroid syndrome
- Congenital enterovirus infection
- Congenital fiber-type disproportion myopathy
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Familial hemophagocytic lymphohistiocytosis
- Farber disease
- Hydrolethalus
- Kaposiform lymphangiomatosis
- Pauci-immune glomerulonephritis
- SLC35A2-CDG
Sometimes5–29%
15- Bethlem muscular dystrophy
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Congenital unilateral hypoplasia of depressor anguli oris
- Cushing disease
- Cushing syndrome due to ectopic ACTH secretion
- Glutaryl-CoA dehydrogenase deficiency
- Hypoplasminogenemia
- Isolated polycystic liver disease
and 7 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: Respiratory abnormality
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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.