Rare diseases · Sign or symptom
Dyspnea
Breathing difficulty
HP:0002094
What it means
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Rare diseases that can present with this182
Very common80–99%
22- Acute interstitial pneumonia
- Adult acute respiratory distress syndrome
- Bronchiolitis obliterans
- Bronchopulmonary dysplasia
- Diffuse cutaneous systemic sclerosis
- Drug-induced lupus erythematosus
- High altitude pulmonary edema
- Hughes-Stovin syndrome
- Imperforate oropharynx-costovertebral anomalies syndrome
- Isolated congenital hypoglossia/aglossia
- Isolated right ventricular hypoplasia
- Lymphangioleiomyomatosis
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Mixed connective tissue disease
- Oculocerebrofacial syndrome, Kaufman type
- Pneumocystosis
- Primary effusion lymphoma
- Primary familial and congenital erythrocytosis
- Radio-renal syndrome
- Staphylococcal necrotizing pneumonia
- Thrombotic thrombocytopenic purpura
- Tropical endomyocardial fibrosis
Common30–79%
57- Acquired methemoglobinemia
- Acute lung injury
- Acute myelomonocytic leukemia
- Adult intestinal botulism
- Alpha-thalassemia-myelodysplastic syndrome
- American trypanosomiasis
- Amyotrophic lateral sclerosis
- Aneurysm of sinus of Valsalva
- Antisynthetase syndrome
- Asbestos intoxication
- Autoimmune pulmonary alveolar proteinosis
- Beta-thalassemia major
- Bickerstaff brainstem encephalitis
- Bronchial neuroendocrine tumor
- Cardiogenic shock
- Chronic beryllium disease
- Congenital Gerbode defect
- Congenital lobar emphysema
- Craniofaciofrontodigital syndrome
- Cryptogenic organizing pneumonia
- Danon disease
- Ear-patella-short stature syndrome
- Evans syndrome
- Familial idiopathic dilatation of the right atrium
- Fixed subaortic stenosis
- Gaucher disease type 2
- Hereditary angioedema type 1
- Hereditary atrial fibrillation
- Hereditary myopathy with early respiratory failure
- Hereditary progressive cardiac conduction defect
- Homozygous familial hypercholesterolemia
- Hypocomplementemic urticarial vasculitis
- Iatrogenic botulism
- Idiopathic bronchiectasis
- Idiopathic chronic eosinophilic pneumonia
- Idiopathic/heritable pulmonary arterial hypertension
- Immune-mediated thrombotic thrombocytopenic purpura
- Infant botulism
- Inhalational anthrax
- Inhalational botulism
- Isolated atrial standstill
- Kaposiform lymphangiomatosis
- Keppen-Lubinsky syndrome
- Laryngotracheoesophageal cleft
- Loeffler endocarditis
- Lymphedema with yellow nails
- Lymphoid interstitial pneumonia
- Mercury poisoning
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Myasthenia gravis
- Nocardiosis
- Osteosclerotic bone dysplasia
- Paroxysmal nocturnal hemoglobinuria
- Peripartum cardiomyopathy
- Pleural mesothelioma
- Primary hepatic neuroendocrine carcinoma
- Primary triglyceride deposit cardiomyovasculopathy
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: Abnormal breathing · Difficult to breathe · Difficulty breathing · Dyspnoea · Panting · Shortness of breath · Trouble breathing
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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.