Rare diseases · Sign or symptom
Hypoxemia
Low blood oxygen level
HP:0012418
What it means
An abnormally low level of blood oxygen.
Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value.
Rare diseases that can present with this48
Very common80–99%
10- Acute interstitial pneumonia
- Adult acute respiratory distress syndrome
- Bronchiolitis obliterans
- Congenitally uncorrected transposition of the great arteries
- Isolated right ventricular hypoplasia
- Neonatal Marfan syndrome
- Pediatric acute respiratory distress syndrome
- Placental insufficiency
- Pneumocystosis
- SLC35A1-CDG
Common30–79%
20- Acquired methemoglobinemia
- Acute lung injury
- Apnea of prematurity
- Autoimmune pulmonary alveolar proteinosis
- Avian influenza
- Cardiogenic shock
- Chronic pneumonitis of infancy
- Congenital diaphragmatic hernia
- Congenital tricuspid valve dysplasia
- Dysmorphism-short stature-deafness-difference of sex development syndrome
- Eisenmenger syndrome
- Hereditary pulmonary alveolar proteinosis
- Idiopathic chronic eosinophilic pneumonia
- Isolated Pierre Robin sequence
- Lymphoid interstitial pneumonia
- Pericardial and diaphragmatic defect
- Primary pulmonary hypoplasia
- Pulmonary arteriovenous malformation
- Pulmonary capillary hemangiomatosis
- Staphylococcal necrotizing pneumonia
Sometimes5–29%
15- Achondroplasia
- Asbestos intoxication
- Congenital fiber-type disproportion myopathy
- Diffuse alveolar hemorrhage
- Ebstein malformation of the tricuspid valve
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Meconium aspiration syndrome
- Pancreatic agenesis-holoprosencephaly syndrome
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: Hypoxia
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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.