Rare diseases · Sign or symptom
Gastroesophageal reflux
Acid reflux
HP:0002020
What it means
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this209
Very common80–99%
23- 16p11.2p12.2microdeletion syndrome
- Adenocarcinoma of the oesophagus and oesophagogastric junction
- Axial mesodermal dysplasia spectrum
- Cornelia de Lange syndrome
- DDOST-CDG
- Dermatosparaxis Ehlers-Danlos syndrome
- Diffuse cutaneous systemic sclerosis
- Hereditary hyperekplexia
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Microgastria-limb reduction defect syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mixed connective tissue disease
- Periventricular nodular heterotopia
- Pitt-Hopkins syndrome
- Progeria-short stature-pigmented nevi syndrome
- PRUNE1-related neurological syndrome
- Reynolds syndrome
- Sandifer syndrome
- Smith-Lemli-Opitz syndrome
- SSR4-CDG
- Sudden infant death-dysgenesis of the testes syndrome
- X-linked alpha-thalassemia-intellectual disability syndrome
- X-linked Ehlers-Danlos syndrome
Common30–79%
56- 17p11.2microduplication syndrome
- 1p36deletion syndrome
- 8q12microduplication syndrome
- Alobar holoprosencephaly
- Angelman syndrome
- Aromatic L-amino acid decarboxylase deficiency
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Bloom syndrome
- Canavan disease
- CDKL5-deficiency disorder
- CHARGE syndrome
- Christianson syndrome
- Classical Ehlers-Danlos syndrome
- Cockayne syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Congenital pulmonary lymphangiectasia
- Congenital sucrase-isomaltase deficiency
- Costello syndrome
- Craniofaciofrontodigital syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Emanuel syndrome
- FOXG1 syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- Fragile X syndrome
- GNB5-related intellectual disability-cardiac arrhythmia syndrome
- Haddad syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Helsmoortel-Van der Aa syndrome
- Hereditary folate malabsorption
- High-grade dysplasia in patients with Barrett esophagus
- Holoprosencephaly
- Idiopathic achalasia
- Idiopathic pulmonary fibrosis
- Infantile dystonia-parkinsonism
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Isotretinoin-like syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Limited cutaneous systemic sclerosis
- Lobar holoprosencephaly
- Maternal uniparental disomy of chromosome 1 syndrome
- MECP2-related severe neonatal encephalopathy
- Midline interhemispheric variant of holoprosencephaly
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple endocrine neoplasia type 1
- Native American myopathy
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Occipital horn syndrome
- Palmoplantar keratoderma-esophageal carcinoma syndrome
- Pontocerebellar hypoplasia type 2
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Schaaf-Yang syndrome
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: Acid reflux disease · Gastro-esophageal reflux · Gastro-oesophageal reflux · Gastroesophageal reflux disease · GERD · GORD · Heartburn
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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.