MedicalVocabulary.org
Medical vocabulary with 16,436 clear, complete and reliable definitions.
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The most complete online medical dictionary: 16,436 terms covering anatomy, physiology, pathologies, diagnostic exams, pharmacology and every clinical specialty.
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Phenylalanine hydroxylase deficiency
The inherited inability to process the amino acid phenylalanine normally, due to deficiency of the enzyme phenylalanine hydroxylase. This deficiency is caused by mutation in the PAH gene (on chromosome 12 in band 12q23.2). Hundreds of…
Read the definitionRandom terms
Show more- Fungal Pertaining to a fungus. For example, a fungal skin infection
- David-Stickler syndrome See: Stickler syndrome
- Constrictive pericarditis Scarring of the pericardial sac. This limits the ability of the heart to function because it cannot expand…
- Node, sentinel lymph The first lymph node ('gland') to receive lymphatic drainage from a tumor. Which lymph node is the sentinel…
- Ventricular septal defect (VSD) Ventricular septal defect (VSD): A hole in the septum (the wall) between the lower chambers of the heart (the…
- Fibrillation, ventricular An abnormal irregular heart rhythm whereby there are very rapid uncoordinated fluttering contractions of the…
- Parkinsonism 1. Parkinson disease. 2. A syndrome similar to Parkinson disease, for example, as a side effect of an…
- Study, longitudinal A study done over the passage of time. For example, a longitudinal study of children with Down syndrome…
- Unwell Not well or in good health, ailing, sick, indisposed. For example, 'I am well-nigh choked with the sulfurous…
- Generalized tonic-clonic seizure See: Grand mal
- Collateral knee ligament, medial The knee joint is surrounded by a joint capsule with ligaments strapping the inside and outside of the joint…
- Mitral prolapse Drooping down or abnormal bulging of the mitral valve cusps during the contraction of the heart.