Terminology Service < Semantic Lookup Platform

All terms in HP

Label	Id	Description
Hyperammonemia	HP_0001987	[An increased concentration of ammonia in the blood.]
Fetal akinesia sequence	HP_0001989	[Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).]
Renal Fanconi syndrome	HP_0001994	[An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.]
Chronic metabolic acidosis	HP_0001996	[Longstanding metabolic acidosis.]
Gout	HP_0001997	[Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.]
Right unicoronal synostosis	HP_0011317	[Unicoronal synostosis affecting only the right coronal suture.]
Unicoronal synostosis	HP_0011315	[Synostosis affecting only one of the coronal sutures.]
Bicoronal synostosis	HP_0011318	[Synostosis affecting the right and the left coronal suture.]
Coronal craniosynostosis	HP_0004440	[Premature closure of the coronal suture of skull.]
Left unicoronal synostosis	HP_0011316	[Synostosis affecting only the left coronal suture.]
Bilambdoid synostosis	HP_0011319	[Premature synostosis of both lambdoid sutures.]
Lambdoidal craniosynostosis	HP_0004443	[A kind of craniosynostosis affecting the lambdoidal suture.]
Bridged palmar crease	HP_0011310	[A crease that connects the proximal and distal transverse palmar creases.]
carcinoembryonic antigen-related cell adhesion molecule 8, signal peptide removed form	PR_000018405	[A carcinoembryonic antigen-related cell adhesion molecule 8 that has had the signal peptide removed.]
Narrow nail	HP_0011313	[Decreased width of nail.]
Sydney crease	HP_0011311	[Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.]
Fused nails	HP_0011312	[A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.]
Neonatal hypoglycemia	HP_0001998
endoglin, signal peptide removed form	PR_000018420	[An endoglin that has had the signal peptide removed.]
Anterior plagiocephaly	HP_0011326	[Asymmetry of the anterior part of the skull.]