All terms in HP

Label Id Description
Abnormal sarcomere morphology HP_0020201 [Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.]
obsolete Macrogyria HP_0007227
Abnormal Z disk morphology HP_0020202 [Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.]
Monocular strabismus HP_0010877 [A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.]
Fetal methimazole exposure HP_0034844 [A history of exposure during pregnancy of the mother of a fetus or child to methimazole.]
Fetal exposure history HP_0034756 [A history of exposure during pregnancy of the mother of a fetus or child to a medication or other substance.]
Fetal procarbazine exposure HP_0034845 [A history of exposure during pregnancy of the mother of a fetus or child to procarbazine.]
Fetal cystic hygroma HP_0010878 [The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.]
Fetal fluorouracil exposure HP_0034846 [A history of exposure during pregnancy of the mother of a fetus or child to fluorouracil.]
Chaddock reflex HP_0010875 [A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.]
Abnormal pyramidal sign HP_0007256 [Functional neurological abnormalities related to dysfunction of the pyramidal tract.]
Abnormal circulating metabolite concentration HP_0032180 [An abnormal level of an analyte measured in the blood.]
Fetal cytarabine exposure HP_0034847 [A history of exposure during pregnancy of the mother of a fetus or child to cytarabine.]
folate(2-) CHEBI_62501 [The dicarboxylic acid dianion formed from folic acid by loss of a proton from each of the two carboxy groups in the glutamic acid moiety.]
Fetal tetracycline exposure HP_0034848 [A history of exposure during pregnancy of the mother of a fetus or child to tetracycline.]
Progressive truncal ataxia HP_0007221
Truncal ataxia HP_0002078 [Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.]
Fetal quinine exposure HP_0034849 [A history of exposure during pregnancy of the mother of a fetus or child to quinine.]
Demyelinating motor neuropathy HP_0007220 [Demyelination of peripheral motor nerves.]
Demyelinating peripheral neuropathy HP_0007108 [Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.]