All terms in HP
| Label | Id | Description |
|---|---|---|
| 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 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 nuchal translucency | HP_0010880 | [The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).] |
| 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.] |
| 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.] |
| folic acid | CHEBI_27470 | [An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation.] |
| 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.] |
| 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.] |
| Motor polyneuropathy | HP_0007178 | |
| Postnatal cystic hygroma | HP_0010879 | |
| Broad distal phalanges of all fingers | HP_0009880 | [Abnormally wide (broad) distal phalanx of finger of all fingers.] |
| Absent distal phalanges | HP_0005807 | [Aplasia (absence) of the distal phalanges.] |
| Plasma/serum xenobiotic | HP_0500100 | [Presence of a xenobiotic in plasma and/or serum.] |
| Blood xenobiotic | HP_0410172 | [The presence of a xenobiotic in blood.] |
| Gastric fluid xenobiotic | HP_0500101 | [Presence of a xenobiotic in gastric fluid.] |
| Presence of xenobiotic | HP_0031838 | [Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.] |
| Tapered distal phalanges of finger | HP_0009884 | [A reduction in diameter of the distal phalanx of finger towards the distal end.] |