All terms in HP

Label Id Description
phytosteroid CHEBI_26124
hydroxy steroid CHEBI_35350
L-glucitol CHEBI_28789 [The L-enantiomer of glucitol.]
glucitol CHEBI_30911
phytosterols CHEBI_26125 [Sterols similar to cholesterol which occur in plants and vary only in carbon side chains and/or presence or absence of a double bond.]
sterol CHEBI_15889 [Any 3-hydroxy steroid whose skeleton is closely related to cholestan-3-ol (additional carbon atoms may be present in the side chain).]
Anti-side-chain cleavage enzyme antibody positivity HP_0034055 [The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).]
Increased fecal calprotectin level HP_0034056 [An increased amount of calprotectin in the feces.]
Fetal anomaly HP_0034057 [Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.]
Abnormality of prenatal development or birth HP_0001197 [An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.]
oxacycle CHEBI_38104 [Any organic heterocyclic compound containing at least one ring oxygen atom.]
organooxygen compound CHEBI_36963 [An organochalcogen compound containing at least one carbon-oxygen bond.]
Elevated urinary prostaglandin E2 metabolite level HP_0034050 [An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.]
Hypoplastic anterior limbs of the internal capsule HP_0034051 [Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.]
Impaired toe-walking ability HP_0034052 [Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.]
Decreased acid ceramidase activity HP_0034053
Probst bundles HP_0034054 [Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.]
Abnormal corpus callosum morphology HP_0001273 [Abnormality of the corpus callosum.]
Anti-RuvBL1/2 antibody positivity HP_0034090 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.]
Anti-Ku antibody positivity HP_0034088 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku.]