All terms in HP
Label | Id | Description |
---|---|---|
Bowing of the legs | HP_0002979 | [A bending or abnormal curvature affecting a long bone of the leg.] |
Rhabdomyosarcoma | HP_0002859 | |
Neoplasm of striated muscle | HP_0009728 | [A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.] |
Meningioma | HP_0002858 | [The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.] |
Pierre-Robin sequence | HP_0000201 | [Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.] |
Micrognathia | HP_0000347 | [Developmental hypoplasia of the mandible.] |
Cleft palate | HP_0000175 | [Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).] |
Glossoptosis | HP_0000162 | [Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.] |
Paraganglioma of head and neck | HP_0002864 | |
Paraganglioma | HP_0002668 | [A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.] |
Myelodysplasia | HP_0002863 | [Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.] |
Hematological neoplasm | HP_0004377 | [Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).] |
Oral cleft | HP_0000202 | [The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.] |
Hypoplastic iliac wing | HP_0002866 | [Underdevelopment of the ilium ala.] |
Abnormality of the wing of the ilium | HP_0011867 | [An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.] |
carbocyclic compound | CHEBI_33598 | [A homocyclic compound in which all of the ring members are carbon atoms.] |
organic cyclic compound | CHEBI_33832 | [Any organic molecule that consists of atoms connected in the form of a ring.] |
homocyclic compound | CHEBI_33597 | [A cyclic compound having as ring members atoms of the same element only.] |
Medullary thyroid carcinoma | HP_0002865 | [The presence of a medullary carcinoma of the thyroid gland.] |
Thyroid carcinoma | HP_0002890 | [The presence of a carcinoma of the thyroid gland.] |