All terms in HP
| Label | Id | Description |
|---|---|---|
| Hyperketonemia | HP_0410175 | [An increase in the level of ketone bodies in the blood.] |
| endoderm of buccopharyngeal membrane | UBERON_0009480 | [An endoderm that is part of a buccopharyngeal membrane.] |
| Thyroid adenoma | HP_0000854 | [The presence of a adenoma of the thyroid gland.] |
| regulation of signaling receptor activity | GO_0010469 | [Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity.] |
| signaling receptor activity | GO_0038023 | [Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.] |
| Neonatal insulin-dependent diabetes mellitus | HP_0000857 | |
| Central diabetes insipidus | HP_0000863 | [A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.] |
| Diabetes insipidus | HP_0000873 | [A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).] |
| Abnormality of the posterior pituitary | HP_0011751 | [An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.] |
| epithelium of foregut-midgut junction | UBERON_0009497 | [An epithelium that is part of a foregut-midgut junction.] |
| Parathyroid hypoplasia | HP_0000860 | [Developmental hypoplasia of the parathyroid gland.] |
| Parathyroid dysgenesis | HP_0011768 | [Abnormal embryonic development of the parathyroid gland.] |
| von Willebrand factor | PR_000017364 | [A protein that is a translation product of the human VWF gene or a 1:1 ortholog thereof.] |
| Epilepsia partialis continua | HP_0012847 | [A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals.] |
| Status epilepticus | HP_0002133 | [Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures.] |
| Multiple trichilemmomata | HP_0012846 | [Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.] |
| Trichilemmoma | HP_0012844 | [A benign tumour originating from the outer root sheath of the hair follicle.] |
| Single trichilemmoma | HP_0012845 | [Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.] |
| Hair follicle neoplasm | HP_0012843 | [An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.] |
| Small intestinal bleeding | HP_0012849 | [Bleeding from the small intestine.] |