All terms in HP
| Label | Id | Description |
|---|---|---|
| Recurrent joint dislocation | HP_0031869 | [Dislocation of a given joint repeated times.] |
| Abnormality of chorioretinal pigmentation | HP_0007661 | |
| EC 3.* (hydrolase) inhibitor | CHEBI_76759 | [Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*).] |
| EC 3.2.* (glycosylase) inhibitor | CHEBI_76761 | [A hydrolase inhibitor that interferes with the action of any glycosylase (EC 3.2.*.*).] |
| Diaphyseal thickening | HP_0005019 | |
| EC 3.1.* (ester hydrolase) inhibitor | CHEBI_76760 | [A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*).] |
| Polyarticular chondrocalcinosis | HP_0005017 | |
| Lacrimal duct stenosis | HP_0007678 | [Narrowing of a tear duct (lacrimal duct).] |
| EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor | CHEBI_76764 | [Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*).] |
| Vitelliform-like macular lesions | HP_0007677 | [Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.] |
| Dysplastic distal radial epiphyses | HP_0005013 | [Abnormally developed (dysplastic) distal epiphysis of the radius.] |
| Progressive night blindness | HP_0007675 | |
| Mesomelic arm shortening | HP_0005011 | [Shortening of the middle parts of the arm in relation to the upper and terminal segments.] |
| Osteomyelitis leading to amputation due to slow healing fractures | HP_0005010 | |
| regulation of translation at synapse, modulating synaptic transmission | GO_0099547 | [Any process that modulates synaptic transmission by regulating translation occurring at the synapse.] |
| formate | CHEBI_15740 | [A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects.] |
| formic acid | CHEBI_30751 | [The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects.] |
| EC 3.1.1.* (carboxylic ester hydrolase) inhibitor | CHEBI_76773 | [An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*).] |
| Nervous tissue neoplasm | HP_0030060 | [A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).] |
| Neuroectodermal neoplasm | HP_0030061 | [A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.] |