All terms in HP
| Label | Id | Description |
|---|---|---|
| integrin alpha lacking A domain | PR_000025797 | [An integrin alpha that lacks an A domain. This type of integrin is often cleaved into heavy and light chains.] |
| Abnormal concentration of acylcarnitine in the urine | HP_0500170 | [An abnormal amount of acylcarnitine in the urine.] |
| Abnormal circulating gastrin level | HP_0500166 | [An abnormal concentration of gastrin in the blood.] |
| Hypergastrinemia | HP_0500167 | [An elevated amount of gastrin in the blood.] |
| Increased level of carnosine in blood | HP_0500161 | [An increased amount of carnosine in the blood.] |
| Decreased level of carnosine in blood | HP_0500162 | [A decreased amount of carnosine in bood.] |
| Hypoornithinemia | HP_0500163 | [An abnormal decrease in ornithine in the blood.] |
| protective agent | CHEBI_50267 | [Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent.] |
| obsolete Mildly reduced visual acuity | HP_0007739 | |
| Uncontrolled eye movements | HP_0007738 | |
| Bone spicule pigmentation of the retina | HP_0007737 | [Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).] |
| obsolete Pericentral retinal dystrophy | HP_0007736 | |
| proepicardium | UBERON_0004160 | [An embryonic group of progenitor cells that forms from an outpouching of the septum transversum near the venous pole of the heart and gives rise to the epicardium] |
| septum transversum | UBERON_0004161 | [A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG].] |
| Enlarged lacrimal glands | HP_0007734 | [Abnormally big lacrimal glands.] |
| Abnormal lacrimal gland morphology | HP_0011482 | [Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.] |
| Laterally curved eyebrow | HP_0007733 | |
| Lacrimal gland hypoplasia | HP_0007732 | [Underdevelopment of the lacrimal gland.] |
| Chorioretinal dysplasia | HP_0007731 | [Abnormal development of the choroid and retina.] |
| Retinal dysplasia | HP_0007973 | [The presence of developmental dysplasia of the retina.] |