All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal portal venous system morphology | HP_0031941 | [Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.] |
| Retinal calcification | HP_0007862 | [Deposition of calcium salts in the retina.] |
| integrin alpha-IIb (human) | PR_P08514 | [An integrin alpha-IIb that is encoded in the genome of human.] |
| ITGA2B (human) | gene_symbol_report | [A protein coding gene ITGA2B in human.] |
| transitional anatomical structure | UBERON_0016888 | [An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development.] |
| Absence of intrinsic factor | HP_0005219 | [Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.] |
| Duplication of internal organs | HP_0005217 | |
| Abnormality of abdomen morphology | HP_0001438 | [A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.] |
| Anoperineal fistula | HP_0005218 | [The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.] |
| Allergic conjunctivitis | HP_0007879 | [Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.] |
| Frequent Giardia lamblia infestation | HP_0005215 | [Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.] |
| Impaired mastication | HP_0005216 | [An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.] |
| obsolete Juvenile cortical cataract | HP_0007876 | |
| Pancreatic calcification | HP_0005213 | [The presence of abnormal calcium deposition lesions in the pancreas.] |
| Congenital blindness | HP_0007875 | [Blindness with onset at birth.] |
| Almond-shaped palpebral fissure | HP_0007874 | [A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.] |
| Midgut malrotation | HP_0005211 | |
| Anal mucosal leukoplakia | HP_0005212 | [Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.] |
| Abnormally prominent line of Schwalbe | HP_0007873 | |
| Choroidal hemangioma | HP_0007872 | [The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.] |