All terms in HP
| Label | Id | Description |
|---|---|---|
| Vulvodynia | HP_0030943 | [Pain in the vulvar area] |
| Congenital muscular torticollis | HP_0005988 | [A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.] |
| Axial muscle weakness | HP_0003327 | [Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).] |
| lumbar spinal cord white matter | UBERON_0026386 | |
| Biconcave flattened vertebrae | HP_0003321 | |
| Generalized muscle weakness | HP_0003324 | [Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.] |
| Elevated maternal serum alpha-fetoprotein | HP_0005984 | [An elevation of alpha-feto protein in the maternal serum.] |
| Elevated alpha-fetoprotein | HP_0006254 | [An increased concentration of alpha-fetoprotein.] |
| membrane lipid metabolic process | GO_0006643 | [The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane.] |
| Reduced phenylalanine hydroxylase activity | HP_0005982 | [A reduction in phenylalanine 4-monooxygenase activity.] |
| C1-C2 subluxation | HP_0003320 | [A partial dislocation of the atlantoaxial joints.] |
| C1-C2 vertebral abnormality | HP_0008440 | [Any abnormality of the atlas and the axis.] |
| Elevated gamma-glutamyltransferase activity | HP_0030948 | [Increased activity of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.] |
| Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes | HP_0003329 | |
| Reduced prothrombin consumption | HP_0003337 | [The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.] |
| Oral erythroplakia | HP_0030934 | [A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.] |
| Abnormality of intestinal smooth muscle morphology | HP_0030935 | [A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.] |
| Pyrimidine-responsive megaloblastic anemia | HP_0003339 | [A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.] |
| 1-minute APGAR score of 5 | HP_0030932 | |
| Ureteral atresia | HP_0005999 | [A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.] |