All terms in HP
| Label | Id | Description |
|---|---|---|
| cellular response to DNA damage stimulus | GO_0006974 | [Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.] |
| Anteriorly displaced genitalia | HP_0003252 | |
| Male infertility | HP_0003251 | |
| Motor impersistence | HP_0040200 | [The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.] |
| Aplasia/Hypoplasia of the vagina | HP_0011026 | [Aplasia or developmental hypoplasia of the vagina.] |
| Topoisomerase I antibody positivity | HP_0030859 | [The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.] |
| Decreased CSF neopterin level | HP_0040205 | [Decreased concentration of neopterin in the cerebrospinal fluid (CSF).] |
| Abnormal CSF neopterin level | HP_0040203 | [Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).] |
| Abnormal circulating neopterin concentration | HP_0040206 | [Any deviation from the normal concentration of neopterin in the blood circulation.] |
| Abnormal CSF biopterin level | HP_0040207 | [Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).] |
| Elevated CSF biopterin level | HP_0040208 | [Increased concentration of biopterin in the cerebrospinal fluid (CSF).] |
| Simultanapraxia | HP_0040201 | [A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.] |
| Elevated CSF neopterin level | HP_0040204 | [Increased concentration of neopterin in the cerebrospinal fluid (CSF).] |
| Decreased CSF biopterin level | HP_0040209 | [Decreased concentration of biopterin in the cerebrospinal fluid (CSF).] |
| phenol-containing compound metabolic process | GO_0018958 | [The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring.] |
| C3 nephritic factor positivity | HP_0030888 | [The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).] |
| Congenital shortened small intestine | HP_0030889 | [Substantially shortened length of the small intestine as a result of a developmental defect.] |
| Reduced orotidine 5-prime phosphate decarboxylase activity | HP_0003267 | [An abnormal decrease in orotidine 5'-phosphate decarboxylase activity.] |
| Increased lymphocyte apoptosis | HP_0030887 | [A elevation in the rate of apoptosis in lymphocytes.] |
| Gastrojejunal tube feeding in infancy | HP_0030884 | [Feeding problem necessitating gastrojejunal tube feeding.] |