All terms in HP
| Label | Id | Description |
|---|---|---|
| Decreased activity of mitochondrial respiratory chain | HP_0008972 | [Decreased activity of the mitochondrial respiratory chain.] |
| Decreased circulating copper concentration | HP_0011967 | [A reduced concentration of copper in the blood.] |
| Intermittent painful muscle spasms | HP_0011964 | [History of repeated intermittent involuntary muscle contractions that were painful.] |
| Spinal cord posterior columns myelin loss | HP_0008311 | |
| Elevated circulating luteinizing hormone level | HP_0011969 | [An elevated concentration of luteinizing hormone in the blood.] |
| Obstructive azoospermia | HP_0011962 | [Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.] |
| Pretesticular azoospermia | HP_0011963 | [Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.] |
| Substantia nigra gliosis | HP_0011960 | [Focal proliferation of glial cells in the substantia nigra.] |
| Non-obstructive azoospermia | HP_0011961 | [Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.] |
| Microscopic nephrocalcinosis | HP_0008327 | [The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.] |
| Reduced circulating vitamin B6 level | HP_0008326 | [An abnormally decreased concentration of vitamin B6 in the blood circulation.] |
| Elevated urinary homovanillic acid | HP_0011977 | [An increased concentration of homovanillic acid in the urine.] |
| Elevated urinary vanillylmandelic acid | HP_0011978 | [An increased concentration of vanillylmandelic acid in the urine.] |
| Aminoglycoside-induced hearing loss | HP_0011975 | [Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.] |
| Reduced factor X activity | HP_0008321 | [Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).] |
| Impaired collagen-induced platelet aggregation | HP_0008320 | [Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.] |
| Elevated urinary dopamine | HP_0011979 | [An increased concentration of dopamine in the urine.] |
| Cerebral amyloid angiopathy | HP_0011970 | [Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.] |
| Paroxysmal lethargy | HP_0011973 | [Repeated episodes of sudden-onset and transient lethargy.] |
| Myelofibrosis | HP_0011974 | [Replacement of bone marrow by fibrous tissue.] |