| HPO |
HP:0020146 |
Calcium carbonate crystalluria |
"The presence of calcium carbonate crystals in the urine." [PMID:26509782, PMID:8671802] |
Calcium carbonate crystals usually appear as clumped granules. |
HP:0020074 |
| HPO |
HP:0020147 |
2-Methylbutyryl glycinuria |
"Increased concentration of 2-methylbutyryl glycine in the urine." [PMID:17883863, UCDenver:tjcallahan] |
This phenotype can be related to a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine. |
HP:0033097 |
| HPO |
HP:0020148 |
Increased circulating mead acid level |
"An abnormally elevated concentration od mead acid in the blood circulation." [PMID:25440954] |
Elevated serum Mead acid as a proportion of total fatty acids is an indirect marker of a deficiency of essential fatty acids. |
HP:0003455 |
| HPO |
HP:0020149 |
Elevated circulating succinate |
"An increase concentration of succinate in the blood circulation." [PMID:29434314] |
— |
HP:0010995 |
| HPO |
HP:0020150 |
Elevated urinary uromodulin |
"An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine." [PMID:28781372] |
Uromodulin (also known as Tamm Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. Levels of uromodulin in the urine and in the blood, where it is present in lower amounts, are valuable biomarkers for tubular mass and renal function. |
HP:0020129 |
| HPO |
HP:0020151 |
Anti-dsDNA antibody positivity |
"The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA." [PMID:15804704] |
Anti-DNA antibodies can be observed in persons with systemic lupus erythematosus (SLE), being a formal classification criterion. |
HP:0003493 |
| HPO |
HP:0020152 |
Distal joint laxity |
"Lack of stability of a distal joint (e.g., finger)." [] |
— |
HP:0001388 |
| HPO |
HP:0020153 |
Positive blood 1,3 beta glucan test |
"Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis." [PMID:27475024] |
— |
HP:0410172 |
| HPO |
HP:0020154 |
Nevus comedonicus |
"A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones." [PMID:23888253] |
Nevus comedonicus has a predilection for the face and neck area. Nevus comedonicus presents with grouped, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material. Their appearance resembles black dots but the material cannot be easily removed mechanically in contrast to acne comedones. Nevus comedonicus lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. |
HP:0010816 |
| HPO |
HP:0020155 |
Abnormal oocyte morphology |
"An abnormal structure of the female germ cell (egg cell)." [] |
— |
HP:0025461 |
| HPO |
HP:0020156 |
Abnormal zona pellucida morphology |
"Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida." [PMID:26329136] |
During mammalian fertilization, sperm need to reach the cumulus-oocyte complex, get through the hyaluronic matrix of the cumulus and penetrate the zona pellucida (ZP) in order to fuse with the egg. |
HP:0020155 |
| HPO |
HP:0020157 |
Thin zona pellucida |
"Reduced thickness of the zona pellucida." [PMID:7657763] |
— |
HP:0020156 |
| HPO |
HP:0020158 |
Increased circulating adrenic acid concentration |
"An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation." [PMID:28456640, UCDenver:tjcallahan] |
— |
HP:0004359 |
| HPO |
HP:0020159 |
Reduced response to gonadotropin-releasing hormone stimulation test |
"Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels." [PMID:22723321] |
— |
HP:0031279 |
| HPO |
HP:0020160 |
GM1-ganglioside accumulation |
"Cellular accumulation of GM1 gangliosides." [PMID:9063740] |
At the neuropathological level, severe infantile GM1-gangliosidosis patients exhibit distended neurons that contain typical lamellar inclusions referred to as membranous cytoplasmic bodies which are also found in other lipidoses. Although neurons are the primary target for storage, astrocytes may also appear abnormally vacuolated. Neuronal pathology in late onset forms is delayed and tends to be more severe in deeper structures of the brain than in the cortex. Inclusions in the liver are of fibrillar nature and are different from the lamellar bodies in neurons. Abnormal accumulation of GM1-ganglioside and, to a much lesser extent, its asialo-derivative GA1, in the brain is the most prominent biochemical feature. |
HP:0004345 |
| HPO |
HP:0020161 |
Branch retinal artery occlusion |
"Blockage of a branch of the retinal artery. This can cause loss of a section of visual field." [PMID:19376586, UManchester:psergouniotis] |
— |
HP:0025326 |
| HPO |
HP:0020163 |
Cilioretinal artery occlusion |
"Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers." [PMID:28058169, UManchester:psergouniotis] |
— |
HP:0025326 |
| HPO |
HP:0020164 |
Ophthalmic artery occlusion |
"A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs." [PMID:30148234, UManchester:psergouniotis] |
— |
HP:0025326 |
| HPO |
HP:0020165 |
Branch retinal vein occlusion |
"Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels." [PMID:30570991, UManchester:psergouniotis] |
— |
HP:0012636 |
| HPO |
HP:0020166 |
Central retinal vein occlusion |
"Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis." [PMID:30252241] |
— |
HP:0012636 |
| HPO |
HP:0020167 |
Hemiretinal vein occlusion |
"A variant of central retinal vein occlusions that involves the superior or inferior half of the retina." [PMID:22069354, UManchester:psergouniotis] |
— |
HP:0012636 |
| HPO |
HP:0020169 |
Abnormal drug response |
"An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy." [ORCID:0000-0002-7440-8864, PMID:16948615] |
— |
HP:0001939 |
| HPO |
HP:0020170 |
Increased blood drug concentration |
"High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime." [ORCID:0000-0002-7440-8864, PMID:26075072] |
— |
HP:0020169 |
| HPO |
HP:0020171 |
Decreased blood drug concentration |
"Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime." [ORCID:0000-0002-7440-8864, PMID:26075072] |
— |
HP:0020169 |
| HPO |
HP:0020172 |
Adverse drug response |
"An unpleasant or harmful reaction resulting from treatment with a drug." [ORCID:0000-0002-7440-8864, PMID:11072960] |
— |
HP:0020169 |