| HPO |
HP:0012223 |
Splenic rupture |
"A breach of the capsule of the spleen." [HPO:probinson] |
— |
HP:0025408 |
| HPO |
HP:0012224 |
Circulating immune complexes |
"Persistence of immune complexes in the blood circulation." [HPO:probinson] |
Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions. |
HP:0005368 |
| HPO |
HP:0012225 |
Oligodontia of primary teeth |
"Reduced number of primary teeth." [HPO:probinson] |
Primary teeth are also called temporary teeth or deciduous teeth. |
HP:0000677 |
| HPO |
HP:0012226 |
Ovarian teratoma |
"The presence of a teratoma in the ovary." [HPO:probinson] |
— |
HP:0009792, HP:0100615 |
| HPO |
HP:0012227 |
Urethral stricture |
"Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson] |
A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). |
HP:0008661 |
| HPO |
HP:0012228 |
Tension-type headache |
"A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs." [HPO:probinson] |
— |
HP:0002315 |
| HPO |
HP:0012229 |
CSF pleocytosis |
"An increased white blood cell count in the cerebrospinal fluid." [HPO:probinson] |
— |
HP:0002921 |
| HPO |
HP:0012230 |
Rhegmatogenous retinal detachment |
"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] |
— |
HP:0000541 |
| HPO |
HP:0012231 |
Exudative retinal detachment |
"A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." [HPO:probinson, ORCID:0000-0003-0986-4123] |
— |
HP:0000541 |
| HPO |
HP:0012232 |
Shortened QT interval |
"Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] |
— |
HP:0031547 |
| HPO |
HP:0012233 |
Intramuscular hematoma |
"Blood clot formed within muscle tissue following leakage of blood into the tissue." [HPO:probinson] |
— |
HP:0011805 |
| HPO |
HP:0012234 |
Agranulocytosis |
"Marked decrease in the number of granulocytes." [HPO:probinson] |
Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. |
HP:0001913 |
| HPO |
HP:0012235 |
Drug-induced agranulocytosis |
"A type of agranulocytosis related to ingestion of a specific medication." [HPO:probinson] |
— |
HP:0012234 |
| HPO |
HP:0012236 |
Elevated sweat chloride |
"An increased concentration of chloride in the sweat." [HPO:probinson] |
Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases. |
HP:0040127 |
| HPO |
HP:0012237 |
Urocanic aciduria |
"An increased concentration of urocanic acid in the urine." [HPO:probinson] |
— |
HP:0040156 |
| HPO |
HP:0012238 |
Increased circulating chylomicron concentration |
"Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [HPO:probinson, MP:0009699] |
— |
HP:0010980, HP:0031887 |
| HPO |
HP:0012239 |
Atransferrinemia |
"Absence of transferrin, a protein that transports iron, in the blood." [HPO:probinson] |
— |
HP:0032385 |
| HPO |
HP:0012240 |
Increased intramyocellular lipid droplets |
"An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images." [HPO:probinson, PMID:20691590] |
In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres. |
HP:0009058 |
| HPO |
HP:0012241 |
Levator palpebrae superioris atrophy |
"Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid." [HPO:probinson] |
— |
HP:3000072 |
| HPO |
HP:0012242 |
Superior rectus atrophy |
"Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe." [HPO:probinson] |
— |
HP:0008049 |
| HPO |
HP:0012243 |
Abnormal reproductive system morphology |
"A structural or developmental anomaly of any of the tissues involved in the genital system." [HPO:probinson, MP:0002160] |
— |
HP:0000078 |
| HPO |
HP:0012244 |
Abnormal sex determination |
"Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] |
— |
HP:0012243 |
| HPO |
HP:0012245 |
Sex reversal |
"Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] |
Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female. |
HP:0012244 |
| HPO |
HP:0012246 |
Oculomotor nerve palsy |
"Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson] |
— |
HP:0000597, HP:0006824 |
| HPO |
HP:0012247 |
Specific anosmia |
"Anosmia for one particular odor." [HPO:probinson] |
— |
HP:0000458 |