| HPO |
HP:0012097 |
Intracranial dermoid cyst |
"A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands." [HPO:probinson, PMID:16714456] |
See Figure 9 in PMID:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death. |
HP:0010576 |
| HPO |
HP:0012098 |
Edema of the dorsum of feet |
"An abnormal accumulation of fluid beneath the skin on the back of the feet." [HPO:probinson] |
— |
HP:0010741 |
| HPO |
HP:0012099 |
Abnormality of circulating catecholamine level |
"An abnormal catecholamine concentration in the blood." [HPO:probinson] |
— |
HP:0003117 |
| HPO |
HP:0012100 |
Abnormal circulating creatinine concentration |
"An abnormal concentration of creatinine in the blood." [HPO:probinson] |
— |
HP:0004364 |
| HPO |
HP:0012101 |
Decreased serum creatinine |
"An abnormally reduced amount of creatinine in the blood." [HPO:probinson] |
— |
HP:0012100 |
| HPO |
HP:0012102 |
Abnormal mitochondrial number |
"A deviation from the normal number of mitochondria per cell." [HPO:probinson] |
— |
HP:0008322 |
| HPO |
HP:0012103 |
Abnormality of the mitochondrion |
"An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." [HPO:probinson] |
— |
HP:0011017 |
| HPO |
HP:0012104 |
Parietal cortical atrophy |
"Atrophy of the parietal cortex." [HPO:probinson] |
— |
HP:0002120 |
| HPO |
HP:0012105 |
Occipital cortical atrophy |
"Atrophy of the occipital cortex." [HPO:probinson] |
— |
HP:0002120 |
| HPO |
HP:0012106 |
Rhizomelic leg shortening |
"Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [HPO:probinson] |
— |
HP:0008905 |
| HPO |
HP:0012107 |
Increased fibular diameter |
"Increased width of the cross sectional diameter of the fibula." [HPO:probinson, MP:0008159] |
— |
HP:0002991, HP:0005622 |
| HPO |
HP:0012108 |
Open angle glaucoma |
"A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure," [HPO:probinson, PMID:11815354] |
Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. |
HP:0000501 |
| HPO |
HP:0012109 |
Angle closure glaucoma |
"A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact)." [HPO:probinson, PMID:11815354, UManchester:psergouniotis] |
Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. |
HP:0000501 |
| HPO |
HP:0012110 |
Hypoplasia of the pons |
"Underdevelopment of the pons." [HPO:probinson] |
— |
HP:0002977, HP:0007361 |
| HPO |
HP:0012111 |
Abnormality of circulating glucocorticoid level |
"An abnormality of the concentration of a glucocorticoid in the blood." [HPO:probinson] |
— |
HP:0003117 |
| HPO |
HP:0012112 |
Abnormal circulating corticosterone level |
"An abnormality of the concentration of corticosterone in the blood." [HPO:probinson] |
— |
HP:0012111 |
| HPO |
HP:0012113 |
Abnormal circulating creatine concentration |
"A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson] |
— |
HP:0032180 |
| HPO |
HP:0012114 |
Endometrial carcinoma |
"A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson, NCIT:C7558] |
— |
HP:0010784, HP:0030126 |
| HPO |
HP:0012115 |
Hepatitis |
"Inflammation of the liver." [HPO:probinson] |
— |
HP:0012649, HP:0410042 |
| HPO |
HP:0012116 |
Abnormal circulating albumin concentration |
"Deviation from normal concentration of albumin in the blood." [HPO:probinson] |
— |
HP:0010876 |
| HPO |
HP:0012117 |
Hyperalbuminemia |
"Elevation in the concentration of albumin in the blood." [HPO:probinson] |
— |
HP:0012116 |
| HPO |
HP:0012118 |
Laryngeal carcinoma |
"A carcinoma of the larynx." [HPO:probinson, NCIT:C4855] |
Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms. |
HP:0100605 |
| HPO |
HP:0012119 |
Methemoglobinemia |
"Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues." [HPO:probinson] |
— |
HP:0011902 |
| HPO |
HP:0012120 |
Methylmalonic aciduria |
"Increased concentration of methylmalonic acid in the urine." [HPO:probinson] |
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. |
HP:0003215 |
| HPO |
HP:0012121 |
Panuveitis |
"Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid." [HPO:probinson] |
— |
HP:0000554 |