| HPO |
HP:0012022 |
Congenital portosystemic venous shunt |
"A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)." [HPO:probinson] |
— |
HP:0010948 |
| HPO |
HP:0012023 |
Galactosuria |
"Elevated concentration of galactose in the urine." [HPO:probinson] |
— |
HP:0031979 |
| HPO |
HP:0012024 |
Hypergalactosemia |
"Elevated concentration of galactose in the blood." [HPO:probinson] |
Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400). |
HP:0011013 |
| HPO |
HP:0012025 |
Abnormal circulating ornithine concentration |
"Deviation from the normal concentration of ornithine in the blood circulation." [HPO:probinson] |
Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs. |
HP:0033109 |
| HPO |
HP:0012026 |
Hyperornithinemia |
"Increased concentration of ornithine in the blood." [HPO:probinson] |
— |
HP:0012025 |
| HPO |
HP:0012027 |
Laryngeal edema |
"An abnormal accumulation of fluid and swelling in the tissues of the larynx." [HPO:probinson] |
— |
HP:0000969, HP:0025423 |
| HPO |
HP:0012028 |
Hepatocellular adenoma |
"A benign tumor of the liver of presumably epithelial origin." [HPO:probinson] |
— |
HP:0002896 |
| HPO |
HP:0012029 |
Abnormal urine hormone level |
"An abnormal concentration of a hormone in the urine." [HPO:probinson] |
— |
HP:0000818 |
| HPO |
HP:0012030 |
Increased urinary cortisol level |
"Abnormally increased concentration of cortisol in the urine." [HPO:probinson] |
— |
HP:0012029 |
| HPO |
HP:0012031 |
Lipomatous tumor |
— |
— |
HP:0200013 |
| HPO |
HP:0012032 |
Lipoma |
"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] |
— |
HP:0012031 |
| HPO |
HP:0012033 |
Sacral lipoma |
"Presence of a lipoma in the region of the sacrum." [HPO:probinson] |
— |
HP:0012032 |
| HPO |
HP:0012034 |
Liposarcoma |
"Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway." [MPATH:418] |
— |
HP:0012031 |
| HPO |
HP:0012035 |
Steatocystoma multiplex |
"Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)." [HPO:probinson, PMID:20631281] |
Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement. |
HP:0008069 |
| HPO |
HP:0012036 |
Sternocleidomastoid amyotrophy |
"Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head." [HPO:probinson] |
— |
HP:0003202 |
| HPO |
HP:0012037 |
Pectoralis amyotrophy |
"Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor." [HPO:probinson] |
— |
HP:0003202, HP:0011957 |
| HPO |
HP:0012038 |
Corneal guttata |
"Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [HPO:probinson, PMID:10611102, PMID:11222329] |
Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy. |
HP:0011490 |
| HPO |
HP:0012039 |
Descemet Membrane Folds |
"Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea." [HPO:probinson] |
— |
HP:0011490 |
| HPO |
HP:0012040 |
Corneal stromal edema |
"Abnormal accumulation of fluid and swelling of the stroma of cornea." [HPO:probinson] |
— |
HP:0000969, HP:0011492 |
| HPO |
HP:0012041 |
Decreased fertility in males |
— |
— |
HP:0000144 |
| HPO |
HP:0012042 |
Aspirin-induced asthma |
"A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction." [PMID:12743549] |
— |
HP:0002099 |
| HPO |
HP:0012043 |
Pendular nystagmus |
"Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] |
— |
HP:0000639 |
| HPO |
HP:0012044 |
Seesaw nystagmus |
"Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements." [HPO:probinson] |
Seesaw nystagmus can be a manifestation of lesions of the optic chiasma. |
HP:0012043 |
| HPO |
HP:0012045 |
Retinal flecks |
"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." [PMID:7952338] |
— |
HP:0030506 |
| HPO |
HP:0012046 |
Areflexia of upper limbs |
"Inability to elicit tendon reflexes in the upper limbs." [HPO:probinson] |
— |
HP:0001284, HP:0002817 |