| HPO |
HP:0012047 |
Hemeralopia |
"A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [HPO:probinson] |
— |
HP:0000504 |
| HPO |
HP:0012048 |
Oromandibular dystonia |
"A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson] |
— |
HP:0012179 |
| HPO |
HP:0012049 |
Laryngeal dystonia |
"A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson] |
— |
HP:0001618, HP:0004373 |
| HPO |
HP:0012050 |
Anasarca |
"An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space." [HPO:probinson] |
— |
HP:0007430 |
| HPO |
HP:0012051 |
Reactive hypoglycemia |
"Hypoglycermia following a meal (or more generally, after intake of glucose)." [HPO:probinson] |
Reactive hypoglycemia may be the result of an exaggerated insulin response. |
HP:0001943 |
| HPO |
HP:0012052 |
Low serum calcitriol |
"A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [HPO:probinson] |
— |
HP:0100511 |
| HPO |
HP:0012053 |
Decreased circulating calcifediol concentration |
"A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3." [HPO:probinson] |
— |
HP:0100511 |
| HPO |
HP:0012054 |
Choroidal melanoma |
"Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [HPO:probinson, PMID:22557869] |
— |
HP:0007716 |
| HPO |
HP:0012055 |
Ciliary body melanoma |
"Malignant tumor of melanocytes of the ciliary body." [HPO:probinson] |
— |
HP:0007716, HP:0012776 |
| HPO |
HP:0012056 |
Cutaneous melanoma |
"The presence of a melanoma of the skin." [HPO:probinson] |
The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma. |
HP:0002861, HP:0008069 |
| HPO |
HP:0012057 |
Superficial spreading melanoma |
"A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown." [HPO:probinson] |
— |
HP:0012056 |
| HPO |
HP:0012058 |
Nodular melanoma |
"A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color." [HPO:probinson] |
— |
HP:0012056 |
| HPO |
HP:0012059 |
Lentigo maligna melanoma |
"A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging." [HPO:7734995, HPO:probinson] |
— |
HP:0012056 |
| HPO |
HP:0012060 |
Acral lentiginous melanoma |
"A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [HPO:probinson] |
— |
HP:0012056 |
| HPO |
HP:0012061 |
Urinary excretion of sialylated oligosaccharides |
"Excretion of oligosaccharides conjugated to sialic acid in the urine." [HPO:probinson] |
— |
HP:0010471 |
| HPO |
HP:0012062 |
Bone cyst |
"A fluid filled cavity that develops with a bone." [HPO:probinson] |
Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture. |
HP:0003330 |
| HPO |
HP:0012063 |
Aneurysmal bone cyst |
"Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging." [HPO:probinson, PMID:22474093, PMID:7863874] |
— |
HP:0012062 |
| HPO |
HP:0012064 |
Unicameral bone cyst |
"A benign fluid filled simple cyst of bone filled with serous fluid." [HPO:probinson] |
— |
HP:0012062 |
| HPO |
HP:0012065 |
Multiple bony cystic lesions |
"Presence of multiple cystic changes in multiple areas or multiple bones." [HPO:probinson] |
— |
HP:0012062 |
| HPO |
HP:0012066 |
Increased urinary disaccharide excretion |
"Increased concentration of disaccharide in the urine." [HPO:probinson] |
Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine. |
HP:0010471 |
| HPO |
HP:0012067 |
Glycopeptiduria |
"Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." [HPO:probinson] |
This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. |
HP:0033354 |
| HPO |
HP:0012068 |
Aspartylglucosaminuria |
"Excretion of excess amounts of aspartylglucosamine in the urine." [HPO:probinson] |
— |
HP:0012067 |
| HPO |
HP:0012069 |
Keratan sulfate excretion in urine |
"An increased concentration of keratan sulfate in the urine." [HPO:probinson] |
Keratan sulfate is a a glycosaminoglycan. |
HP:0008155 |
| HPO |
HP:0012070 |
Chondroitin sulfate excretion in urine |
"An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine." [HPO:probinson] |
Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage. |
HP:0008155 |
| HPO |
HP:0012071 |
Abnormal circulating acetylcarnitine concentration |
"Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine." [HPO:probinson, PMID:18281923, PMID:23258903, PMID:6348429] |
Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases. |
HP:0010967 |