| HPO |
HP:0200008 |
Intestinal polyposis |
"The presence of multiple polyps in the intestine." [HPO:probinson] |
— |
HP:0005266 |
| HPO |
HP:0200011 |
Abnormal length of corpus callosum |
— |
— |
HP:0001273 |
| HPO |
HP:0200012 |
Short corpus callosum |
— |
— |
HP:0200011 |
| HPO |
HP:0200013 |
Neoplasm of fatty tissue |
"A tumor (abnormal growth of tissue) of adipose tissue." [HPO:sdoelken] |
— |
HP:0009124, HP:0011793 |
| HPO |
HP:0200015 |
Symmetric great toe depigmentation |
— |
— |
HP:0001000 |
| HPO |
HP:0200016 |
Acrokeratosis |
"Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet." [HPO:skoehler] |
— |
HP:0011368, HP:0200036 |
| HPO |
HP:0200017 |
Cerebral white matter agenesis |
"Congenital defect with failure of the development of the cerebral white matter." [HPO:probinson] |
— |
HP:0012429 |
| HPO |
HP:0200018 |
Protanomaly |
"A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green." [HPO:probinson] |
Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. |
HP:0000642, HP:0011519 |
| HPO |
HP:0200020 |
Corneal erosion |
"An erosion or abrasion of the cornea's outermost layer of epithelial cells." [HPO:sdoelken] |
— |
HP:0011495 |
| HPO |
HP:0200021 |
Down-sloping shoulders |
"Low set, steeply sloping shoulders." [HPO:probinson] |
— |
HP:0003043 |
| HPO |
HP:0200022 |
Choroid plexus papilloma |
"Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus." [HPO:skoehler] |
— |
HP:0007376, HP:0012740, HP:0100835 |
| HPO |
HP:0200023 |
Priapism |
"A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours." [HPO:skoehler] |
— |
HP:0100639 |
| HPO |
HP:0200024 |
Premature chromatid separation |
"The presence of premature sister chromatid segregation." [HPO:probinson] |
— |
HP:0002916 |
| HPO |
HP:0200025 |
Mandibular pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible." [] |
— |
HP:0000277, HP:0012531 |
| HPO |
HP:0200026 |
Ocular pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye." [] |
— |
HP:0012373, HP:0046506 |
| HPO |
HP:0200028 |
Pretibial myxedema |
"A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet." [HPO:skoehler] |
— |
HP:0011356 |
| HPO |
HP:0200029 |
Vasculitis in the skin |
— |
— |
HP:0002633, HP:0011276 |
| HPO |
HP:0200030 |
Punctate vasculitis skin lesions |
— |
— |
HP:0200029 |
| HPO |
HP:0200032 |
Kayser-Fleischer ring |
"Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea." [HPO:SKOEHLER] |
— |
HP:0007957 |
| HPO |
HP:0200034 |
Papule |
"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:skoehler] |
— |
HP:0011355 |
| HPO |
HP:0200035 |
Skin plaque |
"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter." [HPO:skoehler] |
— |
HP:0011355 |
| HPO |
HP:0200036 |
Skin nodule |
"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:skoehler] |
A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. |
HP:0011355 |
| HPO |
HP:0200037 |
Skin vesicle |
"A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
— |
HP:0011355 |
| HPO |
HP:0200039 |
Pustule |
"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:skoehler] |
— |
HP:0011123 |
| HPO |
HP:0200040 |
Epidermoid cyst |
"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts." [HPO:skoehler] |
A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermal cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. |
HP:0025245 |