| HPO |
HP:0012549 |
Conjunctival lipoma |
"A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva." [HPO:probinson] |
Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells. |
HP:0000502 |
| HPO |
HP:0012550 |
Colonic varices |
"The presence of varices (enlarged and convoluted blood vessels) in the colon." [HPO:probinson, PMID:16688816] |
Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension nd more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum. |
HP:0002250 |
| HPO |
HP:0012551 |
Absent neutrophil specific granules |
"Lack of specific granules in neutrophils." [HPO:probinson, PMID:6155073] |
Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums. |
HP:0011992 |
| HPO |
HP:0012552 |
Increased neutrophil nuclear projections |
"Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs." [HPO:probinson] |
— |
HP:0011992 |
| HPO |
HP:0012553 |
Hypoplastic thumbnail |
"A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail." [HPO:probinson] |
— |
HP:0001804 |
| HPO |
HP:0012554 |
Absent thumbnail |
"Absence of thumb nail." [HPO:probinson] |
— |
HP:0001817 |
| HPO |
HP:0012555 |
Absent nail of hallux |
"Absent nail of big toe." [HPO:probinson] |
— |
HP:0001802 |
| HPO |
HP:0012556 |
Hyperbeta-alaninemia |
"Increased concentration of beta-alanine in the blood." [HPO:probinson] |
— |
HP:0033109 |
| HPO |
HP:0012557 |
EEG with centrotemporal focal spike waves |
"EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:probinson] |
— |
HP:0011197, HP:0033721 |
| HPO |
HP:0012558 |
Abnormal T3/T4 ratio |
"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal." [HPO:probinson, PMID:16982586] |
— |
HP:0031508 |
| HPO |
HP:0012559 |
Increased T3/T4 ratio |
"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal." [HPO:probinson] |
— |
HP:0012558 |
| HPO |
HP:0012560 |
Decreased T3/T4 ratio |
"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal." [HPO:probinson] |
— |
HP:0012558 |
| HPO |
HP:0012561 |
Unicuspid aortic valve |
"The presence of an aortic valve with one instead of the normal three cusps (flaps)." [HPO:probinson, PMID:18480095, PMID:20329493] |
The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV. |
HP:0031567 |
| HPO |
HP:0012562 |
Premature epimetaphyseal fusion in hand |
"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] |
— |
HP:0010588 |
| HPO |
HP:0012563 |
Premature epimetaphyseal fusion in foot |
"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] |
— |
HP:0010588 |
| HPO |
HP:0012564 |
Premature epimetaphyseal fusion in tibia |
"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] |
— |
HP:0010588 |
| HPO |
HP:0012565 |
Premature epimetaphyseal fusion in fibula |
"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] |
— |
HP:0010588 |
| HPO |
HP:0012566 |
Premature epimetaphyseal fusion in radius |
"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] |
— |
HP:0010588 |
| HPO |
HP:0012567 |
Premature epimetaphyseal fusion in ulna |
"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] |
— |
HP:0010588 |
| HPO |
HP:0012568 |
Lower eyelid edema |
"Edema in the region of the Lower eyelid." [ORCID:0000-0001-5208-3432] |
— |
HP:0100540 |
| HPO |
HP:0012569 |
Delayed menarche |
"First period after the age of 15 years." [HPO:probinson] |
— |
HP:0000140, HP:0000823 |
| HPO |
HP:0012570 |
Synovial sarcoma |
"A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities." [HPO:probinson] |
Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. |
HP:0030448 |
| HPO |
HP:0012571 |
Ureter fissus |
"A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder." [Eurenomics:ewuehl] |
This anomaly is only seen in the presence of renal duplication. |
HP:0000073 |
| HPO |
HP:0012572 |
Ureter duplex |
"A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder." [Eurenomics:fschaefer] |
— |
HP:0000073 |
| HPO |
HP:0012573 |
Global proximal tubulopathy |
"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis." [HPO:probinson] |
— |
HP:0000114 |