| HPO |
HP:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |
| HPO |
HP:0002514 |
Cerebral calcification |
"The presence of calcium deposition within brain structures." [HPO:probinson] |
This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. |
HP:0002060, HP:0010766 |
| HPO |
HP:0002024 |
Malabsorption |
"Impaired ability to absorb one or more nutrients from the intestine." [HPO:probinson] |
— |
HP:0002242 |
| HPO |
HP:0000499 |
Abnormal eyelash morphology |
"An abnormality of the eyelashes." [HPO:probinson] |
— |
HP:0000492, HP:0001595 |
| HPO |
HP:0002665 |
Lymphoma |
"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:probinson] |
— |
HP:0004377 |
| HPO |
HP:0000327 |
Hypoplasia of the maxilla |
"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [HPO:probinson] |
— |
HP:0000326 |
| HPO |
HP:0005374 |
Cellular immunodeficiency |
"An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity." [http://www.dictionary.com/browse/cellular-immunodeficiency] |
— |
HP:0002721 |
| HPO |
HP:0008661 |
Urethral stenosis |
"Abnormal narrowing of the urethra." [HPO:probinson] |
— |
HP:0000796 |
| HPO |
HP:0001511 |
Intrauterine growth retardation |
"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] |
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. |
HP:0001510 |
| HPO |
HP:0002575 |
Tracheoesophageal fistula |
"An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] |
— |
HP:0002031, HP:0002778 |
| HPO |
HP:0001399 |
Hepatic failure |
— |
— |
HP:0001410 |
| HPO |
HP:0200042 |
Skin ulcer |
"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:skoehler] |
— |
HP:0011355 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0004322 |
Short stature |
"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0000670 |
Carious teeth |
"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [HPO:probinson] |
It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. |
HP:0011061 |
| HPO |
HP:0001874 |
Abnormality of neutrophils |
"A neutrophil abnormality." [HPO:probinson, PMID:21094463, PMID:26819959] |
Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. |
HP:0001911 |
| HPO |
HP:0000679 |
Taurodontia |
"Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots." [HPO:ibailleulforestier, PMID:31468724] |
Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged. |
HP:0006479, HP:0006486, HP:0011071 |
| HPO |
HP:0001394 |
Cirrhosis |
"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [HPO:probinson] |
Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. |
HP:0410042 |
| HPO |
HP:0000939 |
Osteoporosis |
"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453] |
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. |
HP:0004349 |
| HPO |
HP:0100627 |
Displacement of the urethral meatus |
"A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken] |
Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect). |
HP:0000795, HP:0032076 |
| HPO |
HP:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| HPO |
HP:0010885 |
Avascular necrosis |
"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] |
The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. |
HP:0011843 |
| HPO |
HP:0001034 |
Hypermelanotic macule |
"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [DDD:cmoss] |
— |
HP:0007400, HP:0012733 |
| HPO |
HP:0000518 |
Cataract |
"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] |
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). |
HP:0000517 |
| HPO |
HP:0001231 |
Abnormal fingernail morphology |
"An abnormality of the fingernails." [HPO:probinson] |
— |
HP:0001597 |