| HPO |
HP:0012774 |
Increased upper to lower segment ratio |
"Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] |
— |
HP:0012772 |
| HPO |
HP:0012775 |
Stellate iris |
"A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel." [CINEAS:asollie] |
— |
HP:0008034 |
| HPO |
HP:0012776 |
Abnormal ciliary body morphology |
"A structural anomaly of the ciliary body." [CINEAS:asollie] |
— |
HP:0000553 |
| HPO |
HP:0012777 |
Retinal neoplasm |
"A tumor (abnormal growth of tissue) of the retina." [CINEAS:asollie] |
— |
HP:0000479, HP:0100012 |
| HPO |
HP:0012778 |
Retinal astrocytic hamartoma |
"A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte." [PMID:20435268, PMID:23436975] |
Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation. |
HP:0009594 |
| HPO |
HP:0012779 |
Transient hearing impairment |
"Hearing loss that occurs acutely and resolves completely." [PMID:21776317] |
Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear. |
HP:0000365 |
| HPO |
HP:0012780 |
Neoplasm of the ear |
"A tumor (abnormal growth of tissue) of the ear." [HPO:probinson] |
— |
HP:0011793, HP:0031703 |
| HPO |
HP:0012781 |
Mid-frequency hearing loss |
"A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)." [HPO:probinson] |
— |
HP:0000365 |
| HPO |
HP:0012782 |
Perilobar nephrogenic rest |
"A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe." [HPO:probinson, PMID:20301471] |
Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. |
HP:0100880 |
| HPO |
HP:0012783 |
Intralobar nephrogenic rest |
"A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls." [HPO:probinson, PMID:20301471] |
Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). |
HP:0100880 |
| HPO |
HP:0012784 |
Perinephritis |
"Inflammation of the connective and adipose tissues surrounding the kidney." [HPO:probinson] |
— |
HP:0000123 |
| HPO |
HP:0012785 |
Flexion contracture of finger |
"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson] |
Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general. |
HP:0009473, HP:0030044 |
| HPO |
HP:0012786 |
Recurrent cystitis |
"Repeated infections of the urinary bladder." [HPO:probinson, PMID:20639019] |
One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. |
HP:0000010 |
| HPO |
HP:0012787 |
Recurrent pyelonephritis |
"Repeated episodes of pyelonephritis." [HPO:probinson] |
— |
HP:0000010, HP:0012330 |
| HPO |
HP:0012788 |
Reticulate pigmentation of oral mucosa |
"A net-like pattern of increased pigmentation of the oral cavity." [HPO:probinson] |
— |
HP:0100669 |
| HPO |
HP:0012789 |
Hypoplasia of the calcaneus |
"Underdevelopment of the heel bone." [HPO:probinson] |
— |
HP:0008363, HP:0008364 |
| HPO |
HP:0012790 |
Abnormal intramembranous ossification |
"An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed." [HPO:probinson] |
— |
HP:0011849 |
| HPO |
HP:0012791 |
Abnormal humeral ossification |
"An anomaly of the process of formation of bone in the humerus." [HPO:probinson] |
— |
HP:0003063, HP:0003336 |
| HPO |
HP:0012792 |
Absent ossification of thoracic vertebral bodies |
"A lack of bone mineralization of one or more body of thoracic vertebra." [HPO:probinson] |
— |
HP:0004599 |
| HPO |
HP:0012793 |
Kinked brainstem |
"A kinked appearance of the brainstem, i.e., an exaggerated flexure." [HPO:probinson, PMID:16301726] |
Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging. |
HP:0002363 |
| HPO |
HP:0012794 |
Periventricular white matter hypodensities |
"Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [HPO:probinson, PMID:16239634] |
See also defintion for "Deep white matter hypodensities". These two entities are in contra-distinction to each other. |
HP:0007103 |
| HPO |
HP:0012795 |
Abnormality of the optic disc |
"A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] |
The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. |
HP:0000587 |
| HPO |
HP:0012796 |
Increased cup-to-disc ratio |
"An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells." [HPO:probinson, PMID:23557744] |
A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. |
HP:0012795 |
| HPO |
HP:0012797 |
Lymphatic vessel neoplasm |
"A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723] |
— |
HP:0100742, HP:0100766 |
| HPO |
HP:0012798 |
Pulmonary lymphangiomyomatosis |
"Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls." [HPO:probinson] |
Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis. |
HP:0012797, HP:0100526 |