|
obsolete Autosomal dominant somatic cell mutation
|
HP_0001444 |
|
|
Abnormality of the hip-girdle musculature
|
HP_0001445 |
|
|
Splenogonadal fusion
|
HP_0025410 |
[Joining of the spleen and a gonad during embryological development.] |
|
Metatarsal synostosis
|
HP_0001440 |
|
|
Bulbar urethral stricture
|
HP_0025415 |
[A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.] |
|
Vaginal stricture
|
HP_0025416 |
[A narrowing of the vagina owing to scar formation.] |
|
Typified by somatic mosaicism
|
HP_0001442 |
[Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic.] |
|
Fossa navicularis urethral stricture
|
HP_0025413 |
[A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.] |
|
Pendulous urethral stricture
|
HP_0025414 |
[A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.] |
|
Pulmonary pneumatocele
|
HP_0025419 |
[A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.] |
|
Patulous urethra
|
HP_0025417 |
[Urethra more open or expanded than normal.] |
|
Renal cortical necrosis
|
HP_0025418 |
[Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.] |
|
Nodular-random pattern on pulmonary HRCT
|
HP_0025400 |
[A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.] |
|
Staring gaze
|
HP_0025401 |
[An abnormality in which the eyes are held permanently wide open.] |
|
Abnormality of the upper arm
|
HP_0001454 |
|
|
Abnormal visual fixation
|
HP_0025404 |
[Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.] |
|
obsolete Autosomal dominant contiguous gene syndrome
|
HP_0001452 |
|
|
Visual fixation instability
|
HP_0025405 |
[A deficit in the ability to fixate eye movements in order to stabilize images on the retina] |
|
Square-wave jerks
|
HP_0025402 |
[Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.] |
|
Stooped posture
|
HP_0025403 |
[A habitual positioning of the body with the head and upper back bent forward.] |