| HPO |
HP:0012072 |
Aciduria |
"Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration." [HPO:probinson] |
— |
HP:0032943 |
| HPO |
HP:0012073 |
Abnormal urinary acylglycine profile |
"An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution." [HPO:probinson, PMID:10870848] |
N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders. |
HP:0033097 |
| HPO |
HP:0012074 |
Tonic pupil |
"An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation." [HPO:probinson] |
— |
HP:0007686 |
| HPO |
HP:0012075 |
Personality disorder |
"An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder." [HPO:probinson] |
A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood. |
HP:0031466 |
| HPO |
HP:0012076 |
Borderline personality disorder |
"A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions." [HPO:probinson] |
— |
HP:0012075 |
| HPO |
HP:0012077 |
Histrionic personality disorder |
"A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention." [ICD-10:F60.4] |
— |
HP:0012075 |
| HPO |
HP:0012078 |
Motor conduction block |
"Blockade of impulses at a focal site along the course of a motor axon." [HPO:probinson] |
— |
HP:0000762, HP:0040131 |
| HPO |
HP:0012079 |
Abnormality of central motor conduction |
"Any anomaly of the conduction of motor nerve impulses in the central nervous system." [HPO:probinson, PMID:3572430] |
Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts. |
HP:0011442 |
| HPO |
HP:0012080 |
Cerebellar granular layer atrophy |
"Atrophy of the cerebellum affecting primarily the granular cell layer." [HPO:probinson] |
— |
HP:0001272 |
| HPO |
HP:0012081 |
Enlarged cerebellum |
"An abnormally increased size of the cerebellum compared to other brain structures." [HPO:probinson] |
— |
HP:0001317 |
| HPO |
HP:0012082 |
Cerebellar Purkinje layer atrophy |
"Atrophy of the cerebellum affecting primarily the Purkinje cell layer." [HPO:probinson] |
— |
HP:0001272 |
| HPO |
HP:0012083 |
Ubiquitin-positive cerebral inclusion bodies |
"Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain." [HPO:probinson] |
— |
HP:0100314 |
| HPO |
HP:0012084 |
Abnormality of skeletal muscle fiber size |
"Any abnormality of the size of the skeletal muscle cell." [HPO:probinson] |
— |
HP:0004303 |
| HPO |
HP:0012085 |
Pyuria |
"The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase." [HPO:probinson, PMID:25760357] |
— |
HP:0012614 |
| HPO |
HP:0012086 |
Abnormal urinary color |
"An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson] |
— |
HP:0033072 |
| HPO |
HP:0012087 |
Abnormal mitochondrial shape |
"An anomaly in the surface contour of mitochondria." [HPO:probinson, MP:0011633] |
— |
HP:0008322 |
| HPO |
HP:0012088 |
Abnormal urinary odor |
"A deviation from the normal odor of the urine." [HPO:probinson] |
Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. |
HP:0033072 |
| HPO |
HP:0012089 |
Arteritis |
"Arterial inflammation." [HPO:probinson] |
— |
HP:0011004 |
| HPO |
HP:0012090 |
Abnormal pancreas morphology |
— |
— |
HP:0001732 |
| HPO |
HP:0012091 |
Abnormality of pancreas physiology |
"An anomaly of the function of the pancreas." [HPO:probinson] |
— |
HP:0001732 |
| HPO |
HP:0012092 |
Abnormality of exocrine pancreas physiology |
"A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [HPO:probinson] |
— |
HP:0012091 |
| HPO |
HP:0012093 |
Abnormality of endocrine pancreas physiology |
"A function abnormality of the endocrine pancreas." [HPO:probinson] |
— |
HP:0000818, HP:0012091 |
| HPO |
HP:0012094 |
Abnormal pancreas size |
"A deviation from the normal size of the pancreas." [HPO:probinson] |
— |
HP:0012090 |
| HPO |
HP:0012095 |
Multiple joint dislocation |
"Dislocation of many joints." [HPO:probinson] |
— |
HP:0001373 |
| HPO |
HP:0012096 |
Intracranial epidermoid cyst |
"A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development." [HPO:probinson, PMID:16714456] |
See Figure 8 in PMID:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages. |
HP:0010576 |