| HPO |
HP:0012273 |
Increased carotid artery intimal medial thickness |
"An increase in the combined thickness of the intima and media of the carotid artery." [HPO:probinson, PMID:9878640] |
This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke. |
HP:0005344 |
| HPO |
HP:0012274 |
Autosomal dominant inheritance with paternal imprinting |
"A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing." [HPO:probinson, PMID:18678320] |
Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance. |
HP:0000006 |
| HPO |
HP:0012275 |
Autosomal dominant inheritance with maternal imprinting |
"A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing." [HPO:probinson] |
Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance. |
HP:0000006 |
| HPO |
HP:0012276 |
Digital flexor tenosynovitis |
"Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [HPO:probinson, PMID:16443118] |
Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. |
HP:0100261 |
| HPO |
HP:0012277 |
Hypoglycinemia |
"An abnormally reduced concentration of glycine in the blood." [HPO:probinson] |
— |
HP:0010895 |
| HPO |
HP:0012278 |
Abnormal circulating serine concentration |
"Any deviation from the normal concentration of serine in the blood circulation." [HPO:probinson] |
— |
HP:0010894 |
| HPO |
HP:0012279 |
Hyposerinemia |
"Reduced concentration of serine in the blood." [HPO:probinson] |
— |
HP:0012278 |
| HPO |
HP:0012280 |
Hepatic amyloidosis |
"A form of amyloidosis that affects the liver." [HPO:probinson] |
— |
HP:0011034, HP:0410042 |
| HPO |
HP:0012281 |
Chylous ascites |
"Extravasation of chyle into the peritoneal cavity." [HPO:probinson] |
— |
HP:0001541 |
| HPO |
HP:0012282 |
Morbilliform rash |
"An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days." [HPO:probinson] |
A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. |
HP:4000054 |
| HPO |
HP:0012283 |
Small distal femoral epiphysis |
"Reduced size of the Distal epiphysis of femur." [HPO:probinson] |
— |
HP:0010590 |
| HPO |
HP:0012284 |
Small proximal tibial epiphyses |
"Reduced size of the proximal epiphysis of the tibia." [HPO:probinson] |
— |
HP:0010585, HP:0010591 |
| HPO |
HP:0012285 |
Abnormal hypothalamus physiology |
"An abnormal functionality of the hypothalamus." [HPO:probinson] |
The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. |
HP:0000864, HP:0010662, HP:0012638 |
| HPO |
HP:0012286 |
Abnormal hypothalamus morphology |
"Any structural anomaly of the hypothalamus." [HPO:probinson] |
The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. |
HP:0010662 |
| HPO |
HP:0012287 |
Hypothalamic luteinizing hormone-releasing hormone deficiency |
"Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus." [HPO:probinson] |
— |
HP:0012285 |
| HPO |
HP:0012288 |
Neoplasm of head and neck |
"A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx." [HPO:probinson] |
— |
HP:0011793 |
| HPO |
HP:0012289 |
Facial neoplasm |
"A tumor (abnormal growth of tissue) of the face." [HPO:probinson] |
— |
HP:0012288 |
| HPO |
HP:0012290 |
Mouth neoplasm |
"A tumor (abnormal growth of tissue) of the mouth." [HPO:probinson] |
— |
HP:0012288 |
| HPO |
HP:0012291 |
obsolete Tracheal neoplasm |
— |
— |
— |
| HPO |
HP:0012292 |
Fusion of gums |
"A congenital defect with an abnormal joining of the gums of the upper and lower jaw." [HPO:probinson, PMID:19858676] |
— |
HP:0000168 |
| HPO |
HP:0012293 |
Abnormal genital pigmentation |
"An abnormal pigmentation pattern of the external genitalia." [HPO:probinson] |
— |
HP:0000811 |
| HPO |
HP:0012294 |
Abnormal occipital bone morphology |
"Abnormality of the occipital bone of the skull." [HPO:probinson] |
— |
HP:0000929 |
| HPO |
HP:0012295 |
Slender middle phalanx of finger |
"Reduced diameter of the middle phalanx of finger." [HPO:probinson] |
— |
HP:0009833 |
| HPO |
HP:0012296 |
Slender distal phalanx of finger |
"Reduced diameter of the distal phalanx of finger." [HPO:probinson] |
— |
HP:0009832 |
| HPO |
HP:0012297 |
Slender proximal phalanx of finger |
"Reduced diameter of the proximal phalanx of finger." [HPO:probinson] |
— |
HP:0009834 |