| HPO |
HP:0011468 |
Facial tics |
"Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [DDD:cwright] |
— |
HP:0005324 |
| HPO |
HP:0011469 |
Nasal regurgitation |
"Regurgitation of milk through the nose." [DDD:ncarter] |
— |
HP:0008872 |
| HPO |
HP:0011470 |
Nasogastric tube feeding in infancy |
"Feeding problem necessitating nasogastric tube feeding." [DDD:ncarter] |
This is a severe form of feeding problems in infancy. |
HP:0008872, HP:0033454 |
| HPO |
HP:0011471 |
Gastrostomy tube feeding in infancy |
"Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] |
This is an extremely severe form of feeding problems in infancy. |
HP:0008872, HP:0033454 |
| HPO |
HP:0011472 |
Abnormality of small intestinal villus morphology |
— |
— |
HP:0002244 |
| HPO |
HP:0011473 |
Villous atrophy |
"The enteric villi are atrophic or absent." [HPO:probinson] |
— |
HP:0011472 |
| HPO |
HP:0011474 |
Childhood onset sensorineural hearing impairment |
"Sensorineural hearing impairment with childhood onset." [DDD:dfitzpatrick] |
— |
HP:0000407 |
| HPO |
HP:0011475 |
Persistent stapedial artery |
"Persistence of the stapedial artery, which normally regresses during embryonic life." [DDD:mbitner-glidicz] |
— |
HP:0008609 |
| HPO |
HP:0011476 |
Profound sensorineural hearing impairment |
"Complete loss of hearing related to a sensorineural defect." [DDD:dfitzpatrick] |
— |
HP:0000407, HP:0012715 |
| HPO |
HP:0011477 |
Upbeat nystagmus |
"In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient." [HPO:probinson, PMID:21505601] |
In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy. |
HP:0010544 |
| HPO |
HP:0011478 |
True anophthalmia |
"Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination." [DDD:ncarter] |
True anophthalmia implies an early failure of eye development. |
HP:0000528 |
| HPO |
HP:0011479 |
Abnormal lacrimal punctum morphology |
"An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid." [HPO:probinson] |
— |
HP:0000614 |
| HPO |
HP:0011480 |
Unilateral microphthalmos |
"A developmental anomaly characterized by abnormal smallness of one eye." [DDD:ncarter] |
— |
HP:0000568 |
| HPO |
HP:0011481 |
Abnormal lacrimal duct morphology |
"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." [HPO:probinson] |
— |
HP:0000614 |
| HPO |
HP:0011482 |
Abnormal lacrimal gland morphology |
"Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye." [HPO:probinson] |
— |
HP:0000614 |
| HPO |
HP:0011483 |
Anterior synechiae of the anterior chamber |
"Adhesions between the iris and the cornea." [DDD:ncarter] |
— |
HP:0007833 |
| HPO |
HP:0011484 |
Posterior synechiae of the anterior chamber |
"Adhesions between the iris and the lens." [DDD:ncarter] |
— |
HP:0007833 |
| HPO |
HP:0011485 |
Corneolenticular adhesion |
"Developmental abnormality in which the lens and cornea are not separated." [DDD:ncarter] |
— |
HP:0000593 |
| HPO |
HP:0011486 |
Abnormality of corneal thickness |
"An abnormal anteroposterior thickness of the cornea." [DDD:gblack] |
— |
HP:0000481 |
| HPO |
HP:0011487 |
Increased corneal thickness |
"A increased anteroposterior thickness of the cornea." [HPO:probinson] |
— |
HP:0011486 |
| HPO |
HP:0011488 |
Abnormal corneal endothelium morphology |
"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea." [DDD:gblack] |
— |
HP:0000481 |
| HPO |
HP:0011489 |
Abnormal migration of corneal endothelium |
"Abnormal migration of corneal endothelium." [DDD:ncarter] |
Can be seen in posterior polymorphous corneal dystrophy. |
HP:0011488 |
| HPO |
HP:0011490 |
Abnormal Descemet membrane morphology |
"Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium." [DDD:gblack] |
— |
HP:0011488 |
| HPO |
HP:0011491 |
Reduced number of corneal endothelial cells |
"A reduction in the number of corneal endothelial cells." [DDD:ncarter] |
— |
HP:0011488 |
| HPO |
HP:0011492 |
Abnormality of corneal stroma |
"An abnormality of the stroma of cornea, also known as the substantia propria of cornea." [DDD:ncarter, HPO:probinson] |
— |
HP:0000481 |