| HPO |
HP:0002247 |
Duodenal atresia |
"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:probinson] |
— |
HP:0002246, HP:0011100 |
| HPO |
HP:0002248 |
Hematemesis |
"The vomiting of blood." [HPO:probinson] |
The source of hematemesis is generally the upper gastrointestinal tract. |
HP:0002239 |
| HPO |
HP:0002249 |
Melena |
"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [HPO:probinson] |
— |
HP:0002239, HP:0025085 |
| HPO |
HP:0002250 |
Abnormal large intestine morphology |
"Any abnormality of the large intestine." [HPO:probinson] |
The large intestine comprises the cecum and colon. |
HP:0002242 |
| HPO |
HP:0002251 |
Aganglionic megacolon |
"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:probinson, PMID:17965226] |
Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. |
HP:0004362 |
| HPO |
HP:0002253 |
Colonic diverticula |
"The presence of multiple diverticula of the colon." [HPO:probinson] |
— |
HP:0002250, HP:0005222 |
| HPO |
HP:0002254 |
Intermittent diarrhea |
"Repeated episodes of diarrhea separated by periods without diarrhea." [] |
— |
HP:0002014 |
| HPO |
HP:0002256 |
Small bowel diverticula |
— |
— |
HP:0002244, HP:0005222 |
| HPO |
HP:0002257 |
Chronic rhinitis |
"Chronic inflammation of the nasal mucosa." [HPO:probinson] |
— |
HP:0012384 |
| HPO |
HP:0002263 |
Exaggerated cupid's bow |
"More pronounced paramedian peaks and median notch of the Cupid's bow." [PMID:19125428] |
This may be associated with a Deep philtrum, but that finding should be coded separately. |
HP:0011339 |
| HPO |
HP:0002265 |
Large fleshy ears |
— |
— |
HP:0000400 |
| HPO |
HP:0002266 |
Focal clonic seizure |
"A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive." [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] |
The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). |
HP:0011153, HP:0020221 |
| HPO |
HP:0002267 |
Exaggerated startle response |
"An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators] |
— |
HP:0002071 |
| HPO |
HP:0002268 |
Paroxysmal dystonia |
"A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [HPO:probinson] |
— |
HP:0001332 |
| HPO |
HP:0002269 |
Abnormality of neuronal migration |
"An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [HPO:probinson] |
— |
HP:0002011 |
| HPO |
HP:0002270 |
Abnormality of the autonomic nervous system |
"An abnormality of the autonomic nervous system." [HPO:probinson] |
The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. |
HP:0410008 |
| HPO |
HP:0002271 |
obsolete Autonomic dysregulation |
— |
— |
— |
| HPO |
HP:0002273 |
Tetraparesis |
"Weakness of all four limbs." [HPO:probinson] |
Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. |
HP:0030182 |
| HPO |
HP:0002275 |
Poor motor coordination |
— |
— |
HP:0011443 |
| HPO |
HP:0002277 |
Horner syndrome |
"An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [HPO:probinson] |
Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. |
HP:0000508, HP:0000616, HP:0012332 |
| HPO |
HP:0002280 |
Enlarged cisterna magna |
"Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [HPO:probinson] |
Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. |
HP:0005445 |
| HPO |
HP:0002281 |
obsolete Gray matter heterotopias |
— |
— |
— |
| HPO |
HP:0002282 |
Gray matter heterotopia |
"Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter." [COST:neuromig, ORCID:0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438] |
Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. |
HP:0002269 |
| HPO |
HP:0002283 |
Global brain atrophy |
"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." [HPO:sdoelken] |
Global brain atrophy can be visualized and quantified by magnetic resonance imaging. |
HP:0002977, HP:0012444 |
| HPO |
HP:0002286 |
Fair hair |
"A lesser degree of hair pigmentation than would otherwise be expected." [DDD:cmoss] |
For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. |
HP:0011358 |