| HPO |
HP:0001996 |
Chronic metabolic acidosis |
"Longstanding metabolic acidosis." [HPO:probinson, PMID:15882309] |
Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. |
HP:0001942, HP:0012468 |
| HPO |
HP:0001997 |
Gout |
"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." [HPO:sdoelken] |
— |
HP:0001369 |
| HPO |
HP:0001998 |
Neonatal hypoglycemia |
— |
— |
HP:0001943 |
| HPO |
HP:0001999 |
Abnormal facial shape |
"An abnormal morphology (form) of the face or its components." [DDD:jclayton-smith] |
This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. |
HP:0000271 |
| HPO |
HP:0002000 |
Short columella |
"Reduced distance from the anterior border of the naris to the subnasale." [PMID:19152422] |
This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. |
HP:0009929 |
| HPO |
HP:0002002 |
Deep philtrum |
"Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [PMID:19152422] |
Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. |
HP:0000288 |
| HPO |
HP:0002003 |
Large forehead |
— |
— |
HP:0000290 |
| HPO |
HP:0002006 |
Facial cleft |
"A congenital malformation with a cleft (gap or opening) in the face." [HPO:probinson] |
The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. |
HP:0000271 |
| HPO |
HP:0002007 |
Frontal bossing |
"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436] |
This is not the same as prominent forehead. |
HP:0000290, HP:0011218 |
| HPO |
HP:0002009 |
Potter facies |
"A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [HPO:probinson] |
Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. |
HP:0011334 |
| HPO |
HP:0002010 |
Narrow maxilla |
— |
— |
HP:0000326 |
| HPO |
HP:0002011 |
Morphological central nervous system abnormality |
"A structural abnormality of the central nervous system." [HPO:probinson] |
— |
HP:0012639 |
| HPO |
HP:0002012 |
Abnormality of the abdominal organs |
"An abnormality of the viscera of the abdomen." [HPO:probinson] |
The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. |
HP:0025031 |
| HPO |
HP:0002013 |
Vomiting |
"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] |
— |
HP:0002017 |
| HPO |
HP:0002014 |
Diarrhea |
"Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson] |
— |
HP:0011458 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0002017 |
Nausea and vomiting |
"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea." [PMID:26770271] |
— |
HP:0011458 |
| HPO |
HP:0002018 |
Nausea |
"A sensation of unease in the stomach together with an urge to vomit." [HPO:probinson, PMID:26770271] |
— |
HP:0002017 |
| HPO |
HP:0002019 |
Constipation |
"Infrequent or difficult evacuation of feces." [HPO:probinson] |
— |
HP:0011458 |
| HPO |
HP:0002020 |
Gastroesophageal reflux |
"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] |
— |
HP:0025270 |
| HPO |
HP:0002021 |
Pyloric stenosis |
"An abnormal narrowing of the pylorus." [HPO:probinson] |
Pyloric stenosis occurs in the first few months of life. |
HP:0004400 |
| HPO |
HP:0002023 |
Anal atresia |
"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] |
— |
HP:0004378 |
| HPO |
HP:0002024 |
Malabsorption |
"Impaired ability to absorb one or more nutrients from the intestine." [HPO:probinson] |
— |
HP:0002242 |
| HPO |
HP:0002025 |
Anal stenosis |
"Abnormal narrowing of the anal opening." [HPO:probinson] |
— |
HP:0004378 |
| HPO |
HP:0002027 |
Abdominal pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [HPO:probinson] |
Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. |
HP:0011458, HP:0012531 |