CUI1 stringlengths 8 8 | RELA stringlengths 3 54 | CUI2 stringlengths 8 8 | Name1 stringlengths 1 2.86k ⌀ | Name2 stringlengths 1 2.86k ⌀ | Def1 stringlengths 1 8.95k ⌀ | Def2 stringlengths 1 8.95k ⌀ |
|---|---|---|---|---|---|---|
C0000731 | has_manifestation | C5193142 | Abdomen distended | MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C0220685 | Abdomen distended | Achondrogenesis type 2 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in ... |
C0000731 | has_manifestation | C0265274 | Abdomen distended | Achondrogenesis, type IB (disorder) | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. |
C0000731 | has_manifestation | C0268186 | Abdomen distended | Congenital glucose-galactose malabsorption | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period. |
C0000731 | has_manifestation | C1865185 | Abdomen distended | Spondyloepimetaphyseal Dysplasia, Shohat Type | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Disease with characteristics of severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. The syndrome has been described in three members of a Jewish family of Iraqi origin an... |
C0000731 | has_manifestation | C2931142 | Abdomen distended | Qazi Markouizos syndrome | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | This syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has... |
C0000731 | has_manifestation | C3278664 | Abdomen distended | LIVER FAILURE, INFANTILE, TRANSIENT | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C3495427 | Abdomen distended | Fanconi-Bickel Syndrome | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Glycogen storage disease caused by mutation(s) in the SLC2A2 gene, encoding solute carrier family 2, facilitated glucose transporter member 2. It is characterized by marked proximal renal tubular dysfunction and hepatorenal glycogen accumulation. |
C0000731 | has_manifestation | C3836857 | Abdomen distended | MECKEL SYNDROME, TYPE 8 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5436579 | Abdomen distended | DEEAH SYNDROME | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5444223 | Abdomen distended | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5543513 | Abdomen distended | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5543519 | Abdomen distended | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5561944 | Abdomen distended | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5774219 | Abdomen distended | INTESTINAL DYSMOTILITY SYNDROME | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2077826 | Abdomen distended | intermittent abdominal swelling | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2126022 | Abdomen distended | factors relieving abdominal swelling | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2129188 | Abdomen distended | sudden onset of abdominal swelling | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2129189 | Abdomen distended | gradually progressive abdominal swelling | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2129191 | Abdomen distended | abdominal swelling interfering with breathing | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2219667 | Abdomen distended | abdominal swelling 20-30 minutes after a meal | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2219668 | Abdomen distended | abdominal swelling after milk or milk products | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C4479821 | Abdomen distended | epigastric swelling | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C4479822 | Abdomen distended | abdominal swelling right upper belly | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C4479823 | Abdomen distended | LUQ abdominal swelling | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C4479824 | Abdomen distended | abdominal swelling right lower belly | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C4479825 | Abdomen distended | abdominal swelling left lower belly | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C4479826 | Abdomen distended | abdominal swelling periumbilical | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C4479827 | Abdomen distended | abdominal swelling suprapubic | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | inverse_isa | C3650644 | Abdomen distended | abdominal signs and symptoms | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | same_as | C0424826 | Abdomen distended | Abdomen not distended | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2702521 | Abdomen distended | distention of left lower quadrant of abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2702522 | Abdomen distended | distention of left upper quadrant of abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2702523 | Abdomen distended | distention of right lower quadrant of abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2702524 | Abdomen distended | distention of right upper quadrant of abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C3838661 | Abdomen distended | abdominal distention epigastric | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | inverse_isa | C2230330 | Abdomen distended | abdominal shape | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | ssc | C0000737 | Abdomen distended | Abdominal Pain | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Sensation of discomfort, distress, or agony in the abdominal region. |
C0000731 | clinically_associated_with | C0346647 | Abdomen distended | Malignant neoplasm of pancreas | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. |
C0000731 | clinically_associated_with | C0741242 | Abdomen distended | ASCITES NEW ONSET | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | ssc | C0744271 | Abdomen distended | GAS FORMATION | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | inverse_isa | C0941288 | Abdomen distended | Abdomen problem | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | clinically_associated_with | C0000737 | Abdomen distended | Abdominal Pain | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Sensation of discomfort, distress, or agony in the abdominal region. |
C0000731 | clinically_associated_with | C0003962 | Abdomen distended | Ascites | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Accumulation or retention of free fluid within the peritoneal cavity. |
C0000731 | clinically_associated_with | C0019209 | Abdomen distended | Hepatomegaly | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Enlargement of the liver. |
C0000731 | clinically_associated_with | C0020538 | Abdomen distended | Hypertensive disease | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. |
C0000731 | clinically_associated_with | C0027498 | Abdomen distended | Nausea and vomiting | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Expelling the contents of the stomach and the sensations associated with it. They are symptoms of an underlying disease or condition and not a specific illness. |
C0000731 | clinically_associated_with | C0032227 | Abdomen distended | Pleural effusion (disorder) | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself. |
C0000731 | clinically_associated_with | C0262384 | Abdomen distended | Atypical chest pain | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | clinically_associated_with | C0748709 | Abdomen distended | SIGN SYMPTOM COMPLEX | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | ssc | C1262477 | Abdomen distended | Weight Loss | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Decrease in existing BODY WEIGHT. |
C0000731 | inverse_isa | C1290864 | Abdomen distended | Disorder of abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | possibly_equivalent_to | C0000734 | Abdomen distended | Abdominal mass | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | An abnormal enlargement or swelling in the abdomen. [] |
C0000731 | finding_site_of | C1508499 | Abdomen distended | Abdominopelvic structure | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | inverse_isa | C0476310 | Abdomen distended | Abdominal or pelvic swelling, mass, or lump | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | moved_from | C1299996 | Abdomen distended | Extension Namespace 1000000 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | temporal_context_of | C1444636 | Abdomen distended | Current or specified | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | finding_context_of | C1444639 | Abdomen distended | Known present | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | subject_relationship_context_of | C1444713 | Abdomen distended | Subject of record | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | associated_finding_of | C1457887 | Abdomen distended | Symptoms | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Subjective evidence of disease perceived by the patient. |
C0000731 | associated_finding_of | C1689949 | Abdomen distended | Finding reported by subject or history provider | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C1854928 | Abdomen distended | Protuberant abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | An indication that there is unusual or prominent convexity of the abdomen on visual inspection. |
C0000731 | inverse_isa | C0740651 | Abdomen distended | Abdominal symptom | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | A subjective manifestation of disease localized to the abdomen. [] |
C0000731 | has_defining_characteristic | C0009806 | Abdomen distended | Constipation | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections. |
C0000731 | has_defining_characteristic | C4060521 | Abdomen distended | Dysfunctional gastrointestinal motility | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Increased, decreased, ineffective, or lack of peristaltic activity within the gastrointestinal system. |
C0000731 | has_defining_characteristic | C4060572 | Abdomen distended | Chronic functional constipation | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Infrequent or difficult evacuation of feces, which has been present for at least 3 of the prior 12 months. |
C0000731 | has_manifestation | C0043208 | Abdomen distended | Wolman Disease | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic... |
C0000731 | has_manifestation | C1864996 | Abdomen distended | Visceral Neuropathy, Familial, Autosomal Dominant | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C2931002 | Abdomen distended | Congenital disorder of glycosylation type 1H | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | A form of congenital disorders of N-linked glycosylation that is characterised by gastrointestinal symptoms (diarrhoea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), oedema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocyt... |
C0000731 | has_manifestation | C4540036 | Abdomen distended | FRASER SYNDROME 2 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5543466 | Abdomen distended | VISCERAL MYOPATHY 2 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5543476 | Abdomen distended | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5543636 | Abdomen distended | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5676901 | Abdomen distended | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5676934 | Abdomen distended | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_manifestation | C5774195 | Abdomen distended | LIVER DISEASE, SEVERE CONGENITAL | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C0424824 | Abdomen distended | Abdominal distension symptom | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C0577127 | Abdomen distended | Uniform abdominal distention | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C0577128 | Abdomen distended | Localized abdominal distention | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | inverse_isa | C0577126 | Abdomen distended | Finding of contour of abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | possibly_equivalent_to | C0424824 | Abdomen distended | Abdominal distension symptom | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | has_associated_finding | C0424826 | Abdomen distended | Abdomen not distended | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C0232570 | Abdomen distended | Epigastric fullness | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C0235698 | Abdomen distended | Abdominal distension, gaseous | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C1291077 | Abdomen distended | Abdominal bloating | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of... |
C0000731 | inverse_isa | C0577119 | Abdomen distended | Finding of appearance of abdomen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | inverse_isa | C0577596 | Abdomen distended | Swelling of body region | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | inverse_isa | C1333803 | Abdomen distended | Gastrointestinal System Finding | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Symptoms, physical examination results, and/or laboratory test results related to the digestive system. |
C0000731 | inverse_isa | C3164996 | Abdomen distended | Swelling of trunk | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2126023 | Abdomen distended | abdominal swelling relieved by passing gas | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2126024 | Abdomen distended | abdominal swelling relieved by bowel movement | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2126025 | Abdomen distended | abdominal swelling relieved by vomiting | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2126026 | Abdomen distended | abdominal swelling relieved by urination | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | isa | C2129190 | Abdomen distended | gradually progressive abdominal swelling over period of time | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | finding_site_of | C0012240 | Abdomen distended | Gastrointestinal system | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | A group of organs stretching from the MOUTH to the ANUS, serving to breakdown foods, assimilate nutrients, and eliminate waste. In humans, the digestive system includes the GASTROINTESTINAL TRACT and the accessory glands (LIVER; BILIARY TRACT; PANCREAS). |
C0000731 | associated_morphology_of | C0038999 | Abdomen distended | Swelling | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | Enlargement; expansion in size; sign of inflammation |
C0000731 | finding_method_of | C0184661 | Abdomen distended | Interventional procedure | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects. |
C0000731 | possibly_equivalent_to | C0423588 | Abdomen distended | Abdomen feels swollen | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | possibly_equivalent_to | C0476310 | Abdomen distended | Abdominal or pelvic swelling, mass, or lump | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
C0000731 | possibly_equivalent_to | C0495676 | Abdomen distended | Intra-abdominal and pelvic swelling, mass and lump | Distention of the abdomen. [https://orcid.org/0000-0002-0736-9199] | null |
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