{ "id": 6756, "label": "intestinal disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005020", "properties": { "xrefs": [ "DOID:5295", "EFO:0009431", "ICD9:520-579", "ICD9:560-569", "ICD9:564", "ICD9:564.4", "ICD9:569", "ICD9:569.4", "ICD9:569.49", "ICD9:569.89", "ICD9:569.9", "ICD9:570-579", "ICD9:575", "MEDGEN:7130", "MESH:D007410", "NCIT:C26801", "SCTID:85919009", "UMLS:C0021831" ], "synonyms": [ "disease of intestine", "disease or disorder of intestine", "disorder of intestine", "intestinal disease", "intestinal disorder", "intestine disease", "intestine disease or disorder", "disease, intestinal", "diseases, intestinal" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the small or large intestine." }, "isLeaf": false, "isRoot": false, "child_count": 58, "parents": [ { "id": 6151, "label": "digestive system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:77", "ICD10CM:K00-K95", "ICD9:520-579", "ICD9:V47.3", "MEDGEN:892790", "MESH:D005767", "NANDO:1100013", "NCIT:C2990", "SCTID:53619000", "UMLS:C4023588", "icd11.foundation:1256772020" ], "synonyms": [ "digestive disease", "digestive system disease", "digestive system disease or disorder", "digestive system disorder", "disease of digestive system", "disease or disorder of digestive system", "disorder of digestive system", "gastroenterological system disease", "gastroenterological system disorder", "gastrointestinal disorder", "gastrointestinal system disease", "gastrointestinal system disorder", "stomach or intestinal disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A disease or disorder that involves the digestive system." }, "child_count": 31, "reference_id": "MONDO:0004335" } ], "children": [ { "id": 3302, "label": "intestinal atresia", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10486", "HP:0011100", "MEDGEN:7129", "MESH:D007409", "NCIT:C84790", "UMLS:C0021828" ], "synonyms": [ "atresia of the intestine", "congenital intestinal atresia", "intestinal atresia", "intestinal atresia (disease)" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine." }, "child_count": 2, "reference_id": "MONDO:0001045" }, { "id": 3328, "label": "steatorrhea", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10602", "HP:0002570", "MEDGEN:20948", "MESH:D045602", "NCIT:C86917", "SCTID:27868004", "UMLS:C0038238", "icd11.foundation:1611008596" ], "synonyms": [ "fatty stool", "fatty stool (finding)", "steatorrhea", "steatorrhea (disease)" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A finding of an excessive amount of fat in the stool." }, "child_count": 1, "reference_id": "MONDO:0001075" }, { "id": 3384, "label": "angiodysplasia of intestine", "isLeaf": true, "isRoot": false, "parents": [ 4429, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10846", "ICD9:569.84", "ICD9:569.85", "MEDGEN:540621", "SCTID:235853006", "UMLS:C0267367" ], "synonyms": [ "intestine angiodysplasia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A angiodysplasia that involves the intestine." }, "child_count": 0, "reference_id": "MONDO:0001138" }, { "id": 3518, "label": "endometriosis of intestine", "isLeaf": true, "isRoot": false, "parents": [ 6756, 6857 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11428", "ICD10CM:N80.5", "ICD9:617.5", "MEDGEN:510251", "SCTID:5562006", "UMLS:C0156347", "icd11.foundation:706777963" ], "synonyms": [ "endometriosis (disease) of intestine", "intestine endometriosis (disease)" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Endometriosis that affects the intesines." }, "child_count": 0, "reference_id": "MONDO:0001284" }, { "id": 3765, "label": "hypertrophic pyloric stenosis", "isLeaf": false, "isRoot": false, "parents": [ 3766, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12638", "EFO:0004707", "ICD10CM:Q40.0", "ICD9:750.5", "MESH:D046248", "NCIT:C98952", "SCTID:48644003" ], "synonyms": [ "IHPS", "congenital Hypertrophy of the pylorus", "congenital constriction of the pylorus", "congenital hypertrophic pyloric stenosis", "congenital pyloric stenosis", "congenital stricture of the pylorus", "infantile Hypertrophy of the pylorus", "infantile constriction of the pylorus", "infantile hypertrophic pyloric stenosis", "infantile pyloric stenosis", "infantile stricture of the pylorus", "pyloric stenosis, infantile" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." }, "child_count": 4, "reference_id": "MONDO:0001560" }, { "id": 3864, "label": "mucocele of appendix", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13248", "ICD9:543.9", "MEDGEN:10116", "NCIT:C3241", "SCTID:53773002", "UMLS:C0026684", "icd11.foundation:159513245" ], "synonyms": [ "appendiceal mucocele", "mucocele of the appendix" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Accumulation of mucus within the appendix." }, "child_count": 0, "reference_id": "MONDO:0001671" }, { "id": 4384, "label": "gastroenteritis", "isLeaf": false, "isRoot": false, "parents": [ 6756, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2326", "EFO:1001463", "ICD9:558.9", "MEDGEN:8967", "MESH:D005759", "NCIT:C34632", "SCTID:25374005", "UMLS:C0017160" ], "synonyms": [ "inflammation of intestine", "intestine inflammation", "infectious colitis, enteritis and gastroenteritis" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting." }, "child_count": 18, "reference_id": "MONDO:0002269" }, { "id": 6056, "label": "diverticulitis", "isLeaf": false, "isRoot": false, "parents": [ 6756, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7475", "EFO:1001460", "MEDGEN:41629", "MESH:D004238", "NCIT:C26752", "SCTID:307496006", "UMLS:C0012813" ], "synonyms": [ "digestive tract diverticulum inflammation", "inflammation of digestive tract diverticulum" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis." }, "child_count": 4, "reference_id": "MONDO:0004235" }, { "id": 6363, "label": "intestinal obstruction", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8437", "ICD9:560.89", "ICD9:560.9", "MEDGEN:43933", "MESH:D007415", "NCIT:C9175", "SCTID:81060008", "UMLS:C0021843" ], "synonyms": [ "bowel obstruction" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Blockage of the normal flow of the intestinal contents within the bowel." }, "child_count": 6, "reference_id": "MONDO:0004565" }, { "id": 6364, "label": "postgastrectomy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3549, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8439", "ICD10CM:K91.1", "ICD9:564.2", "MEDGEN:18588", "MESH:D011178", "SCTID:80193009", "UMLS:C0032763" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." }, "child_count": 4, "reference_id": "MONDO:0004566" }, { "id": 6411, "label": "chronic intestinal vascular insufficiency", "isLeaf": true, "isRoot": false, "parents": [ 6756, 20084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8633", "ICD9:557.1", "MEDGEN:90228", "SCTID:111354009", "UMLS:C0311262" ], "synonyms": [ "chronic mesenteric ischemia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0004622" }, { "id": 6635, "label": "bowel dysfunction", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9779", "ICD9:564.9", "MEDGEN:384468", "SCTID:235594008", "UMLS:C2004461" ], "synonyms": [ "disease of lower digestive tract", "lower digestive tract disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction." }, "child_count": 1, "reference_id": "MONDO:0004880" }, { "id": 6783, "label": "irritable bowel syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9778", "EFO:0000555", "ICD10CM:K58", "ICD10WHO:K58", "ICD9:564.1", "MEDGEN:5897", "MESH:D043183", "NCIT:C82343", "SCTID:10743008", "UMLS:C0022104", "icd11.foundation:1158238623" ], "synonyms": [ "IBS", "irritable bowel syndrome", "irritable colon", "mucus colitis", "spastic colon" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two)." }, "child_count": 0, "reference_id": "MONDO:0005052" }, { "id": 6842, "label": "Whipple disease", "isLeaf": true, "isRoot": false, "parents": [ 6756, 6839, 23208 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8476", "EFO:0000775", "GARD:0007889", "ICD10CM:K90.81", "ICD9:040.2", "MEDGEN:7347", "MESH:D008061", "MedDRA:10047931", "NCIT:C85228", "NORD:1850", "Orphanet:3452", "SCTID:41545003", "UMLS:C0023788", "icd11.foundation:1131038233" ], "synonyms": [ "Tropheryma whipplei caused disease or disorder", "Tropheryma whipplei disease or disorder", "Tropheryma whipplei infectious disease", "Whipple disease", "intestinal lipodystrophy", "intestinal lipophagic granulomatosis", "secondary non-tropical sprue", "Tropheryma whippelii infection", "Whipple's disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system." }, "child_count": 0, "reference_id": "MONDO:0005116" }, { "id": 6965, "label": "inflammatory bowel disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6756, 6778 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050589", "EFO:0003767", "ICD9:558.9", "MEDGEN:43877", "MESH:D015212", "NANDO:2100259", "NCIT:C3138", "OMIMPS:266600", "SCTID:24526004", "UMLS:C0021390" ], "synonyms": [ "IBD", "autoimmune bowel disorder", "inflammatory bowel disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type." }, "child_count": 120, "reference_id": "MONDO:0005265" }, { "id": 6983, "label": "intestinal polyp", "isLeaf": true, "isRoot": false, "parents": [ 6756, 6807 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003855", "HP:0005266", "ICD9:569.89", "MEDGEN:9526", "MESH:D007417", "SCTID:254588001", "UMLS:C0021846" ], "synonyms": [ "intestinal polyp", "intestinal polyp (disease)" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." }, "child_count": 0, "reference_id": "MONDO:0005288" }, { "id": 7005, "label": "necrotizing enterocolitis", "isLeaf": false, "isRoot": false, "parents": [ 6756, 10415 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003928", "GARD:0009767", "ICD10CM:K55.3", "ICD9:777.5", "MEDGEN:105440", "MESH:D020345", "NCIT:C84915", "Orphanet:391673", "SCTID:2707005", "UMLS:C0520459", "icd11.foundation:141267925" ], "synonyms": [ "NEC", "necrotizing enterocolitis", "necrotizing enterocolitis in fetus or newborn", "necrotizing enterocolitis in foetus or newborn" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death." }, "child_count": 2, "reference_id": "MONDO:0005313" }, { "id": 8255, "label": "intestinal perforation", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2074", "EFO:1000987", "ICD9:569.83", "MEDGEN:9525", "MESH:D007416", "MedDRA:10022694", "NCIT:C39611", "SCTID:56905009", "UMLS:C0021845" ], "synonyms": [ "bowel perforation", "perforation of intestine" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." }, "child_count": 2, "reference_id": "MONDO:0006807" }, { "id": 8309, "label": "neurogenic bowel", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13419", "ICD9:564.81", "MEDGEN:151969", "MESH:D055496", "MedDRA:10048657", "SCTID:425671009", "UMLS:C0695242" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." }, "child_count": 0, "reference_id": "MONDO:0006868" }, { "id": 8346, "label": "pneumatosis cystoides intestinalis", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13249", "EFO:1001113", "ICD9:569.89", "MEDGEN:18527", "MESH:D011006", "MedDRA:10049732", "SCTID:17465007", "UMLS:C0032266" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "The presence of gas within the wall of the large or small intestine." }, "child_count": 0, "reference_id": "MONDO:0006912" }, { "id": 9943, "label": "volvulus of midgut", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027787", "MEDGEN:113153", "MESH:C562456", "NCIT:C98961", "OMIM:193250", "Orphanet:508410", "SCTID:458422009", "UMLS:C0221210" ], "synonyms": [ "congenital malrotation of intestine", "intestinal malrotation", "volvulus of midgut", "intestinal malrotation, familial" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction." }, "child_count": 2, "reference_id": "MONDO:0008666" }, { "id": 9966, "label": "abetalipoproteinemia", "isLeaf": true, "isRoot": false, "parents": [ 5573, 6756, 17998, 19712, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1386", "GARD:0000005", "MEDGEN:1253", "MESH:D000012", "NANDO:1200857", "NANDO:2200604", "NCIT:C84525", "NORD:703", "OMIM:200100", "Orphanet:14", "SCTID:190787008", "UMLS:C0000744", "icd11.foundation:1117838449" ], "synonyms": [ "Bassen-Kornzweig disease", "abetalipoproteinemia", "homozygous familial hypobetalipoproteinemia", "ABL", "Bassen Kornzweig syndrome", "Bassen-Kornzweig syndrome", "Betalipoprotein deficiency disease", "MTP deficiency", "abetalipoproteinemia neuropathy", "acanthocytosis", "apolipoprotein B deficiency", "congenital betalipoprotein deficiency syndrome", "microsomal triglyceride transfer Protein deficiency" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations." }, "child_count": 0, "reference_id": "MONDO:0008692" }, { "id": 10076, "label": "aplasia cutis congenita-intestinal lymphangiectasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6756, 19049, 19143 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000753", "MEDGEN:349241", "MESH:C537788", "OMIM:207731", "Orphanet:1116", "SCTID:720500008", "UMLS:C1859753" ], "synonyms": [ "Bronspiegel-Zelnick syndrome", "autosomal recessive aplasia cutis", "ACC with intestinal lymphangiectasia", "aplasia cutis congenita intestinal lymphangiectasia", "aplasia cutis congenita with intestinal lymphangiectasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0008808" }, { "id": 10352, "label": "trichohepatoenteric syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5658, 6756, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111414", "GARD:0005258", "MEDGEN:347405", "OMIMPS:222470", "Orphanet:84064", "SCTID:703406006", "UMLS:C1857276", "icd11.foundation:1470910753" ], "synonyms": [ "SD/THE", "Tricho-hepato-enteric syndrome", "Trichohepatoenteric syndrome", "Trichohepatoenteric syndrome type 1", "phenotypic diarrhea", "phenotypic diarrhoea", "syndromic diarrhea", "syndromic diarrhea/Tricho-hepato-enteric syndrome", "syndromic diarrhoea", "Syndromatic diarrhea", "Syndromatic diarrhoea", "THES1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." }, "child_count": 8, "reference_id": "MONDO:0009105" }, { "id": 10417, "label": "protein-losing enteropathy", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10611", "GARD:0015003", "HP:0002243", "ICD9:579.8", "MEDGEN:1622548", "MESH:D011504", "OMIM:226300", "Orphanet:566175", "SCTID:22542007", "UMLS:C4538570", "icd11.foundation:1821383469" ], "synonyms": [ "protein-losing enteropathy", "protein-losing enteropathy (disease)", "CHAPLE", "complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy", "complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy", "enteropathy, PROTEIN-losing" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine." }, "child_count": 0, "reference_id": "MONDO:0009174" }, { "id": 11923, "label": "chronic diarrhea with villous atrophy", "isLeaf": true, "isRoot": false, "parents": [ 6756, 16918 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016576", "MEDGEN:325129", "MESH:C564019", "OMIM:520100", "Orphanet:1670", "UMLS:C1838912" ], "synonyms": [ "diarrhea, chronic, with villous atrophy" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994." }, "child_count": 0, "reference_id": "MONDO:0010786" }, { "id": 12055, "label": "Satoyoshi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6660, 6756, 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000160", "MEDGEN:318882", "MESH:C536616", "MedDRA:10070579", "OMIM:600705", "Orphanet:3130", "SCTID:763630007", "UMLS:C1833454" ], "synonyms": [ "Komuragaeri disease", "Satoyoshi syndrome", "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities", "muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities", "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system." }, "child_count": 0, "reference_id": "MONDO:0010922" }, { "id": 12818, "label": "glucose-galactose malabsorption", "isLeaf": false, "isRoot": false, "parents": [ 6756, 19091 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070563", "GARD:0006521", "ICD9:271.3", "MEDGEN:78647", "MESH:C562602", "MedDRA:10066388", "NANDO:2200909", "NORD:1190", "OMIM:606824", "Orphanet:35710", "SCTID:190749000", "UMLS:C0268186", "icd11.foundation:2108415931" ], "synonyms": [ "SGLT1 deficiency", "glucose-galactose malabsorption", "Complex carbohydrate intolerance", "GGM", "carbohydrate intolerance of glucose galactose", "glucose galactose malabsorption deficiency", "glucose/galactose malabsorption", "monosaccharide malabsorption" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period." }, "child_count": 2, "reference_id": "MONDO:0011731" }, { "id": 15377, "label": "congenital diarrhea 7 with exudative enteropathy", "isLeaf": true, "isRoot": false, "parents": [ 3147, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060778", "GARD:0017500", "MEDGEN:862953", "OMIM:615863", "Orphanet:329242", "UMLS:C4014516" ], "synonyms": [ "DGAT1 congenital diarrhea", "DGAT1 congenital diarrhoea", "congenital chronic diarrhea with exudative enteropathy", "congenital chronic diarrhea with protein-losing enteropathy", "congenital diarrhea caused by mutation in DGAT1", "congenital diarrhoea caused by mutation in DGAT1", "diarrhea 7, protein-losing enteropathy type", "diarrhea type 7", "diarrhoea 7, protein-losing enteropathy type", "diarrhoea type 7", "DIAR7", "diarrhea 7", "diarrhoea 7" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema." }, "child_count": 0, "reference_id": "MONDO:0014375" }, { "id": 15527, "label": "chronic atrial and intestinal dysrhythmia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060339", "GARD:0012281", "MEDGEN:863911", "OMIM:616201", "Orphanet:435988", "SCTID:720507006", "UMLS:C4015474" ], "synonyms": [ "caid syndrome", "chronic atrial and intestinal dysrhythmia", "chronic atrial dysrhythmia-intestinal motility disorder", "Cohesinopathy affecting heart and gut rhythm", "caid", "chronic atrial and intestinal dysrhythmia syndrome", "chronic atrial intestinal dysrhythmia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)." }, "child_count": 0, "reference_id": "MONDO:0014528" }, { "id": 16097, "label": "congenital enterocyte heparan sulfate deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019839", "MEDGEN:1373054", "Orphanet:103910", "SCTID:725591002", "UMLS:C4511238" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life." }, "child_count": 0, "reference_id": "MONDO:0015171" }, { "id": 16102, "label": "short bowel syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10605", "GARD:0001502", "ICD9:579.3", "MEDGEN:19966", "MESH:D012778", "MedDRA:10049416", "NANDO:2100274", "NANDO:2200944", "NCIT:C99059", "NORD:1708", "Orphanet:104008", "SCTID:26629001", "UMLS:C0036992", "icd11.foundation:780637678" ], "synonyms": [ "short gut syndrome" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." }, "child_count": 1, "reference_id": "MONDO:0015183" }, { "id": 16176, "label": "intractable diarrhea-choanal atresia-eye anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019882", "MEDGEN:929976", "Orphanet:137622", "UMLS:C4304307" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously." }, "child_count": 0, "reference_id": "MONDO:0015295" }, { "id": 16792, "label": "solitary rectal ulcer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020444", "MEDGEN:906337", "Orphanet:209964", "SCTID:716685003", "UMLS:C4274343", "icd11.foundation:1677843970" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." }, "child_count": 0, "reference_id": "MONDO:0016208" }, { "id": 17407, "label": "NK-cell enteropathy", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020905", "MEDGEN:1379183", "Orphanet:263665", "SCTID:723496007", "UMLS:C4509932" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." }, "child_count": 0, "reference_id": "MONDO:0016996" }, { "id": 17723, "label": "chronic intestinal failure", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021178", "MEDGEN:909276", "Orphanet:294422", "SCTID:716665002", "UMLS:C4274352" ], "synonyms": [ "CIF" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease)." }, "child_count": 0, "reference_id": "MONDO:0017418" }, { "id": 18321, "label": "intestinal lymphangiectasia", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012331", "HP:0002593", "ICD9:457.1", "MEDGEN:9828", "MedDRA:10025213", "NANDO:2100256", "NANDO:2200914", "Orphanet:36204", "SCTID:197260007", "UMLS:C0024215", "icd11.foundation:1255239964" ], "synonyms": [ "intestinal lymphangiectasia", "intestinal lymphangiectasia (disease)" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies." }, "child_count": 2, "reference_id": "MONDO:0018178" }, { "id": 18436, "label": "refractory celiac disease", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009266", "GARD:0021640", "MEDGEN:1670595", "NORD:1653", "Orphanet:398063", "UMLS:C4749333" ], "synonyms": [ "intractable celiac sprue", "intractable coeliac sprue", "refractory CD", "refractory sprue", "type I refractory sprue", "type II refractory sprue" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia." }, "child_count": 0, "reference_id": "MONDO:0018353" }, { "id": 18486, "label": "eosinophilic gastrointestinal disease", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021714", "MEDGEN:1826142", "NANDO:1200454", "NANDO:2200807", "Orphanet:402029", "UMLS:C5680014" ], "synonyms": [ "EGID", "primary eosinophilic gastrointestinal disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0018438" }, { "id": 18730, "label": "cryptogenic multifocal ulcerous stenosing enteritis", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021945", "MEDGEN:927932", "Orphanet:468635", "SCTID:722849002", "UMLS:C4302263", "icd11.foundation:1401898155" ], "synonyms": [ "CMUSE" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018765" }, { "id": 18731, "label": "chronic enteropathy associated with SLCO2A1 gene", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021946", "MEDGEN:1800261", "NANDO:2100261", "NANDO:2200925", "Orphanet:468641", "UMLS:C5568838" ], "synonyms": [ "CEAS" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018766" }, { "id": 18745, "label": "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "isLeaf": true, "isRoot": false, "parents": [ 2702, 6756, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017857", "MEDGEN:1799074", "OMIM:618372", "Orphanet:477787", "UMLS:C5567651" ], "synonyms": [ "PLA2G4A-related platelet dysfunction", "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder", "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency", "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS", "GURDP", "Phospholipase A2, Group Iva, Deficiency of" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018794" }, { "id": 18840, "label": "malakoplakia", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001807", "GARD:0006960", "MEDGEN:44257", "MESH:D008287", "NCIT:C84833", "Orphanet:556", "SCTID:716766007", "UMLS:C0024525" ], "synonyms": [ "malacoplakia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." }, "child_count": 0, "reference_id": "MONDO:0018913" }, { "id": 20033, "label": "malabsorption syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009554", "MEDGEN:44256", "MESH:D008286", "NCIT:C3214", "SCTID:32230006", "UMLS:C0024523" ], "synonyms": [ "malabsorption", "malabsorption syndrome" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." }, "child_count": 9, "reference_id": "MONDO:0020598" }, { "id": 20085, "label": "ischemic bowel disorder", "isLeaf": false, "isRoot": false, "parents": [ 6756, 6784 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:412148", "NCIT:C35212", "UMLS:C2004435" ], "synonyms": [ "ischaemic bowel disease", "ischemic bowel disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Disease of the large or small intestine that is caused by inadequate blood supply." }, "child_count": 2, "reference_id": "MONDO:0020675" }, { "id": 20357, "label": "intestinal neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6756, 20434 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4610", "MEDGEN:43932", "NCIT:C3141", "ONCOTREE:BOWEL", "SCTID:126769007", "UMLS:C0021841" ], "synonyms": [ "intestinal neoplasm", "intestinal neoplasms", "intestinal tumor", "intestinal tumors", "intestinal tumour", "intestinal tumours", "intestine neoplasm", "intestine neoplasm (disease)", "intestine tumor", "intestine tumour", "neoplasm of intestine", "neoplasm of intestines", "neoplasm of the intestines", "tumor of intestine", "tumor of intestines", "tumor of the intestines", "tumour of intestine", "tumour of intestines", "tumour of the intestines", "bowel neoplasm", "intestinal benign neoplasm" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A benign or malignant neoplasm involving the small or large intestine." }, "child_count": 12, "reference_id": "MONDO:0021118" }, { "id": 20415, "label": "intestinal motility disease", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:586448", "UMLS:C0400865" ], "synonyms": [ "disorder of intestinal motility" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A disease that has its basis in the disruption of intestinal motility." }, "child_count": 15, "reference_id": "MONDO:0021189" }, { "id": 20840, "label": "4-hydroxyphenylacetic aciduria", "isLeaf": true, "isRoot": false, "parents": [ 6756, 18954 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008155", "MEDGEN:376417", "MESH:C535315", "UMLS:C1848680" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0022330" }, { "id": 21309, "label": "parasitic intestinal disorder", "isLeaf": false, "isRoot": false, "parents": [ 6756, 6859, 23208 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009561", "MEDGEN:7131", "MESH:D007411", "UMLS:C0021832" ], "synonyms": [ "intestine parasitic infection", "parasitic intestinal disease", "disease, parasitic intestinal", "diseases, parasitic intestinal", "intestinal disease, parasitic", "parasitic intestinal diseases" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." }, "child_count": 21, "reference_id": "MONDO:0024270" }, { "id": 21416, "label": "Aeromonas hydrophila intestinal disease", "isLeaf": true, "isRoot": false, "parents": [ 6756, 6843, 23208 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:008.47", "MEDGEN:755174", "SCTID:446988001", "UMLS:C2960005" ], "synonyms": [ "intestinal infection caused by Aeromonas hydrophila", "intestinal infection due to Aeromonas hydrophila" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0024459" }, { "id": 21545, "label": "large intestine disorder", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:574315", "SCTID:119523007", "UMLS:C0341321" ], "synonyms": [ "disease of large intestine", "disease or disorder of large intestine", "disorder of large intestine", "large intestine disease or disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A disease that involves the large intestine." }, "child_count": 11, "reference_id": "MONDO:0024634" }, { "id": 21546, "label": "small intestine disorder", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:574283", "SCTID:119522002", "UMLS:C0341268" ], "synonyms": [ "disease of small intestine", "disease or disorder of small intestine", "disorder of small intestine", "small intestine disease or disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A disease that involves the small intestine." }, "child_count": 10, "reference_id": "MONDO:0024635" }, { "id": 22786, "label": "primary desmosis coli", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022268", "MEDGEN:1812159", "Orphanet:565641", "UMLS:C5680125" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation." }, "child_count": 0, "reference_id": "MONDO:0034846" }, { "id": 22796, "label": "isolated mesenteric vein thrombosis", "isLeaf": true, "isRoot": false, "parents": [ 3150, 6420, 6756 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022339", "MEDGEN:120599", "Orphanet:583861", "UMLS:C0267412", "icd11.foundation:213868120" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0035009" }, { "id": 23281, "label": "collagenous sprue", "isLeaf": true, "isRoot": false, "parents": [ 6756, 6795 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:137953", "MESH:D064068", "NCIT:C45426", "SCTID:61738006", "UMLS:C0341299", "icd11.foundation:562877246" ], "synonyms": [ "collagenous sprue", "non-gluten sensitive enteropathy syndrome", "Sprues, collagenous", "collagenous Sprues", "collagenous enteropathy", "collagenous enteropathy syndrome", "non-gluten intolerance syndrome", "sprue, collagenous" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal." }, "child_count": 0, "reference_id": "MONDO:0044092" }, { "id": 25310, "label": "visceral leiomyopathy, African degenerative", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1781444", "OMIM:619400", "UMLS:C5443983" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859166" }, { "id": 25426, "label": "intestinal dysmotility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1823992", "OMIM:620045", "UMLS:C5774219" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859289" }, { "id": 29248, "label": "intestinal fistula", "isLeaf": false, "isRoot": false, "parents": [ 6756 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:5862", "UMLS:C0021833" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "An intestinal disorder characterized by an opening in the intestine to some epithelial surface." }, "child_count": 1, "reference_id": "MONDO:1040017" } ], "roots": [ { "id": 6151, "label": "digestive system disorder" } ] }