{"Name":"Oculogastrointestinal muscular dystrophy","DiseaseID__c":"GARD:0005496","id":5496,"encodedName":"oculogastrointestinal-muscular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Oculogastrointestinal muscular dystrophy","Xref_IDs__c":"722060007; C1848586; MEDGEN:336376; MONDO:0010181; OMIM:277320; ORPHA:1876","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010181","Disease_Description__c":"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.","GARD_Name__c":"Oculogastrointestinal muscular dystrophy","GARD_Synonym__c":"intestinal pseudoobstruction with external ophthalmoplegia; visceral myopathy with familial external ophthalmoplegia syndrome; visceral myopathy-familial external ophthalmoplegia syndrome","Curated_Disease_Description_Source__c":"MONDO:0010181","Curated_Disease_Description__c":"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1876","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010181","ORPHANET_ID__c":"ORPHA:1876","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular óculo-gastrointestinal","Spanish_Description_Source__c":"ORPHA:1876","Spanish_Description__c":"La distrofia muscular óculo-gastrointestinal es una enfermedad neuromuscular de herencia autosómica recesiva extremadamente poco frecuente, caracterizada por manifestaciones oculares tales como ptosis y diplopía seguidas de diarrea crónica, malnutrición y pseudo-obstrucción intestinal.","Spanish_Disease_Name__c":"distrofia muscular óculo-gastrointestinal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.","Curated_Disease_Description_Source__c":"MONDO:0010181","GARD_Synonym__c":"intestinal pseudoobstruction with external ophthalmoplegia; visceral myopathy with familial external ophthalmoplegia syndrome; visceral myopathy-familial external ophthalmoplegia syndrome","Name":"Oculogastrointestinal muscular dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1876"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/277320","Source__c":"C1848586; MONDO:0010181; ORPHA:1876","Xref__c":"OMIM:277320"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722060007","Source__c":"C1848586; MONDO:0010181","Xref__c":"722060007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848586","Source__c":"C1848586","Xref__c":"C1848586"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336376","Source__c":"C1848586","Xref__c":"MEDGEN:336376"},{"URL__c":"https://www.orpha.net/en/disease/detail/1876","Source__c":"C1848586; MONDO:0010181; ORPHA:1876","Xref__c":"ORPHA:1876"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010181","Source__c":"GARD:0005496","Xref__c":"MONDO:0010181"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the mitral valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001633","HPO_Synonym__c":"Abnormality of the mitral valve","HPO_Name__c":"Abnormal mitral valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005203","HPO_Synonym__c":"Spontaneous esophageal rupture","HPO_Name__c":"Spontaneous esophageal perforation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002578","HPO_Synonym__c":"Delayed gastric emptying","HPO_Name__c":"Gastroparesis","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastric mucous membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004295","HPO_Synonym__c":"Abnormality of the gastric mucosa; Abnormality of the mucous membrane layer of stomach","HPO_Name__c":"Abnormal gastric mucosa morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Paralysis of the external ocular muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000544","HPO_Synonym__c":"Chronic progressive external ophthalmoplegia; CPEO; Ophthalmoplegia externa; Paralysis or weakness of muscles within or surrounding outer part of eye; Progressive paralysis or weakness of muscles of eye motility; Progressive paralysis or weakness of muscles of eye movement","HPO_Name__c":"External ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004389","HPO_Synonym__c":"Intestinal pseudoobstruction","HPO_Name__c":"Intestinal pseudo-obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1876","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011024","HPO_Synonym__c":"Abnormality of the gastrointestinal tract; Abnormality of the GI tract","HPO_Name__c":"Abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Gastroenterology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["intestinal pseudoobstruction with external ophthalmoplegia"," visceral myopathy with familial external ophthalmoplegia syndrome"," visceral myopathy-familial external ophthalmoplegia syndrome"]}