{"Name":"Triopia","DiseaseID__c":"GARD:0005286","id":5286,"encodedName":"triopia","IsDeleted":false,"Disease_Name_Full__c":"Triopia","Xref_IDs__c":"1285322008; C5816687; MEDGEN:1836871; MONDO:0031322; ORPHA:3374","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0031322","Disease_Description__c":"A craniofacial malformation with prosencephalic duplication; the presence of three eyes.","GARD_Name__c":"Triopia","GARD_Synonym__c":"triophthalmia; unilateral diplophthalmia; unilateral diplophthalmos; unilateral ocular duplication","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Triopia is a rare condition that affects development in the womb. Babies born with this condition may have an extra eye or one eye that is unusually large (synophthalmic eye). People with the condition also have other birth defects affecting the brain and face. A proboscis (poorly formed nose) is often present. People with Triopia usually have moderate intellectual disability and may experience seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3374","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0031322","ORPHANET_ID__c":"ORPHA:3374","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Duplicación ocular unilateral","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"duplicación ocular unilateral","Spanish_GARD_Synonym__c":"trioftalmia; triopía","Category_Linearization__c":"ORPHA:97966","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":"Triopia is a rare condition that affects development in the womb. Babies born with this condition may have an extra eye or one eye that is unusually large (synophthalmic eye). People with the condition also have other birth defects affecting the brain and face. A proboscis (poorly formed nose) is often present. People with Triopia usually have moderate intellectual disability and may experience seizures.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"triophthalmia; unilateral diplophthalmia; unilateral diplophthalmos; unilateral ocular duplication","Name":"Triopia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3374"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1836871","Source__c":"C5816687","Xref__c":"MEDGEN:1836871"},{"URL__c":"https://www.orpha.net/en/disease/detail/3374","Source__c":"MONDO:0031322","Xref__c":"ORPHA:3374"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5816687","Source__c":"C5816687","Xref__c":"C5816687"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1285322008","Source__c":"C5816687","Xref__c":"1285322008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0031322","Source__c":"GARD:0005286","Xref__c":"MONDO:0031322"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000615","HPO_Synonym__c":"Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality","HPO_Name__c":"Abnormal pupil morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000534","HPO_Synonym__c":"Abnormality of the eyebrow","HPO_Name__c":"Abnormal eyebrow morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001601","HPO_Synonym__c":"Softening of voice box tissue","HPO_Name__c":"Laryngomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital malformation with a cleft (gap or opening) in the midline of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100629","HPO_Synonym__c":"Midline facial cleft","HPO_Name__c":"Midline facial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000235","HPO_Synonym__c":"Abnormality of the fontanelles or cranial sutures","HPO_Name__c":"Abnormal cranial suture/fontanelle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of cleft lip presenting as a midline (median) gap in the upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000161","HPO_Synonym__c":"Central cleft upper lip; Midline cleft lip","HPO_Name__c":"Median cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002084","HPO_Synonym__c":"Bifid skull; Cranium bifidum","HPO_Name__c":"Encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["triophthalmia"," unilateral diplophthalmia"," unilateral diplophthalmos"," unilateral ocular duplication"]}