{"Name":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","DiseaseID__c":"GARD:0017719","id":17719,"encodedName":"colobomatous-optic-disc-macular-atrophy-chorioretinopathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","Xref_IDs__c":"C4225424; C565876; DOID:0080635; MEDGEN:894574; MONDO:0008927; OMIM:212550; ORPHA:435930","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008927","Disease_Description__c":"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.","GARD_Name__c":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","GARD_Synonym__c":"colobomatous optic disc, macular atrophy, chorioretinopathy syndrome; odrmd; optic disc anomalies with retinal and/or macular dystrophy","Curated_Disease_Description_Source__c":"MONDO:0008927","Curated_Disease_Description__c":"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:435930","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008927","ORPHANET_ID__c":"ORPHA:435930","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disco óptico colobomatoso-atrofia macular-coriorretinopatía","Spanish_Description_Source__c":"ORPHA:435930","Spanish_Description__c":"Es una enfermedad ocular de base genética poco frecuente caracterizada por anomalías del disco óptico (disco óptico colobomatoso bilateral, vasos retinianos procedentes de la periferia del disco óptico) y atrofia macular. También se ha descrito atrofia coriorretiniana peripapilar y coloboma de iris y coriorretiniano. Los pacientes se presentan con nistagmo horizontal y escasa agudeza visual.","Spanish_Disease_Name__c":"síndrome de disco óptico colobomatoso-atrofia macular-coriorretinopatía","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.","Curated_Disease_Description_Source__c":"MONDO:0008927","GARD_Synonym__c":"colobomatous optic disc, macular atrophy, chorioretinopathy syndrome; odrmd; optic disc anomalies with retinal and/or macular dystrophy","Name":"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome","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":"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":"Neonatal","Provided_By__c":"ORPHA:435930"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565876","Source__c":"MONDO:0008927","Xref__c":"C565876"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=894574","Source__c":"C4225424","Xref__c":"MEDGEN:894574"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225424","Source__c":"C4225424","Xref__c":"C4225424"},{"URL__c":"https://www.orpha.net/en/disease/detail/435930","Source__c":"C4225424; MONDO:0008927; ORPHA:435930","Xref__c":"ORPHA:435930"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080635","Source__c":"MONDO:0008927","Xref__c":"DOID:0080635"},{"URL__c":"https://www.omim.org/entry/212550","Source__c":"C4225424; MONDO:0008927; ORPHA:435930","Xref__c":"OMIM:212550"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008927","Source__c":"GARD:0017719","Xref__c":"MONDO:0008927"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197357008","Source__c":"C4225424","Xref__c":"1197357008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SIX6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:212550","Feature__r":{"HPO_Description__c":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000556","HPO_Synonym__c":"Breakdown of light-sensitive cells in back of eye","HPO_Name__c":"Retinal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000567","HPO_Synonym__c":"Birth defect that causes a hole in the innermost layer at the back of the eye; Choroidoretinal coloboma","HPO_Name__c":"Chorioretinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:212550","Feature__r":{"HPO_Description__c":"Abnormal (non-physiological) constriction of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000616","HPO_Synonym__c":"Constricted pupils; Pupillary constriction","HPO_Name__c":"Miosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000559","HPO_Name__c":"Corneal scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007401","HPO_Name__c":"Macular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffusely large eye (with megalocornea) associated with glaucoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000557","HPO_Synonym__c":"Enlarged eyeball","HPO_Name__c":"Buphthalmos","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212550","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["colobomatous optic disc, macular atrophy, chorioretinopathy syndrome"," odrmd"," optic disc anomalies with retinal and/or macular dystrophy"]}