{"Name":"Congenital hereditary endothelial dystrophy of cornea","DiseaseID__c":"GARD:0006196","id":6196,"encodedName":"congenital-hereditary-endothelial-dystrophy-of-cornea","IsDeleted":false,"Disease_Name_Full__c":"Congenital hereditary endothelial dystrophy of cornea","Xref_IDs__c":"C1857569; C536439; DOID:0060649; MEDGEN:387857; MONDO:0009019; OMIM:217700; ORPHA:293603","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009019","Disease_Description__c":"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.","GARD_Name__c":"Congenital hereditary endothelial dystrophy of cornea","GARD_Synonym__c":"autosomal recessive ched; autosomal recessive congenital hereditary endothelial dystrophy; ched; ched ii - congenital hereditary endothelial dystrophy ii; ched2; chedii; congenital hereditary endothelial dystrophy of the cornea; congenital hereditary endothelial dystrophy type 2; congenital hereditary endothelial dystrophy type ii; congenital hereditary endothelial dystrophy, autosomal recessive form; corneal dystrophy, congenital hereditary endothelial; corneal endothelial dystrophy, autosomal recessive; infantile hereditary endothelial dystrophy; maumenee corneal dystrophy","Curated_Disease_Description_Source__c":"MONDO:0009019","Curated_Disease_Description__c":"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:293603","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009019","ORPHANET_ID__c":"ORPHA:293603","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia endotelial hereditaria congénita ii","Spanish_Description_Source__c":"ORPHA:293603","Spanish_Description__c":"La distrofia endotelial hereditaria congénita II (DEHC II) es un subtipo poco frecuente de distrofia corneal posterior (ver este término), caracterizada por una apariencia difusa de vidrio esmerilado en las córneas y marcado engrosamiento corneal desde el nacimiento con nistagmus y visión borrosa.","Spanish_Disease_Name__c":"distrofia endotelial hereditaria congénita ii","Spanish_GARD_Synonym__c":"ched autosómica recesiva; ched2; chedii; distrofia corneal de maumenee; distrofia endotelial hereditaria congénita 2; distrofia endotelial hereditaria congénita autosómica recesiva; distrofia endotelial hereditaria infantil","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":"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.","Curated_Disease_Description_Source__c":"MONDO:0009019","GARD_Synonym__c":"autosomal recessive ched; autosomal recessive congenital hereditary endothelial dystrophy; ched; ched ii - congenital hereditary endothelial dystrophy ii; ched2; chedii; congenital hereditary endothelial dystrophy of the cornea; congenital hereditary endothelial dystrophy type 2; congenital hereditary endothelial dystrophy type ii; congenital hereditary endothelial dystrophy, autosomal recessive form; corneal dystrophy, congenital hereditary endothelial; corneal endothelial dystrophy, autosomal recessive; infantile hereditary endothelial dystrophy; maumenee corneal dystrophy","Name":"Congenital hereditary endothelial dystrophy of cornea","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"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:293603"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:293603"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006196","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060649","Source__c":"MONDO:0009019","Xref__c":"DOID:0060649"},{"URL__c":"https://www.omim.org/entry/217700","Source__c":"C1857569; MONDO:0009019; ORPHA:293603","Xref__c":"OMIM:217700"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857569","Source__c":"C1857569","Xref__c":"C1857569"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536439","Source__c":"MONDO:0009019","Xref__c":"C536439"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=387857","Source__c":"C1857569","Xref__c":"MEDGEN:387857"},{"URL__c":"https://www.orpha.net/en/disease/detail/293603","Source__c":"C1857569; MONDO:0009019; ORPHA:293603","Xref__c":"ORPHA:293603"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009019","Source__c":"GARD:0006196","Xref__c":"MONDO:0009019"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=417395001","Source__c":"C1857569","Xref__c":"417395001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC4A11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031792","HPO_Name__c":"Irregular astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of fluid and swelling of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012040","HPO_Name__c":"Corneal stromal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011490","HPO_Synonym__c":"Abnormality of Descemet's membrane","HPO_Name__c":"Abnormal Descemet membrane morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A increased anteroposterior thickness of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011487","HPO_Name__c":"Increased corneal thickness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:293603","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["autosomal recessive ched"," autosomal recessive congenital hereditary endothelial dystrophy"," ched"," ched ii - congenital hereditary endothelial dystrophy ii"," ched2"," chedii"," congenital hereditary endothelial dystrophy of the cornea"," congenital hereditary endothelial dystrophy type 2"," congenital hereditary endothelial dystrophy type ii"," congenital hereditary endothelial dystrophy, autosomal recessive form"," corneal dystrophy, congenital hereditary endothelial"," corneal endothelial dystrophy, autosomal recessive"," infantile hereditary endothelial dystrophy"," maumenee corneal dystrophy"]}