{"Name":"Posterior polymorphous corneal dystrophy","DiseaseID__c":"GARD:0016882","id":16882,"encodedName":"posterior-polymorphous-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Posterior polymorphous corneal dystrophy","Xref_IDs__c":"C0339284; DOID:0060457; MEDGEN:87382; MONDO:0020364; OMIMPS:122000; ORPHA:98973","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":1,"Description_Source__c":"MONDO:0020364","Disease_Description__c":"A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.","GARD_Name__c":"Posterior polymorphous corneal dystrophy","GARD_Synonym__c":"corneal dystrophy, hereditary polymorphous posterior; corneal dystrophy, posterior polymorphous; hereditary polymorphus posterior corneal dystrophy; polymorphous corneal dystrophy; polymorphous posterior corneal dystrophy; posterior polymorphous dystrophy; ppcd; schlichting dystrophy","Curated_Disease_Description_Source__c":"MONDO:0020364","Curated_Disease_Description__c":"A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98973","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020364","ORPHANET_ID__c":"ORPHA:98973","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal polimorfa posterior","Spanish_Description_Source__c":"ORPHA:98973","Spanish_Description__c":"Es un subtipo raro y leve de distrofia corneal posterior caracterizado por pequeñas agregaciones de vesículas aparentes delimitadas por una neblina gris a nivel de la membrana de Descemet, generalmente sin efecto en la visión.","Spanish_Disease_Name__c":"distrofia corneal polimorfa posterior","Spanish_GARD_Synonym__c":null,"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":"A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.","Curated_Disease_Description_Source__c":"MONDO:0020364","GARD_Synonym__c":"corneal dystrophy, hereditary polymorphous posterior; corneal dystrophy, posterior polymorphous; hereditary polymorphus posterior corneal dystrophy; polymorphous corneal dystrophy; polymorphous posterior corneal dystrophy; posterior polymorphous dystrophy; ppcd; schlichting dystrophy","Name":"Posterior polymorphous corneal dystrophy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"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":"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":"Childhood","Provided_By__c":"ORPHA:98973"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060457","Source__c":"MONDO:0020364","Xref__c":"DOID:0060457"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339284","Source__c":"C0339284","Xref__c":"C0339284"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS122000","Source__c":"MONDO:0020364","Xref__c":"OMIMPS:122000"},{"URL__c":"https://www.orpha.net/en/disease/detail/98973","Source__c":"MONDO:0020364","Xref__c":"ORPHA:98973"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87382","Source__c":"C0339284","Xref__c":"MEDGEN:87382"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007915","Source__c":"C0339284","Xref__c":"HP:0007915"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020364","Source__c":"GARD:0016882","Xref__c":"MONDO:0020364"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=29504002","Source__c":"C0339284","Xref__c":"29504002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GRHL2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ZEB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"OVOL2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL8A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col8a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"VSX1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","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"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormality of tear production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000632","HPO_Synonym__c":"Abnormality of tear production","HPO_Name__c":"Lacrimation abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A malposition of the pupil owing to a developmental defect of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009918","HPO_Synonym__c":"Corectopia; Displaced pupil","HPO_Name__c":"Ectopia pupillae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Occasional (5-29%)","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:98973","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of corneal endothelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011491","HPO_Name__c":"Reduced number of corneal endothelial cells","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of iris pigment epithelium on the anterior surface of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025358","HPO_Synonym__c":"Ectropion uveae","HPO_Name__c":"Uveal ectropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","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:98973","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032122","HPO_Name__c":"Very low visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:98973","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in the degree of curvature of the cornea compared to normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100692","HPO_Synonym__c":"Steep corneal curvature","HPO_Name__c":"Increased corneal curvature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Occasional (5-29%)","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:98973","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011483","HPO_Synonym__c":"Anterior synechiae; Cornea-iris adhesion; Iridocorneal adhesions; Iridocorneal synechia","HPO_Name__c":"Anterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98973","HPO_Frequency__c":"Uncommon (<1-4%)","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:98973","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["corneal dystrophy, hereditary polymorphous posterior"," corneal dystrophy, posterior polymorphous"," hereditary polymorphus posterior corneal dystrophy"," polymorphous corneal dystrophy"," polymorphous posterior corneal dystrophy"," posterior polymorphous dystrophy"," ppcd"," schlichting dystrophy"]}