{"Name":"X-linked corneal dermoid","DiseaseID__c":"GARD:0002580","id":2580,"encodedName":"x-linked-corneal-dermoid","IsDeleted":false,"Disease_Name_Full__c":"X-linked corneal dermoid","Xref_IDs__c":"715426004; C1844671; C535376; MEDGEN:375481; MONDO:0010579; OMIM:304730; ORPHA:1661","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:0010579","Disease_Description__c":"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.","GARD_Name__c":"X-linked corneal dermoid","GARD_Synonym__c":"corneal dystrophy epithelial-short stature syndrome; guízar vázquez luengas muñoz syndrome; guízar vázquez-luengas-muñoz syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C1844671","Curated_Disease_Description__c":"An exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1661","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010579","ORPHANET_ID__c":"ORPHA:1661","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dermoide corneal ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:1661","Spanish_Description__c":"El dermoide corneal ligado al X (DCN-X) es un tumor corneal congénito benigno extremadamente infrecuente caracterizado por opacificación bilateral de la córnea con capas superficiales grisáceas y placas blanquecinas irregulares elevadas, así como finos vasos sanguíneos cubriendo la córnea central y bordes corneales periféricos intactos. No se ha observado ninguna otra anomalía ocular o sistémica. El patrón de herencia descrito en las familias afectadas es consistente con un modo de transmisión ligado al X.","Spanish_Disease_Name__c":"dermoide corneal ligado al cromosoma x","Spanish_GARD_Synonym__c":"distrofia corneal epitelial-talla baja; síndrome de guízar-vázquez-luengas-muñoz","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":"An exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.","Curated_Disease_Description_Source__c":"MEDGEN:C1844671","GARD_Synonym__c":"corneal dystrophy epithelial-short stature syndrome; guízar vázquez luengas muñoz syndrome; guízar vázquez-luengas-muñoz syndrome","Name":"X-linked corneal dermoid","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:1661"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1661","Source__c":"C1844671; MONDO:0010579; ORPHA:1661","Xref__c":"ORPHA:1661"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715426004","Source__c":"C1844671; MONDO:0010579","Xref__c":"715426004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844671","Source__c":"C1844671","Xref__c":"C1844671"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535376","Source__c":"MONDO:0010579","Xref__c":"C535376"},{"URL__c":"https://www.omim.org/entry/304730","Source__c":"C1844671; MONDO:0010579; ORPHA:1661","Xref__c":"OMIM:304730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375481","Source__c":"C1844671","Xref__c":"MEDGEN:375481"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010579","Source__c":"GARD:0002580","Xref__c":"MONDO:0010579"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1661","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1661","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1661","HPO_Frequency__c":"Frequent (30-79%)","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:1661","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["corneal dystrophy epithelial-short stature syndrome"," guízar vázquez luengas muñoz syndrome"," guízar vázquez-luengas-muñoz syndrome"]}