{"Name":"Aland island eye disease","DiseaseID__c":"GARD:0010574","id":10574,"encodedName":"aland-island-eye-disease","IsDeleted":false,"Disease_Name_Full__c":"Aland island eye disease","Xref_IDs__c":"266455006; C0268505; C562664; DOID:0050630; MEDGEN:120643; MONDO:0010371; OMIM:300600; ORPHA:178333","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":2,"Description_Source__c":"MONDO:0010371","Disease_Description__c":"An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.","GARD_Name__c":"Aland island eye disease","GARD_Synonym__c":"aied; forsius eriksson type ocular albinism; forsius-eriksson syndrome; forsius-eriksson type ocular albinism; åland islands eye disease","Curated_Disease_Description_Source__c":"MONDO:0010371","Curated_Disease_Description__c":"An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:178333","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010371","ORPHANET_ID__c":"ORPHA:178333","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad ocular de las islas åland","Spanish_Description_Source__c":"ORPHA:178333","Spanish_Description__c":"Es una enfermedad retiniana ligada al cromosoma X recesiva caracterizada por hipopigmentación de fondo de ojo, disminución de la agudeza visual, nistagmo, astigmatismo, miopía axial progresiva, adaptación a la oscuridad defectuosa y pronatopia.","Spanish_Disease_Name__c":"enfermedad ocular de las islas åland","Spanish_GARD_Synonym__c":"aied; albinismo ocular tipo forsius-eriksson; síndrome de forsius-eriksson","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 X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.","Curated_Disease_Description_Source__c":"MONDO:0010371","GARD_Synonym__c":"aied; forsius eriksson type ocular albinism; forsius-eriksson syndrome; forsius-eriksson type ocular albinism; åland islands eye disease","Name":"Aland island eye disease","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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:178333"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:178333"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268505"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010574","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268505","Source__c":"C0268505","Xref__c":"C0268505"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120643","Source__c":"C0268505","Xref__c":"MEDGEN:120643"},{"URL__c":"https://www.omim.org/entry/300600","Source__c":"C0268505; MONDO:0010371; ORPHA:178333","Xref__c":"OMIM:300600"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=266455006","Source__c":"MONDO:0010371","Xref__c":"266455006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050630","Source__c":"MONDO:0010371","Xref__c":"DOID:0050630"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562664","Source__c":"MONDO:0010371","Xref__c":"C562664"},{"URL__c":"https://www.orpha.net/en/disease/detail/178333","Source__c":"C0268505; MONDO:0010371; ORPHA:178333","Xref__c":"ORPHA:178333"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010371","Source__c":"GARD:0010574","Xref__c":"MONDO:0010371"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CACNA1F","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cacna1f","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:178333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030513","HPO_Name__c":"Difficulty adjusting from light to dark","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fovea centralis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007750","HPO_Synonym__c":"Foveal hypoplasia","HPO_Name__c":"Hypoplasia of the fovea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178333","HPO_Frequency__c":"Very frequent (80-99%)","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:178333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178333","HPO_Frequency__c":"Very frequent (80-99%)","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:178333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007894","HPO_Synonym__c":"Decreased fundus pigmentation; Depigmented fundus; Hypopigmentation of the fundus","HPO_Name__c":"Fundus hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:178333","HPO_Frequency__c":"Very frequent (80-99%)","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"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["aied"," forsius eriksson type ocular albinism"," forsius-eriksson syndrome"," forsius-eriksson type ocular albinism"," åland islands eye disease"]}