{"Name":"Ptosis-strabismus-ectopic pupils syndrome","DiseaseID__c":"GARD:0004577","id":4577,"encodedName":"ptosis-strabismus-ectopic-pupils-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ptosis-strabismus-ectopic pupils syndrome","Xref_IDs__c":"C1867437; C566736; MEDGEN:356778; MONDO:0008341; OMIM:178330; ORPHA:2999","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":3,"Description_Source__c":"MONDO:0008341","Disease_Description__c":"A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.","GARD_Name__c":"Ptosis-strabismus-ectopic pupils syndrome","GARD_Synonym__c":"mcpherson-hall syndrome; ptosis, strabismus, and ectopic pupils","Curated_Disease_Description_Source__c":"MONDO:0008341","Curated_Disease_Description__c":"A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:2999","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008341","ORPHANET_ID__c":"ORPHA:2999","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ptosis-estrabismo-pupilas ectópicas","Spanish_Description_Source__c":"ORPHA:2999","Spanish_Description__c":"Es un síndrome poco frecuente caracterizado por la asociación de ptosis, estrabismo y pupilas ectópicas. Se ha descrito en una familia (en una madre y tres de sus hijos). La transmisión es autosómica dominante.","Spanish_Disease_Name__c":"síndrome de ptosis-estrabismo-pupilas ectópicas","Spanish_GARD_Synonym__c":"síndrome de mcpherson-hall","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 disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.","Curated_Disease_Description_Source__c":"MONDO:0008341","GARD_Synonym__c":"mcpherson-hall syndrome; ptosis, strabismus, and ectopic pupils","Name":"Ptosis-strabismus-ectopic pupils 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":"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:2999"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2999"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2999"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/178330","Source__c":"C1867437; MONDO:0008341; ORPHA:2999","Xref__c":"OMIM:178330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=356778","Source__c":"C1867437","Xref__c":"MEDGEN:356778"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566736","Source__c":"MONDO:0008341","Xref__c":"C566736"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867437","Source__c":"C1867437","Xref__c":"C1867437"},{"URL__c":"https://www.orpha.net/en/disease/detail/2999","Source__c":"C1867437; MONDO:0008341","Xref__c":"ORPHA:2999"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008341","Source__c":"GARD:0004577","Xref__c":"MONDO:0008341"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:178330","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:178330","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["mcpherson-hall syndrome"," ptosis, strabismus, and ectopic pupils"]}