{"Name":"Familial congenital palsy of trochlear nerve","DiseaseID__c":"GARD:0010355","id":10355,"encodedName":"familial-congenital-palsy-of-trochlear-nerve","IsDeleted":false,"Disease_Name_Full__c":"Familial congenital palsy of trochlear nerve","Xref_IDs__c":"782679002; C1850996; C565007; MEDGEN:338185; MONDO:0007626; OMIM:136480; ORPHA:91498","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:0007626","Disease_Description__c":"An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Familial congenital palsy of trochlear nerve","GARD_Synonym__c":"hereditary fourth cranial nerve palsy; strabismus from superior oblique palsy; superior oblique oculomotor palsy, familial congenital; trochlear nerve palsy, familial congenital","Curated_Disease_Description_Source__c":"MONDO:0007626","Curated_Disease_Description__c":"An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:91498","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007626","ORPHANET_ID__c":"ORPHA:91498","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis congénita del nervio troclear, forma familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"parálisis congénita del nervio troclear, forma familiar","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":"An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.","Curated_Disease_Description_Source__c":"MONDO:0007626","GARD_Synonym__c":"hereditary fourth cranial nerve palsy; strabismus from superior oblique palsy; superior oblique oculomotor palsy, familial congenital; trochlear nerve palsy, familial congenital","Name":"Familial congenital palsy of trochlear nerve","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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91498"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/136480","Source__c":"C1850996; MONDO:0007626; ORPHA:91498","Xref__c":"OMIM:136480"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338185","Source__c":"C1850996","Xref__c":"MEDGEN:338185"},{"URL__c":"https://www.orpha.net/en/disease/detail/91498","Source__c":"C1850996; MONDO:0007626; ORPHA:91498","Xref__c":"ORPHA:91498"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565007","Source__c":"MONDO:0007626","Xref__c":"C565007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850996","Source__c":"C1850996","Xref__c":"C1850996"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007626","Source__c":"GARD:0010355","Xref__c":"MONDO:0007626"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782679002","Source__c":"C1850996","Xref__c":"782679002"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:136480","Feature__r":{"HPO_Description__c":"Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025404","HPO_Name__c":"Abnormal visual fixation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136480","Feature__r":{"HPO_Description__c":"Reduced ability to move the eye in the direction of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000542","HPO_Name__c":"Impaired ocular adduction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136480","Feature__r":{"HPO_Description__c":"Decreased strength of the superior oblique muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025592","HPO_Synonym__c":"Superior oblique palsy","HPO_Name__c":"Superior oblique muscle weakness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136480","Feature__r":{"HPO_Description__c":"An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011514","HPO_Name__c":"Abnormality of binocular vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136480","Feature__r":{"HPO_Description__c":"Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007011","HPO_Synonym__c":"Trochlear nerve palsy","HPO_Name__c":"Fourth cranial nerve palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["hereditary fourth cranial nerve palsy"," strabismus from superior oblique palsy"," superior oblique oculomotor palsy, familial congenital"," trochlear nerve palsy, familial congenital"]}