{"Name":"Jalili syndrome","DiseaseID__c":"GARD:0001463","id":1463,"encodedName":"jalili-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Jalili syndrome","Xref_IDs__c":"707608003; C000596385; C3495589; DOID:0111404; MEDGEN:501210; MONDO:0009007; OMIM:217080; ORPHA:1873","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009007","Disease_Description__c":"Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).","GARD_Name__c":"Jalili syndrome","GARD_Synonym__c":"amelogenesis imperfecta co-occurrent with cone rod dystrophy; cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy and amelogenesis imperfecta","Curated_Disease_Description_Source__c":"MONDO:0009007","Curated_Disease_Description__c":"Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1873","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009007","ORPHANET_ID__c":"ORPHA:1873","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de jalili","Spanish_Description_Source__c":"ORPHA:1873","Spanish_Description__c":"El síndrome de Jalili se caracteriza por la asociación de amelogénesis imperfecta (AI; ver este término) y distrofia de conos y bastones (CRDs; ver este término).","Spanish_Disease_Name__c":"síndrome de jalili","Spanish_GARD_Synonym__c":"distrofia de conos y bastones-amelogénesis imperfecta","Category_Linearization__c":"ORPHA:93890","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":"Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).","Curated_Disease_Description_Source__c":"MONDO:0009007","GARD_Synonym__c":"amelogenesis imperfecta co-occurrent with cone rod dystrophy; cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy and amelogenesis imperfecta","Name":"Jalili syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Odontology","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":"Childhood","Provided_By__c":"ORPHA:1873"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3495589"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001463","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111404","Source__c":"MONDO:0009007","Xref__c":"DOID:0111404"},{"URL__c":"https://www.orpha.net/en/disease/detail/1873","Source__c":"C3495589; MONDO:0009007; ORPHA:1873","Xref__c":"ORPHA:1873"},{"URL__c":"https://www.omim.org/entry/217080","Source__c":"C3495589; MONDO:0009007; ORPHA:1873","Xref__c":"OMIM:217080"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3495589","Source__c":"C3495589","Xref__c":"C3495589"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=707608003","Source__c":"C3495589; MONDO:0009007","Xref__c":"707608003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000596385","Source__c":"MONDO:0009007","Xref__c":"C000596385"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501210","Source__c":"C3495589","Xref__c":"MEDGEN:501210"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009007","Source__c":"GARD:0001463","Xref__c":"MONDO:0009007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CNNM4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental dysplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000705","HPO_Name__c":"Amelogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1873","HPO_Frequency__c":"Very frequent (80-99%)","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:1873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect of tooth color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011073","HPO_Synonym__c":"Abnormality of dental color; Abnormality of dental shade; Abnormality of tooth color; Abnormality of tooth shade","HPO_Name__c":"Abnormality of dental color","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1873","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"}},{"Provided_By__c":"ORPHA:1873","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1873","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:1873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1873","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:1873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Odontology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["amelogenesis imperfecta co-occurrent with cone rod dystrophy"," cone rod dystrophy-amelogenesis imperfecta syndrome"," cone-rod dystrophy and amelogenesis imperfecta"]}