{"Name":"North Carolina macular dystrophy","DiseaseID__c":"GARD:0009179","id":9179,"encodedName":"north-carolina-macular-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"North Carolina macular dystrophy","Xref_IDs__c":"312925009; C0730294; C168999; C537835; DOID:0070439; MEDGEN:147590; MONDO:0007630; OMIM:136550; ORPHA:75327","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:0007630","Disease_Description__c":"A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.","GARD_Name__c":"North Carolina macular dystrophy","GARD_Synonym__c":"cape dystrophy; caped; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; macular dystrophy 1, north carolina type; macular dystrophy retinal 1 north carolina type; mcdr1; ncmd; north carolina macular dystrophy, retinal 1; progressive foveal dystrophy","Curated_Disease_Description_Source__c":"GARD:0009179","Curated_Disease_Description__c":"North Carolina macular dystrophy (NCMD) is an inherited eye disorder that affects the development of the macula, the small, but important part of the eye located in the center of the retina. The macula allows a person to see fine details and do tasks that require central vision, such as reading and driving. It is also important for seeing colors. The severity of changes in the development of the macula varies, causing some people to have little or no vision loss, while others may have severe vision loss. NCMD is caused by changes in a region of chromosome 6 (MCDR1 locus), as well as in a region of chromosome 5 (MCDR3 locus).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:75327","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007630","ORPHANET_ID__c":"ORPHA:75327","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia macular de carolina del norte","Spanish_Description_Source__c":"ORPHA:75327","Spanish_Description__c":"Es un trastorno macular autosómico dominante no progresivo, congénito o de aparición infantil, que se caracteriza por la pérdida de visión central, la acumulación de drusas en la mácula y atrofia de las células fotorreceptoras con un fenotipo variable en el examen macular.","Spanish_Disease_Name__c":"distrofia macular de carolina del norte","Spanish_GARD_Synonym__c":"caped; distrofia areolar central del epitelio pigmentario; distrofia cape; distrofia foveal progresiva; distrofia macular de la retina tipo carolina del norte; distrofia retiniana central del epitelio pigmentario; mcdr1; ncmd","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":"North Carolina macular dystrophy (NCMD) is an inherited eye disorder that affects the development of the macula, the small, but important part of the eye located in the center of the retina. The macula allows a person to see fine details and do tasks that require central vision, such as reading and driving. It is also important for seeing colors. The severity of changes in the development of the macula varies, causing some people to have little or no vision loss, while others may have severe vision loss. NCMD is caused by changes in a region of chromosome 6 (MCDR1 locus), as well as in a region of chromosome 5 (MCDR3 locus).","Curated_Disease_Description_Source__c":"GARD:0009179","GARD_Synonym__c":"cape dystrophy; caped; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; macular dystrophy 1, north carolina type; macular dystrophy retinal 1 north carolina type; mcdr1; ncmd; north carolina macular dystrophy, retinal 1; progressive foveal dystrophy","Name":"North Carolina macular dystrophy","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":"Childhood","Provided_By__c":"ORPHA:75327"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0730294"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/75327","Source__c":"C0730294; MONDO:0007630; ORPHA:75327","Xref__c":"ORPHA:75327"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070439","Source__c":"MONDO:0007630","Xref__c":"DOID:0070439"},{"URL__c":"https://www.omim.org/entry/136550","Source__c":"C0730294; MONDO:0007630","Xref__c":"OMIM:136550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537835","Source__c":"MONDO:0007630","Xref__c":"C537835"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0730294","Source__c":"C0730294","Xref__c":"C0730294"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=147590","Source__c":"C0730294","Xref__c":"MEDGEN:147590"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=312925009","Source__c":"C0730294; MONDO:0007630","Xref__c":"312925009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007630","Source__c":"GARD:0009179","Xref__c":"MONDO:0007630"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C168999","Source__c":"C0730294","Xref__c":"C168999"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:136550","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136550","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200070","HPO_Name__c":"Peripheral retinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136550","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007754","HPO_Name__c":"Macular dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136550","Feature__r":{"HPO_Description__c":"Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008002","HPO_Synonym__c":"Abnormality of macular pigmentation","HPO_Name__c":"Abnormal macular pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136550","Feature__r":{"HPO_Description__c":"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011510","HPO_Name__c":"Drusen","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:136550","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["cape dystrophy"," caped"," central areolar pigment epithelial dystrophy"," central retinal pigment epithelial dystrophy"," macular dystrophy 1, north carolina type"," macular dystrophy retinal 1 north carolina type"," mcdr1"," ncmd"," north carolina macular dystrophy, retinal 1"," progressive foveal dystrophy"]}