{"Name":"Choroidal atrophy-alopecia syndrome","DiseaseID__c":"GARD:0003704","id":3704,"encodedName":"choroidal-atrophy-alopecia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Choroidal atrophy-alopecia syndrome","Xref_IDs__c":"720850008; C2931026; C535810; MEDGEN:419316; MONDO:0015428; ORPHA:1433","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015428","Disease_Description__c":"A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.","GARD_Name__c":"Choroidal atrophy-alopecia syndrome","GARD_Synonym__c":"choroidal atrophy and alopecia syndrome; moloney syndrome; regional choroidal atrophy and alopecia","Curated_Disease_Description_Source__c":"MONDO:0015428","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1433","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015428","ORPHANET_ID__c":"ORPHA:1433","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de atrofia coroidea-alopecia","Spanish_Description_Source__c":"ORPHA:1433","Spanish_Description__c":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de atrofia coroidea (a veces regional), junto con otros rasgos de displasia ectodérmica que incluyen cabello fino y escaso, ausencia o disminución de pestañas y cejas, y posible pérdida visual leve y uñas displásicas/engrosadas/estriadas.","Spanish_Disease_Name__c":"síndrome de atrofia coroidea-alopecia","Spanish_GARD_Synonym__c":"atrofia coroidea y alopecia regionales; síndrome de moloney","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":"A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.","Curated_Disease_Description_Source__c":"MONDO:0015428","GARD_Synonym__c":"choroidal atrophy and alopecia syndrome; moloney syndrome; regional choroidal atrophy and alopecia","Name":"Choroidal atrophy-alopecia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Foundation for Ectodermal Dysplasias","Website__c":"https://www.nfed.org/"}],"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1433"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1433","Source__c":"C2931026; MONDO:0015428; ORPHA:1433","Xref__c":"ORPHA:1433"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720850008","Source__c":"C2931026; MONDO:0015428","Xref__c":"720850008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931026","Source__c":"C2931026","Xref__c":"C2931026"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535810","Source__c":"MONDO:0015428","Xref__c":"C535810"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419316","Source__c":"C2931026","Xref__c":"MEDGEN:419316"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015428","Source__c":"GARD:0003704","Xref__c":"MONDO:0015428"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Middle ear is filled with glue-like fluid instead of air.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040262","HPO_Name__c":"Glue ear","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of more than two nipples.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002558","HPO_Synonym__c":"accessory mamilla; Accessory nipple; Increased nipple number","HPO_Name__c":"Supernumerary nipple","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100804","HPO_Synonym__c":"Koenen tumor; Koenen's tumor; Parungual fibromas; Periungual fibroma","HPO_Name__c":"Ungual fibroma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008388","HPO_Synonym__c":"Abnormality of the toenail; Abnormality of the toenails","HPO_Name__c":"Abnormal toenail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","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:1433","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000968","HPO_Name__c":"Ectodermal dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200102","HPO_Synonym__c":"Sparse or absent eyelashes","HPO_Name__c":"Sparse or absent eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Longitudinal, linear prominences in the fingernail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008402","HPO_Synonym__c":"Longitudinally grooved fingernails; Ridged fingernail","HPO_Name__c":"Ridged fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045074","HPO_Synonym__c":"Thin eyebrow; Thin eyebrows","HPO_Name__c":"Thin eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007791","HPO_Name__c":"Patchy atrophy of the retinal pigment epithelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","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:1433","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A digit with two nails, with at least some soft tissue between them.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010793","HPO_Synonym__c":"duplicated nail; Notched nail","HPO_Name__c":"Bifid nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Retinal","Pediatrics"],"Account":["Dermatology","Retinal","Ectodermal dysplasia"]},"synonyms":["choroidal atrophy and alopecia syndrome"," moloney syndrome"," regional choroidal atrophy and alopecia"]}