{"Name":"Francois syndrome","DiseaseID__c":"GARD:0001815","id":1815,"encodedName":"francois-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Francois syndrome","Xref_IDs__c":"254150007; C0432288; C535375; MEDGEN:98151; MONDO:0009094; OMIM:221800; ORPHA:79149","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009094","Disease_Description__c":"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.","GARD_Name__c":"Francois syndrome","GARD_Synonym__c":"dermochondrocorneal dystrophy; dermochondrocorneal dystrophy of françois; franc'ois syndrome; françois syndrome","Curated_Disease_Description_Source__c":"MONDO:0009094","Curated_Disease_Description__c":"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79149","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009094","ORPHANET_ID__c":"ORPHA:79149","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia dermo-condro-coneal","Spanish_Description_Source__c":"ORPHA:79149","Spanish_Description__c":"La distrofia dermocondrocorneal se caracteriza por: osteocondrodistrofia de las manos y los pies, distrofia corneal y presencia de nódulos en la piel agrupados alrededor de las articulaciones metacarpofalángicas e interfalángicas, de la nariz y de las orejas y en la superficie posterior del codo. Las lesiones gingivales también pueden estar presentes. Se ha descrito en menos de 20 pacientes. La transmisión es autosómica recesiva.","Spanish_Disease_Name__c":"distrofia dermo-condro-coneal","Spanish_GARD_Synonym__c":"síndrome de françois","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":"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009094","GARD_Synonym__c":"dermochondrocorneal dystrophy; dermochondrocorneal dystrophy of françois; franc'ois syndrome; françois syndrome","Name":"Francois 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":"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":"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:79149"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535375","Source__c":"MONDO:0009094","Xref__c":"C535375"},{"URL__c":"https://www.omim.org/entry/221800","Source__c":"C0432288; MONDO:0009094; ORPHA:79149","Xref__c":"OMIM:221800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98151","Source__c":"C0432288","Xref__c":"MEDGEN:98151"},{"URL__c":"https://www.orpha.net/en/disease/detail/79149","Source__c":"C0432288; MONDO:0009094; ORPHA:79149","Xref__c":"ORPHA:79149"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432288","Source__c":"C0432288","Xref__c":"C0432288"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254150007","Source__c":"C0432288; MONDO:0009094","Xref__c":"254150007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009094","Source__c":"GARD:0001815","Xref__c":"MONDO:0009094"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001176","HPO_Synonym__c":"Disproportionately large hands; large hand; Large hands","HPO_Name__c":"Large hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000991","HPO_Synonym__c":"Xanthomata; Yellow bumps of fatty deposits on skin","HPO_Name__c":"Xanthomatosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79149","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"}},{"Provided_By__c":"ORPHA:79149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79149","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality affecting one or both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001155","HPO_Synonym__c":"Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities","HPO_Name__c":"Abnormality of the hand","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology"]},"synonyms":["dermochondrocorneal dystrophy"," dermochondrocorneal dystrophy of françois"," franc'ois syndrome"," françois syndrome"]}