{ "id": 23832, "label": "cardioectodermal syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100080", "properties": { "synonyms": [ "cardio-ectodermal syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease with phenotypic manifestations in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation." }, "isLeaf": false, "isRoot": false, "child_count": 2, "parents": [ { "id": 4370, "label": "syndromic disease", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "child_count": 1182, "reference_id": "MONDO:0002254" } ], "children": [ { "id": 12143, "label": "Naxos disease", "isLeaf": true, "isRoot": false, "parents": [ 6933, 7611, 17077, 23832 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080551", "GARD:0009795", "MEDGEN:321991", "MESH:C538346", "OMIM:601214", "Orphanet:34217", "SCTID:715535009", "UMLS:C1832600", "icd11.foundation:633516876" ], "synonyms": [ "KWWH type I", "NAXOS disease", "NXD", "Naxos disease", "keratoderma with woolly hair type I", "keratoderma with wooly hair type I", "keratosis palmoplantaris with arrythmogenic cardiomyopathy", "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy", "palmoplantar keratoderma with arrythmogenic cardiomyopathy", "Mal De Naxos", "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities", "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair", "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair", "keratosis palmoplantaris with arrhythmogenic cardiomyopathy", "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair", "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair", "woolly hair palmoplantar keratoderma cardiac abnormalities", "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities", "wooly hair palmoplantar keratoderma cardiac abnormalities", "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma." }, "child_count": 0, "reference_id": "MONDO:0011017" }, { "id": 12677, "label": "arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "isLeaf": true, "isRoot": false, "parents": [ 19138, 23832 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090128", "GARD:0005595", "MEDGEN:340124", "MESH:C535581", "OMIM:605676", "Orphanet:65282", "SCTID:719835006", "UMLS:C1854063" ], "synonyms": [ "Carvajal syndrome", "DCWHK", "KWWH type II", "arrhythmogenic cardiomyopathy with wooly hair and keratoderma", "dilated cardiomyopathy with wooly hair and keratoderma", "keratoderma with woolly hair type II", "keratoderma with wooly hair type II", "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair", "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair", "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome", "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome", "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome", "cardiomyopathy dilated with woolly hair and keratoderma", "cardiomyopathy dilated with wooly hair and keratoderma", "cardiomyopathy, dilated, with woolly hair and keratoderma", "cardiomyopathy, dilated, with wooly hair and keratoderma", "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy", "epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy", "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy", "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome", "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy", "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features." }, "child_count": 0, "reference_id": "MONDO:0011581" } ], "roots": [ { "id": 4370, "label": "syndromic disease" } ] }