{ "id": 16218, "label": "hereditary neoplastic syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015356", "properties": { "xrefs": [ "GARD:0019921", "MEDGEN:14326", "MESH:D009386", "NCIT:C3266", "Orphanet:140162", "SCTID:699346009", "UMLS:C0027672" ], "synonyms": [ "cancer syndrome, hereditary", "cancer syndromes, hereditary", "familial neoplastic syndrome", "familial tumor syndrome", "familial tumour syndrome", "hereditary cancer syndrome", "hereditary cancer syndromes", "hereditary neoplastic syndrome", "hereditary neoplastic syndromes", "hereditary tumor syndrome", "hereditary tumour syndrome", "inherited cancer syndrome", "inherited cancer-predisposing syndrome", "neoplastic syndrome, hereditary", "syndrome, hereditary cancer", "syndrome, hereditary neoplastic", "syndromes, hereditary cancer", "syndromes, hereditary neoplastic" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The inherited predisposition toward getting a tumor." }, "isLeaf": false, "isRoot": false, "child_count": 117, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 20011, "label": "inherited disease susceptibility", "isLeaf": false, "isRoot": false, "parents": [ 23063 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:Z15", "MEDGEN:1876499", "MESH:D020022", "UMLS:C1455997" ], "synonyms": [ "hereditary disease susceptibility", "hereditary predisposition to disease", "genetic predisposition", "genetic predispositions", "genetic susceptibilities", "genetic susceptibility", "predisposition, genetic", "predispositions, genetic", "susceptibilities, genetic", "susceptibility, genetic" ], "definition": "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." }, "child_count": 284, "reference_id": "MONDO:0020573" }, { "id": 20301, "label": "neoplastic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 21214 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:362147", "NCIT:C54705", "UMLS:C1882062" ], "synonyms": [ "cancer-related syndrome", "neoplastic syndrome", "tumor syndrome", "tumour syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired." }, "child_count": 22, "reference_id": "MONDO:0021058" } ], "children": [ { "id": 2740, "label": "mosaic variegated aneuploidy syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218, 18950 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080688", "GARD:0003007", "ICD9:758.89", "MEDGEN:1641418", "MESH:C536987", "OMIMPS:257300", "Orphanet:1052", "SCTID:700056005", "UMLS:C4551972", "icd11.foundation:398235351" ], "synonyms": [ "Warburton-Anyane-Yeboa syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." }, "child_count": 14, "reference_id": "MONDO:0000141" }, { "id": 3921, "label": "tuberous sclerosis", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13515", "GARD:0007830", "ICD10CM:Q85.1", "ICD9:759.5", "MEDGEN:22518", "MESH:D014402", "MedDRA:10045138", "NANDO:1200607", "NANDO:2200826", "NCIT:C3424", "NORD:1802", "OMIMPS:191100", "Orphanet:805", "SCTID:7199000", "UMLS:C0041341", "icd11.foundation:1903085809" ], "synonyms": [ "Bourneville disease", "Bourneville syndrome", "Bourneville's disease", "Bourneville's syndrome", "TSC", "epiloia", "tuberous sclerosis", "tuberous sclerosis complex", "tuberous sclerosis syndrome", "adenoma sebaceum", "adenoma sebaceum syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade." }, "child_count": 8, "reference_id": "MONDO:0001734" }, { "id": 5478, "label": "hereditary breast ovarian cancer syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5683", "GARD:0015010", "MEDGEN:151793", "MESH:D061325", "NCIT:C8493", "NORD:1936", "Orphanet:145", "SCTID:718220008", "UMLS:C0677776", "icd11.foundation:1258896144" ], "synonyms": [ "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)", "Hereditary Breast and Ovarian Cancer Syndrome", "familial breast and ovarian cancer syndrome", "familial breast/ovarian cancer (BRCA1, BRCA2)", "hereditary breast and ovarian cancer", "hereditary breast and ovarian cancer syndrome", "hereditary breast ovarian cancer syndrome", "hereditary breast/ovarian cancer (BRCA1, BRCA2)", "HBOC syndrome", "HBOC syndromes", "hereditary breast ovarian cancer", "syndrome, HBOC", "syndromes, HBOC" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer." }, "child_count": 4, "reference_id": "MONDO:0003582" }, { "id": 7164, "label": "hereditary multiple osteochondromas", "isLeaf": false, "isRoot": false, "parents": [ 4304, 16218, 18958, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:206", "GARD:0007035", "MEDGEN:4612", "MESH:D005097", "NANDO:2200049", "NANDO:2201014", "NANDO:2201015", "NCIT:C5183", "NORD:1233", "OMIMPS:133700", "Orphanet:321", "SCTID:254044004", "SCTID:716742001", "UMLS:C0015306", "icd11.foundation:146330302", "icd11.foundation:1578364807" ], "synonyms": [ "Bessel-Hagen disease", "exostoses, multiple", "multiple cartilaginous exostoses", "osteochondromatosis syndrome", "osteochondromatosis syndrome (disorder) [ambiguous]", "hereditary multiple exostoses 1", "hereditary multiple exostoses 2", "hereditary multiple exostoses 3", "EXT", "HMO", "hereditary multiple exostoses", "hereditary multiple exostosis", "multiple exostoses" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." }, "child_count": 12, "reference_id": "MONDO:0005508" }, { "id": 8594, "label": "nevoid basal cell carcinoma syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218, 19507, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070365", "DOID:2512", "GARD:0007166", "MEDGEN:2554", "MESH:D001478", "MedDRA:10062804", "NANDO:2200828", "NCIT:C2892", "NORD:1507", "OMIMPS:109400", "Orphanet:377", "SCTID:69408002", "UMLS:C0004779", "icd11.foundation:1012745138" ], "synonyms": [ "Gorlin syndrome", "Gorlin-Goltz syndrome", "NBCCS", "basal cell nevus syndrome", "multiple basal cell carcinomas", "nevoid basal cell cancer syndrome", "nevoid basal cell carcinoma syndrome", "BCNS", "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities." }, "child_count": 10, "reference_id": "MONDO:0007187" }, { "id": 8596, "label": "leukemia, chronic lymphocytic, susceptibility to, 2", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027774", "MEDGEN:358385", "OMIM:109543", "UMLS:C1868683" ], "synonyms": [ "leukemia, chronic lymphocytic, susceptibility to, 2", "leukemia, chronic lymphocytic, susceptibility to, type 2", "B-cell malignancy, low-grade", "Clls2", "disrupted in B-cell malignancy", "leukemia, chronic lymphocytic, B-cell" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007190" }, { "id": 8608, "label": "blue rubber bleb nevus", "isLeaf": true, "isRoot": false, "parents": [ 16218, 19142, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005940", "MEDGEN:83401", "MESH:C536240", "NANDO:2201027", "NCIT:C4486", "NORD:865", "OMIM:112200", "Orphanet:1059", "SCTID:254784002", "UMLS:C0346072" ], "synonyms": [ "BRBN", "BRBNS", "Blue Rubber Bleb Nevus syndrome", "bean syndrome", "blue rubber bleb nevus", "blue rubber bleb nevus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia." }, "child_count": 0, "reference_id": "MONDO:0007203" }, { "id": 8714, "label": "cherubism", "isLeaf": false, "isRoot": false, "parents": [ 2903, 6893, 16089, 16218, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1856", "GARD:0006036", "ICD9:526.89", "MEDGEN:40219", "MESH:D002636", "MedDRA:10070535", "NANDO:2200444", "NCIT:C84630", "OMIM:118400", "Orphanet:184", "SCTID:76098004", "UMLS:C0008029", "icd11.foundation:1729261719" ], "synonyms": [ "CRBM", "cherubism", "familial fibrous dysplasia of the jaws", "familial multilocular cystic disease of the jaws", "Crbm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." }, "child_count": 6, "reference_id": "MONDO:0007315" }, { "id": 8915, "label": "Beckwith-Wiedemann syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218, 19480, 21518 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5572", "GARD:0003343", "ICD9:759.89", "MEDGEN:2562", "MESH:D001506", "MedDRA:10050344", "NANDO:2200959", "NCIT:C34415", "NORD:845", "OMIM:130650", "Orphanet:116", "SCTID:81780002", "UMLS:C0004903", "icd11.foundation:803086260" ], "synonyms": [ "BWS", "Beckwith-Wiedemann syndrome", "Wiedemann-Beckwith syndrome", "exomphalos-macroglossia-gigantism syndrome", "Beckwith-Wiedemann syndrome chromosome region", "EMG syndrome", "Wiedemann-Beckwith syndrome (WBS)", "exomphalos macroglossia gigantism syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." }, "child_count": 24, "reference_id": "MONDO:0007534" }, { "id": 8945, "label": "multiple self-healing squamous epithelioma", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5585", "GARD:0003090", "MEDGEN:154270", "MESH:C536150", "NCIT:C4461", "OMIM:132800", "Orphanet:65748", "SCTID:254659009", "UMLS:C0546476" ], "synonyms": [ "Ferguson-Smith disease", "Ferguson-Smith syndrome", "Ferguson-Smith tumor", "Ferguson-Smith tumour", "MSSE", "familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type", "multiple keratoacanthoma, Ferguson-Smith type", "multiple self healing epithelioma of Ferguson-Smith", "multiple self-healing squamous epithelioma", "self-healing squamous epithelioma type 1", "ESS1", "ESS1 (formerly)", "ESS1, formerly", "Ferguson-Smith type epithelioma", "Ferguson-Smith-type epithelioma", "multiple self healing squamous epithelioma", "multiple self-healing squamous epithelioma, susceptibility to" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars." }, "child_count": 0, "reference_id": "MONDO:0007566" }, { "id": 8951, "label": "erythroleukemia, familial, susceptibility to", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027777", "ICD9:207.0", "MEDGEN:1790819", "MESH:C565039", "OMIM:133180", "UMLS:C5552985" ], "synonyms": [ "erythroleukemia, familial, susceptibility to", "hereditary acute erythroid leukaemia", "hereditary acute erythroid leukemia", "Di Guglielmo disease, familial", "ERYTHROLEUKEMIA, familial", "acute erythroleukemia, familial", "leukemia, acute myelogenous, M6" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene." }, "child_count": 0, "reference_id": "MONDO:0007573" }, { "id": 9038, "label": "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors", "isLeaf": true, "isRoot": false, "parents": [ 2848, 16218, 23957 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017278", "ICD9:240.0", "MEDGEN:86230", "MESH:C562732", "OMIM:138800", "Orphanet:276399", "SCTID:267369002", "UMLS:C0302859" ], "synonyms": [ "euthyroid goiter", "euthyroid goitre", "simple goiter", "simple goitre", "FMNG", "MNG1", "familial MNG", "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors", "goiter, nontoxic, with Intrathyroidal calcification", "multinodular goiter, adolescent" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene." }, "child_count": 0, "reference_id": "MONDO:0007681" }, { "id": 9117, "label": "hyperparathyroidism 2 with jaw tumors", "isLeaf": true, "isRoot": false, "parents": [ 16218, 16897, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010829", "MEDGEN:310065", "NCIT:C48287", "OMIM:145001", "Orphanet:99880", "SCTID:702378002", "UMLS:C1704981" ], "synonyms": [ "HPT-JT", "hyperparathyroidism 2 with jaw tumors", "hyperparathyroidism type 2", "hyperparathyroidism-2", "hyperparathyroidism-jaw tumor syndrome", "hyperparathyroidism-jaw tumour syndrome", "parathyroid adenoma with cystic changes", "HRPT2", "familial primary hyperparathyroidism with multiple ossifying jaw fibromas", "hereditary hyperparathyroidism-jaw tumor syndrome", "hereditary hyperparathyroidism-jaw tumour syndrome", "hyperparathyroidism 2", "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas", "hyperparathyroidism-jaw tumor syndrome, hereditary", "hyperparathyroidism-jaw tumour syndrome, hereditary", "parathyroid adenomatosis, familial cystic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." }, "child_count": 0, "reference_id": "MONDO:0007768" }, { "id": 9181, "label": "Kaposi sarcoma, susceptibility to", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027781", "MEDGEN:761233", "OMIM:148000", "UMLS:C3538945" ], "synonyms": [ "Kaposi sarcoma, susceptibility to", "multicentric Castleman disease, susceptibility to", "multiple idiopathic pigmented hemangiosarcoma, susceptibility to", "susceptibility to Kaposi sarcoma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007845" }, { "id": 9224, "label": "hereditary leiomyomatosis and renal cell cancer", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010096", "MEDGEN:353771", "MESH:C535516", "NCIT:C51302", "NORD:1231", "OMIM:150800", "Orphanet:523", "UMLS:C1708350", "icd11.foundation:754002573" ], "synonyms": [ "HLRCC", "Hereditary Leiomyomatosis and Renal Cell Carcinoma", "MCUL", "Reed syndrome", "familial leiomyomatosis", "familial leiomyomatosis and renal cell cancer", "familial leiomyomatosis cutis et uteri", "familial leiomyomatosis with renal carcinoma", "familial multiple cutaneous leiomyomas", "hereditary leiomyomatosis", "hereditary leiomyomatosis and renal cell cancer", "hereditary leiomyomatosis and renal cell cancer syndrome", "hereditary leiomyomatosis and renal cell carcinoma", "hereditary leiomyomatosis with renal carcinoma", "hereditary multiple cutaneous leiomyomas", "leiomyomatosis and renal cell cancer", "multiple cutaneous and uterine leiomyomas", "LRCC", "Reed's syndrome", "leiomyoma, multiple cutaneous", "leiomyomatosis and renal cell cancer, hereditary", "leiomyomatosis familial", "multiple cutaneous and uterine leiomyomata", "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma", "multiple cutaneous leiomyomata" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer." }, "child_count": 0, "reference_id": "MONDO:0007888" }, { "id": 9294, "label": "susceptibility to uveal melanoma", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027784" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0007966" }, { "id": 9295, "label": "melanoma and neural system tumor syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111511", "GARD:0008468", "MEDGEN:331890", "MESH:C536149", "NCIT:C176905", "OMIM:155755", "Orphanet:252206", "SCTID:717968005", "UMLS:C1835042" ], "synonyms": [ "melanoma and neural system tumor syndrome", "melanoma-astrocytoma syndrome", "melanoma astrocytoma syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)." }, "child_count": 0, "reference_id": "MONDO:0007967" }, { "id": 9390, "label": "nasopharyngeal carcinoma, susceptibility to, 2", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027785", "MEDGEN:413336", "OMIM:161550", "UMLS:C2750548" ], "synonyms": [ "nasopharyngeal carcinoma, susceptibility to, 2", "nasopharyngeal carcinoma, susceptibility to, type 2", "NPCA2", "Npca2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0008067" }, { "id": 9956, "label": "WAGR syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218, 17316, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:35", "DOID:14515", "GARD:0005528", "MEDGEN:64512", "MESH:D017624", "NCIT:C3718", "NORD:1833", "OMIM:194072", "Orphanet:893", "SCTID:715215007", "UMLS:C0206115", "icd11.foundation:1858307812" ], "synonyms": [ "11p partial monosomy syndrome", "Del(11)(p13)", "WAGR 11p13 deletion syndrome", "WAGR Syndrome/11p Deletion Syndrome", "WAGR syndrome", "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome", "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation", "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome", "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome", "chromosome 11p13 deletion syndrome", "deletion 11p13", "monosomy 11p13", "11p deletion", "11p deletion syndrome", "11p monosomy", "AGR triad", "WAGR", "WAGR Complex", "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome", "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome", "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome", "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome", "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome", "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome", "chromosome 11P13 deletion syndrome", "chromosome 11p deletion", "chromosome 11p deletion syndrome", "deletion 11p", "monosomy 11p", "partial monosomy 11p" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." }, "child_count": 3, "reference_id": "MONDO:0008681" }, { "id": 10952, "label": "neuroblastoma, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027791", "MEDGEN:412713", "OMIM:256700", "UMLS:C2749485" ], "synonyms": [ "neuroblastoma, susceptibility to", "susceptibility to neuroblastoma", "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0009741" }, { "id": 11197, "label": "Rothmund-Thomson syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218, 16625, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2732", "GARD:0004392", "ICD9:759.89", "MEDGEN:10819", "MESH:D011038", "NANDO:1200671", "NCIT:C3335", "NORD:1678", "OMIMPS:268400", "Orphanet:2909", "SCTID:69093006", "UMLS:C0032339", "icd11.foundation:652761118" ], "synonyms": [ "RTS", "Rothmund-Thomson syndrome", "poikiloderma of Rothmund-Thomson", "poikiloderma atrophicans and cataract", "poikiloderma congenitale" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." }, "child_count": 12, "reference_id": "MONDO:0010002" }, { "id": 11341, "label": "mismatch repair cancer syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 16218, 22228, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000420", "MEDGEN:1748029", "MESH:C536928", "NORD:1805", "OMIM:276300", "SCTID:61665008", "UMLS:C5399763" ], "synonyms": [ "BTP1 syndrome", "MLH1-related constitutional mismatch repair deficiency syndrome", "MMRCS1", "Turcot Syndrome", "brain tumor-polyposis syndrome 1", "mismatch repair cancer syndrome 1", "CNS tumors with familial polyposis of the colon", "CNS tumours with familial polyposis of the colon", "MMR deficiency", "MMRCS", "Turcot syndrome", "brain tumor-polyposis syndrome", "childhood cancer syndrome", "glioma-polyposis syndrome", "malignant tumors of the central nervous system associated with familial polyposis of the colon", "malignant tumours of the central nervous system associated with familial polyposis of the colon", "mismatch repair cancer syndrome", "mismatch repair deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis." }, "child_count": 0, "reference_id": "MONDO:0010159" }, { "id": 11675, "label": "Wiskott-Aldrich syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2902, 16075, 16218, 20411 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9169", "GARD:0007895", "ICD10CM:D82.0", "ICD9:279.12", "MEDGEN:21921", "MESH:D014923", "MedDRA:10047992", "NANDO:1200330", "NANDO:2200704", "NCIT:C3448", "OMIM:301000", "Orphanet:906", "SCTID:36070007", "UMLS:C0043194", "icd11.foundation:168952525" ], "synonyms": [ "WAS", "Wiskott Aldrich syndrome", "Wiskott-Aldrich syndrome", "Wiskott-Aldrich syndrome 1", "Wiskott-Aldrich syndrome, X-linked recessive", "eczema-thrombocytopenia-immunodeficiency syndrome", "immunodeficiency 2", "Aldrich syndrome", "Imd 2", "eczema thrombocytopenia immunodeficiency syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." }, "child_count": 0, "reference_id": "MONDO:0010518" }, { "id": 11830, "label": "N syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050769", "GARD:0003902", "MEDGEN:424834", "MESH:C536108", "OMIM:310465", "Orphanet:2608", "SCTID:723410002", "UMLS:C2936859", "icd11.foundation:2040480507" ], "synonyms": [ "N syndrome", "NSX", "intellectual disability, malformations, chromosome breakage, and development of T-cell leukaemia", "intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia", "mental retardation, malformations, chromosome breakage, and development of T-cell leukaemia", "mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity." }, "child_count": 0, "reference_id": "MONDO:0010686" }, { "id": 12197, "label": "hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010352", "MESH:C563324", "NCIT:C162696", "Orphanet:71290", "SCTID:725034002" ], "synonyms": [ "hereditary thrombocytopenia and hematologic cancer predisposition syndrome", "familial platelet syndrome with predisposition to acute myelogenous leukaemia", "familial thrombocytopenia with propensity to acute myelogenous leukaemia", "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes." }, "child_count": 4, "reference_id": "MONDO:0011071" }, { "id": 12471, "label": "prostate cancer/brain cancer susceptibility", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027800", "MEDGEN:400334", "OMIM:603688", "UMLS:C1863600" ], "synonyms": [ "prostate cancer/brain cancer susceptibility", "prostate cancer/brain cancer susceptibility, somatic", "Capb", "Pcbc" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011361" }, { "id": 12612, "label": "Brooke-Spiegler syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050693", "GARD:0010179", "ICD9:239.2", "MEDGEN:346703", "NCIT:C205541", "OMIM:605041", "Orphanet:79493", "SCTID:703531009", "UMLS:C1857941" ], "synonyms": [ "Brooke-Spiegler syndrome", "CYLD cutaneous syndrome", "BRSS", "Bss", "Spiegler-Brooke syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma." }, "child_count": 4, "reference_id": "MONDO:0011512" }, { "id": 12826, "label": "pancreatic cancer, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027805", "MEDGEN:339739", "OMIM:606856", "UMLS:C1847351" ], "synonyms": [ "PALLD familial pancreatic carcinoma", "familial pancreatic carcinoma caused by mutation in PALLD", "pancreatic cancer, susceptibility to, 1", "pancreatic cancer, susceptibility to, type 1", "Pnca1", "susceptibility to pancreatic cancer 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." }, "child_count": 0, "reference_id": "MONDO:0011739" }, { "id": 12827, "label": "Carney-Stratakis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16050, 16218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080533", "GARD:0010643", "MEDGEN:376098", "MESH:C564650", "NCIT:C94831", "OMIM:606864", "Orphanet:97286", "SCTID:722377004", "UMLS:C1847319" ], "synonyms": [ "Carney dyad", "Carney-Stratakis dyad", "Carney-Stratakis syndrome", "gist-paraganglioma dyad", "paraganglioma and gastric stromal sarcoma", "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma", "paraganglioma and gastrointestinal stromal tumor", "paraganglioma and gastrointestinal stromal tumour", "paraganglioma and gist" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites." }, "child_count": 0, "reference_id": "MONDO:0011740" }, { "id": 12859, "label": "nasopharyngeal carcinoma, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027806", "MEDGEN:339597", "OMIM:607107", "UMLS:C1846758" ], "synonyms": [ "TP53 nasopharyngeal carcinoma", "nasopharyngeal carcinoma 1", "nasopharyngeal carcinoma caused by mutation in TP53", "nasopharyngeal carcinoma, somatic", "nasopharyngeal carcinoma, susceptibility to, 1", "NPC", "Npca", "nasopharyngeal cancer", "nasopharyngeal carcinoma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." }, "child_count": 0, "reference_id": "MONDO:0011775" }, { "id": 13005, "label": "ovarian cancer, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027808", "MEDGEN:390836", "OMIM:607893", "UMLS:C2675601" ], "synonyms": [ "OVCAS1", "ovarian cancer, susceptibility to", "ovarian cancer, susceptibility to, 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011931" }, { "id": 13197, "label": "colorectal cancer, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027810", "MEDGEN:324734", "OMIM:608812", "UMLS:C1837315" ], "synonyms": [ "GALNT12 colorectal cancer", "colorectal cancer caused by mutation in GALNT12", "colorectal cancer, susceptibility to, 1", "colorectal cancer, susceptibility to, type 1", "CRCS1", "colorectal adenoma and cancer, susceptibility to", "colorectal cancer, susceptibility to, on chromosome 9", "susceptibility to colorectal cancer 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." }, "child_count": 0, "reference_id": "MONDO:0012132" }, { "id": 13222, "label": "lung cancer susceptibility 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027811", "MEDGEN:373250", "OMIM:608935", "UMLS:C1837089" ], "synonyms": [ "LNCR1", "lung cancer susceptibility", "lung cancer susceptibility 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012159" }, { "id": 13374, "label": "leukemia, chronic lymphocytic, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027813", "MEDGEN:351271", "OMIM:609630", "UMLS:C1864995" ], "synonyms": [ "leukemia, chronic lymphocytic, susceptibility to, 1", "leukemia, chronic lymphocytic, susceptibility to, type 1", "Clls1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012318" }, { "id": 13596, "label": "Kostmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218, 21772 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112133", "GARD:0000302", "MEDGEN:1713491", "MESH:C537592", "NCIT:C166153", "OMIM:610738", "Orphanet:99749", "UMLS:C5235141", "icd11.foundation:421553273" ], "synonyms": [ "infantile agranulocytosis", "neutropenia, severe congenital 3, autosomal recessive", "severe congenital neutropenia type 3", "Kostmann disease", "SCN3", "agranulocytosis infantile", "agranulocytosis, infantile", "neutropenia, severe congenital, 3, autosomal recessive", "severe congenital neutropenia autosomal recessive 3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients." }, "child_count": 0, "reference_id": "MONDO:0012548" }, { "id": 13713, "label": "colorectal cancer, susceptibility to, 2", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027815", "MEDGEN:369417", "OMIM:611469", "UMLS:C1969113" ], "synonyms": [ "CRCS2", "colorectal cancer, susceptibility to, 2", "colorectal cancer, susceptibility to, on chromosome 8Q24" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012673" }, { "id": 13860, "label": "colorectal cancer, susceptibility to, 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027816", "MEDGEN:436866", "OMIM:612229", "UMLS:C2677123" ], "synonyms": [ "SMAD7 colorectal cancer", "colorectal cancer caused by mutation in SMAD7", "colorectal cancer, susceptibility to, 3", "colorectal cancer, susceptibility to, type 3", "CRCS3", "colorectal cancer, susceptibility to, on chromosome 18", "susceptibility to colorectal cancer 3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene." }, "child_count": 0, "reference_id": "MONDO:0012820" }, { "id": 13861, "label": "colorectal cancer, susceptibility to, 5", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027817", "MEDGEN:393664", "OMIM:612230", "UMLS:C2677122" ], "synonyms": [ "CRCS5", "colorectal cancer, susceptibility to, 5", "colorectal cancer, susceptibility to, on chromosome 10" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012821" }, { "id": 13862, "label": "colorectal cancer, susceptibility to, 6", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027818", "MEDGEN:436865", "OMIM:612231", "UMLS:C2677121" ], "synonyms": [ "CRCS6", "colorectal cancer, susceptibility to, 6", "colorectal cancer, susceptibility to, on chromosome 8Q23" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012822" }, { "id": 13863, "label": "colorectal cancer, susceptibility to, 7", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027819", "MEDGEN:394209", "OMIM:612232", "UMLS:C2677120" ], "synonyms": [ "CRCS7", "colorectal cancer, susceptibility to, 7", "colorectal cancer, susceptibility to, on chromosome 11" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012823" }, { "id": 13974, "label": "leukemia, chronic lymphocytic, susceptibility to, 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027822", "MEDGEN:382621", "OMIM:612557", "UMLS:C2675516" ], "synonyms": [ "leukemia, chronic lymphocytic, susceptibility to, 3", "leukemia, chronic lymphocytic, susceptibility to, type 3", "Clls3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012934" }, { "id": 13975, "label": "leukemia, chronic lymphocytic, susceptibility to, 4", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027823", "MEDGEN:382620", "OMIM:612558", "UMLS:C2675515" ], "synonyms": [ "leukemia, chronic lymphocytic susceptibility to, 4", "leukemia, chronic lymphocytic, susceptibility to, 4", "leukemia, chronic lymphocytic, susceptibility to, type 4", "Clls4" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012935" }, { "id": 13976, "label": "leukemia, chronic lymphocytic, susceptibility to, 5", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027824", "MEDGEN:436452", "OMIM:612559", "UMLS:C2675514" ], "synonyms": [ "leukemia, chronic lymphocytic susceptibility to, 5", "leukemia, chronic lymphocytic, susceptibility to, 5", "leukemia, chronic lymphocytic, susceptibility to, type 5", "Clls5" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012936" }, { "id": 13982, "label": "lung cancer susceptibility 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027825", "MEDGEN:382615", "OMIM:612571", "UMLS:C2675497" ], "synonyms": [ "LNCR3", "lung cancer susceptibility 3", "adenocarcinoma of lung, susceptibility to" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012942" }, { "id": 13991, "label": "colorectal cancer, susceptibility to, 8", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027826", "MEDGEN:436446", "OMIM:612589", "UMLS:C2675483" ], "synonyms": [ "CRCS8", "colorectal cancer, susceptibility to, 8", "colorectal cancer, susceptibility to, on chromosome 14Q" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012951" }, { "id": 13992, "label": "colorectal cancer, susceptibility to, 9", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027827", "MEDGEN:390810", "OMIM:612590", "UMLS:C2675482" ], "synonyms": [ "CRCS9", "colorectal cancer, susceptibility to, 9", "colorectal cancer, susceptibility to, on chromosome 16Q" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012952" }, { "id": 13993, "label": "colorectal cancer, susceptibility to, 10", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027828", "MEDGEN:436445", "OMIM:612591", "UMLS:C2675481" ], "synonyms": [ "POLD1 colorectal cancer", "colorectal cancer caused by mutation in POLD1", "colorectal cancer, susceptibility to, 10", "colorectal cancer, susceptibility to, type 10", "CRCS10", "colorectal cancer, susceptibility to, on chromosome 19Q", "susceptibility to colorectal cancer 10" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene." }, "child_count": 0, "reference_id": "MONDO:0012953" }, { "id": 13994, "label": "colorectal cancer, susceptibility to, 11", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027829", "MEDGEN:390809", "OMIM:612592", "UMLS:C2675480" ], "synonyms": [ "CRCS11", "colorectal cancer, susceptibility to, 11", "colorectal cancer, susceptibility to, on chromosome 20P" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012954" }, { "id": 13995, "label": "lung cancer susceptibility 4", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027830", "MEDGEN:390808", "OMIM:612593", "UMLS:C2675479" ], "synonyms": [ "LNCR4", "lung cancer susceptibility 4" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012955" }, { "id": 14121, "label": "neuroblastoma, susceptibility to, 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027831", "MEDGEN:414083", "OMIM:613014", "UMLS:C2751681" ], "synonyms": [ "ALK neuroblastoma", "neuroblastoma caused by mutation in ALK", "neuroblastoma, susceptibility to, 3", "neuroblastoma, susceptibility to, type 3", "NBLST3", "susceptibility to neuroblastoma 3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." }, "child_count": 0, "reference_id": "MONDO:0013083" }, { "id": 14122, "label": "neuroblastoma, susceptibility to, 4", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027832", "MEDGEN:414082", "OMIM:613015", "UMLS:C2751680" ], "synonyms": [ "NBLST4", "neuroblastoma, susceptibility to, 4" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013084" }, { "id": 14123, "label": "neuroblastoma, susceptibility to, 5", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027833", "MEDGEN:442787", "OMIM:613016", "UMLS:C2751679" ], "synonyms": [ "NBLST5", "neuroblastoma, susceptibility to, 5" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013085" }, { "id": 14124, "label": "neuroblastoma, susceptibility to, 6", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027834", "MEDGEN:414440", "OMIM:613017", "UMLS:C2751678" ], "synonyms": [ "NBLST6", "neuroblastoma, susceptibility to, 6" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013086" }, { "id": 14146, "label": "leukemia, acute lymphocytic, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218, 20092 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027842", "MEDGEN:442767", "OMIM:613065", "UMLS:C2751595" ], "synonyms": [ "T-cell acute lymphoblastic leukemia, somatic", "leukemia, T-cell acute lymphoblastic, somatic", "leukemia, T-cell acute lymphocytic, somatic", "leukemia, acute lymphoblastic, somatic", "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic", "leukemia, acute lymphocytic, susceptibility to, 1", "ALL", "All1", "leukemia, B-cell acute lymphoblastic, susceptibility to", "leukemia, T-cell acute lymphoblastic, susceptibility to", "leukemia, acute lymphoblastic", "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to", "leukemia, acute lymphoblastic, susceptibility to, 1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013108" }, { "id": 14147, "label": "leukemia, acute lymphocytic, susceptibility to, 2", "isLeaf": true, "isRoot": false, "parents": [ 16218, 20092 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027843", "MEDGEN:442766", "OMIM:613067", "UMLS:C2751593" ], "synonyms": [ "leukemia, acute lymphocytic, susceptibility to, 2", "ALL2", "leukemia, acute lymphoblastic, susceptibility to, 2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013109" }, { "id": 14656, "label": "lung cancer susceptibility 5", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027850", "MEDGEN:481786", "OMIM:614210", "UMLS:C3280156" ], "synonyms": [ "LNCR5", "lung cancer susceptibility 5" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0013631" }, { "id": 14714, "label": "BAP1-related tumor predisposition syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013219", "MEDGEN:482122", "NCIT:C172639", "OMIM:614327", "Orphanet:289539", "SCTID:765057007", "UMLS:C3280492" ], "synonyms": [ "BAP1-related tumor predisposition syndrome", "tumor susceptibility linked to germline BAP1 mutations", "tumour susceptibility linked to germline BAP1 mutations", "BAP1 tumor predisposition syndrome", "BAP1 tumour predisposition syndrome", "TPDS", "tumor predisposition syndrome", "tumour predisposition syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape." }, "child_count": 0, "reference_id": "MONDO:0013692" }, { "id": 14822, "label": "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218, 19142, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017413", "MEDGEN:482833", "OMIM:614564", "Orphanet:313846", "UMLS:C3281203" ], "synonyms": [ "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome", "FCTCS", "cutaneous telangiectasia and cancer syndrome, familial", "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome", "telangiectasia, cutaneous, and cancer syndrome, familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013806" }, { "id": 14824, "label": "Maffucci syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4599, 16218, 19142, 19480, 19507, 21247, 21452, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060221", "GARD:0006958", "MEDGEN:7437", "NCIT:C3213", "NORD:1393", "OMIM:614569", "Orphanet:163634", "SCTID:46041001", "UMLS:C0024454", "icd11.foundation:548780091" ], "synonyms": [ "Chondroplasia angiomatosis", "Dyschondroplasia and cavernous hemangioma", "Maffucci syndrome", "Maffucci type enchondromatosis", "Maffucci's anomalad", "chondrodysplasia with hemangioma", "enchondromatosis with hemangiomata", "hemangiomata with Dyschondroplasia", "Dyschondrodysplasia with hemangiomas", "Kast syndrome", "enchondromatosis with multiple cavernous hemangiomas", "hemangiomatosis Chondrodystrophica", "multiple Angiomas and Endochondromas", "multiple enchondromatosis, Maffucci type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." }, "child_count": 0, "reference_id": "MONDO:0013808" }, { "id": 14888, "label": "basal cell carcinoma, susceptibility to, 7", "isLeaf": true, "isRoot": false, "parents": [ 16218, 23800 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027853", "MEDGEN:766520", "OMIM:614740", "UMLS:C3553606" ], "synonyms": [ "TP53 skin basal cell carcinoma", "basal cell carcinoma 7", "basal cell carcinoma, susceptibility to, 7", "basal cell carcinoma, susceptibility to, type 7", "skin basal cell carcinoma caused by mutation in TP53", "BCC7", "susceptibility to basal cell carcinoma 7" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene." }, "child_count": 0, "reference_id": "MONDO:0013876" }, { "id": 15048, "label": "colorectal cancer, susceptibility to, 12", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027855", "MEDGEN:767374", "OMIM:615083", "UMLS:C3554460" ], "synonyms": [ "POLE colorectal cancer", "colorectal cancer caused by mutation in POLE", "colorectal cancer, susceptibility to, 12", "colorectal cancer, susceptibility to, type 12", "CRCS12", "colorectal cancer, susceptibility to, on chromosome 12Q24", "susceptibility to colorectal cancer 12" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." }, "child_count": 0, "reference_id": "MONDO:0014038" }, { "id": 15247, "label": "leukemia, acute lymphoblastic, susceptibility to, 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027857", "MEDGEN:816204", "OMIM:615545", "UMLS:C3809874" ], "synonyms": [ "PAX5 precursor B-cell acute lymphoblastic leukaemia", "PAX5 precursor B-cell acute lymphoblastic leukemia", "PAX5-related leukemia predisposition", "leukemia, acute lymphoblastic, susceptibility to, 3", "leukemia, acute lymphoblastic, susceptibility to, type 3", "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5", "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5", "ALL3", "susceptibility to acute lymphoblastic leukaemia 3", "susceptibility to acute lymphoblastic leukemia 3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene." }, "child_count": 0, "reference_id": "MONDO:0014241" }, { "id": 15285, "label": "cholangiocarcinoma, susceptibility to", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027858", "MEDGEN:816486", "OMIM:615619", "UMLS:C3810156" ], "synonyms": [ "cholangiocarcinoma, susceptibility to", "Chlc, susceptibility to" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014281" }, { "id": 15526, "label": "progeroid features-hepatocellular carcinoma predisposition syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111264", "GARD:0017722", "MEDGEN:863898", "OMIM:616200", "Orphanet:435953", "UMLS:C4015461" ], "synonyms": [ "Ruijs-Aalfs syndrome", "RJALS", "RUIJS-Aalfs syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014527" }, { "id": 15763, "label": "neuroblastoma, susceptibility to, 7", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027862", "MEDGEN:899178", "OMIM:616792", "UMLS:C4225207" ], "synonyms": [ "NBLST7", "neuroblastoma, susceptibility to, 7", "neuroblastoma, susceptibility to, 7; NBLST7", "neuroblastoma, susceptibility to, type 7" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014774" }, { "id": 15797, "label": "DDX41-related hematologic malignancy predisposition syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017899", "MEDGEN:895780", "OMIM:616871", "Orphanet:488647", "UMLS:C4225174" ], "synonyms": [ "DDX41 hereditary neoplastic syndrome", "DDX41-related hematologic malignancy predisposition syndrome", "MPLPF", "hereditary neoplastic syndrome caused by mutation in DDX41", "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to", "susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene." }, "child_count": 0, "reference_id": "MONDO:0014809" }, { "id": 15882, "label": "nasopharyngeal carcinoma, susceptibility to, 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027863", "MEDGEN:934696", "OMIM:617075", "UMLS:C4310729" ], "synonyms": [ "MST1R nasopharyngeal carcinoma", "NPCA3", "nasopharyngeal carcinoma caused by mutation in MST1R", "nasopharyngeal carcinoma, susceptibility to, 3", "nasopharyngeal carcinoma, susceptibility to, 3; NPCA3", "nasopharyngeal carcinoma, susceptibility to, type 3", "susceptibility to nasopharyngeal carcinoma 3" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene." }, "child_count": 0, "reference_id": "MONDO:0014902" }, { "id": 16003, "label": "familial isolated hyperparathyroidism", "isLeaf": false, "isRoot": false, "parents": [ 16218, 16897 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016923", "MEDGEN:1643161", "NCIT:C94830", "Orphanet:99879", "UMLS:C4551961", "icd11.foundation:1799621215" ], "synonyms": [ "FIHP", "FIHPT", "familial isolated hyperparathyroidism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors." }, "child_count": 6, "reference_id": "MONDO:0015027" }, { "id": 16103, "label": "intestinal polyposis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019847", "MEDGEN:577190", "MedDRA:10057018", "NCIT:C155954", "Orphanet:104010", "SCTID:254589009", "UMLS:C0345891" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes." }, "child_count": 8, "reference_id": "MONDO:0015185" }, { "id": 16534, "label": "dyskeratosis congenita", "isLeaf": false, "isRoot": false, "parents": [ 16218, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2729", "GARD:0010905", "MEDGEN:78580", "MESH:D019871", "MedDRA:10062759", "NANDO:1200304", "NANDO:1200342", "NANDO:2200715", "NCIT:C111802", "NORD:1071", "OMIMPS:127550", "Orphanet:1775", "SCTID:74911008", "UMLS:C0265965", "icd11.foundation:1531033936" ], "synonyms": [ "DC", "DKC", "Zinsser-Engman-Cole syndrome", "dyskeratosis congenita", "Hoyeraal-Hreidarsson syndrome", "Zinsser Cole Engman syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer." }, "child_count": 32, "reference_id": "MONDO:0015780" }, { "id": 16983, "label": "familial rhabdoid tumor", "isLeaf": false, "isRoot": false, "parents": [ 4765, 16218 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070617", "GARD:0017159", "MEDGEN:457750", "NCIT:C93268", "OMIMPS:609322", "Orphanet:231108", "UMLS:C2985524" ], "synonyms": [ "RTPS", "familial posterior fossa brain tumor syndrome of infancy", "familial posterior fossa brain tumour syndrome of infancy", "familial rhabdoid tumor", "hereditary rhabdoid tumor", "hereditary rhabdoid tumour", "rhabdoid predisposition syndrome", "rhabdoid tumor predisposition syndrome", "rhabdoid tumour predisposition syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma." }, "child_count": 4, "reference_id": "MONDO:0016473" }, { "id": 17512, "label": "multiple endocrine neoplasia", "isLeaf": false, "isRoot": false, "parents": [ 16050, 16218, 20691 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3125", "GARD:0021044", "ICD10CM:E31.2", "ICD9:258.0", "ICDO:8360/1", "MEDGEN:45036", "MESH:D009377", "MedDRA:10061299", "NANDO:2100148", "NCIT:C6432", "OMIMPS:131100", "Orphanet:276161", "SCTID:46724008", "UMLS:C0027662" ], "synonyms": [ "MEN", "men syndrome", "men syndromes", "multiple endocrine adenomatosis", "multiple endocrine neoplasia", "multiple endocrine neoplasia syndrome", "multiple endocrine neoplasia syndrome(s)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs." }, "child_count": 9, "reference_id": "MONDO:0017169" }, { "id": 17682, "label": "hereditary pheochromocytoma-paraganglioma", "isLeaf": false, "isRoot": false, "parents": [ 16218, 19314 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0011984", "MEDGEN:895844", "OMIMPS:168000", "Orphanet:29072", "UMLS:C4274332" ], "synonyms": [ "familial pheochromocytoma-paraganglioma", "hereditary paraganglioma-pheochromocytoma syndrome", "hereditary pheochromocytoma-paraganglioma", "SDHx-related paraganglioma-pheochromocytoma", "hereditary paraganglioma-pheochromocytoma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Neoplasm predisposition characterized by an increased risk of paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla)." }, "child_count": 18, "reference_id": "MONDO:0017366" }, { "id": 17900, "label": "PTEN hamartoma tumor syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080191", "GARD:0012800", "MEDGEN:368366", "NCIT:C179915", "NORD:1631", "Orphanet:306498", "SCTID:722859001", "UMLS:C1959582" ], "synonyms": [ "PHTS", "PTEN hamartoma tumor syndrome", "PTEN-related Hamartoma tumor syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome." }, "child_count": 12, "reference_id": "MONDO:0017623" }, { "id": 18233, "label": "familial multiple fibrofolliculoma", "isLeaf": true, "isRoot": false, "parents": [ 16218, 20564, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003831", "Orphanet:338", "SCTID:723361006" ], "synonyms": [ "multiple fibrofolliculoma familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Familial multiple fibrofolliculoma is a genodermatosis characterized by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far." }, "child_count": 0, "reference_id": "MONDO:0018070" }, { "id": 18304, "label": "hereditary retinoblastoma", "isLeaf": true, "isRoot": false, "parents": [ 2903, 9679, 16218, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4648", "GARD:0017544", "MEDGEN:155869", "NCIT:C8495", "OMIM:180200", "Orphanet:357027", "UMLS:C0751483" ], "synonyms": [ "RB1", "RB1-related retinoblastoma predisposition", "familial retinoblastoma", "hereditary retinoblastoma", "retinoblastoma, autosomal dominant, somatic mutation", "retinoblastoma, trilateral, autosomal dominant, somatic mutation" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood." }, "child_count": 0, "reference_id": "MONDO:0018160" }, { "id": 18497, "label": "familial atypical multiple mole melanoma syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009281", "MEDGEN:389220", "NCIT:C27264", "Orphanet:404560", "UMLS:C2314896" ], "synonyms": [ "melanoma-pancreatic cancer syndrome", "B-K mole syndrome", "FAMM syndrome", "FAMM-PC syndrome", "FAMMM syndrome", "familial Clark nevus syndrome", "familial atypical mole melanoma syndrome", "familial atypical mole syndrome", "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome", "familial dysplastic nevus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0018453" }, { "id": 18627, "label": "hereditary nonpolyposis colon cancer", "isLeaf": false, "isRoot": false, "parents": [ 16218, 21140 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025132", "MEDGEN:232602", "NCIT:C120083", "OMIMPS:120435", "Orphanet:443909", "SCTID:315058005", "UMLS:C1333990", "icd11.foundation:8113015" ], "synonyms": [ "HNPCC", "Hereditary nonpolyposis colorectal cancer (HNPCC)", "colorectal cancer, hereditary nonpolyposis", "familial nonpolyposis colon cancer", "familial nonpolyposis colorectal cancer", "hereditary nonpolyposis colon cancer", "hereditary nonpolyposis colorectal cancer" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" } ], "definition": "A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age." }, "child_count": 10, "reference_id": "MONDO:0018630" }, { "id": 18807, "label": "Li-Fraumeni syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 16218, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111503", "DOID:3012", "GARD:0006902", "ICD9:V84.01", "MEDGEN:88399", "MESH:D016864", "MedDRA:10066795", "NCIT:C3476", "NORD:1913", "OMIM:151623", "OMIM:609266", "Orphanet:524", "SCTID:428850001", "UMLS:C0085390", "icd11.foundation:1968061860" ], "synonyms": [ "LFS", "Li Fraumeni syndrome", "Li-Fraumeni familial cancer susceptibility syndrome", "Li-Fraumeni syndrome", "Li-Fraumeni syndrome caused by mutation in TP53", "SBLA syndrome", "TP53 Li-Fraumeni syndrome", "TP53-related Li-Fraumeni syndrome", "sarcoma, breast, leukemia and adrenal gland syndrome", "LFS1", "LFS3", "Li-Fraumeni-like syndrome", "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)", "sarcoma family syndrome of 51 and Fraumeni", "sarcoma family syndrome of Li and Fraumeni" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias." }, "child_count": 0, "reference_id": "MONDO:0018875" }, { "id": 18821, "label": "Cobb syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3493, 5091, 16218, 19142, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0011892", "ICD9:239.2", "MEDGEN:91079", "MedDRA:10068841", "NCIT:C4485", "Orphanet:53721", "SCTID:254774003", "UMLS:C0346068", "icd11.foundation:1451924695" ], "synonyms": [ "Cobb's syndrome", "SAMS 1-31", "cutaneomeningospinal angiomatosis", "spinal arteriovenous metameric syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution." }, "child_count": 0, "reference_id": "MONDO:0018893" }, { "id": 20303, "label": "neurofibromatosis", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16218, 23107, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8712", "EFO:0008514", "GARD:0010420", "ICD10CM:Q85.0", "ICD9:237.7", "ICD9:237.70", "ICDO:9540/1", "MEDGEN:58149", "MESH:D017253", "NANDO:1200225", "NANDO:1200226", "NANDO:1200227", "NANDO:2201003", "NCIT:C6727", "SCTID:19133005", "UMLS:C0162678" ], "synonyms": [ "Recklinghausen's neurofibromatosis", "acoustic neurofibromatosis", "central Neurofibromatosis", "neurofibromatosis", "neurofibromatosis syndrome", "peripheral Neurofibromatosis", "type IV neurofibromatosis of riccardi", "von Reklinghausen disease", "neurofibromatosis type 2", "neurofibromatosis type 4", "neurofibromatosis type IV" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." }, "child_count": 20, "reference_id": "MONDO:0021061" }, { "id": 21418, "label": "susceptibility to familial cutaneous melanoma", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027916", "MEDGEN:1388845", "OMIMPS:155600", "UMLS:C4511622" ], "synonyms": [ "hereditary cutaneous melanoma (disease)", "melanoma, cutaneous malignant" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A susceptibility or predisposition to cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome." }, "child_count": 10, "reference_id": "MONDO:0024462" }, { "id": 22519, "label": "pancreatic cancer, susceptibility to, 5", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027948", "MEDGEN:1684838", "OMIM:618680", "UMLS:C5231459" ], "synonyms": [ "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5", "PNCA5" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0032867" }, { "id": 23915, "label": "leukemia, acute myeloid, susceptibility to", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027994", "MEDGEN:477590", "UMLS:C3275959" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An inherited susceptibility or predisposition to developing leukemia, acute myeloid." }, "child_count": 0, "reference_id": "MONDO:0100173" }, { "id": 23940, "label": "diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026080" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0100199" }, { "id": 23982, "label": "glioma susceptibility", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027996", "OMIMPS:137800" ], "synonyms": [ "glioma, susceptibility", "glioma, susceptibility to" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An inherited susceptibility or predisposition to developing glioma." }, "child_count": 10, "reference_id": "MONDO:0100242" }, { "id": 24037, "label": "hemangioma, capillary infantile, susceptibility to", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027997", "MEDGEN:864857", "UMLS:C4016420" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An inherited susceptibility or predisposition to developing capillary infantile hemangioma." }, "child_count": 0, "reference_id": "MONDO:0100301" }, { "id": 24214, "label": "CDH1-related diffuse gastric and lobular breast cancer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026244", "OMIM:137215" ], "synonyms": [ "DGLBC", "HDGC", "LBC", "diffuse gastric and lobular breast cancer syndrome", "gastric cancer, familial diffuse breast cancer, lobular", "gastric cancer, hereditary diffuse" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women." }, "child_count": 0, "reference_id": "MONDO:0100488" }, { "id": 24228, "label": "NTHL1-deficiency tumor predisposition syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026254" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Biallelic constitutional/germline loss-of-function NTHL1 variants confer predisposition to tumor formation demonstrating ‘COSMIC Signature 30’ mutation profile. Tumors have been reported at multiple primary sites; in particular adenomatous polyposis of colon (~10-50 polyps), colorectal cancer, and breast cancer." }, "child_count": 0, "reference_id": "MONDO:0100502" }, { "id": 24347, "label": "SAMD9-related spectrum and myeloid neoplasm risk", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028005" ], "synonyms": [ "MIRAGE syndrome susceptibility, SAMD9 form", "SAMD9-related spectrum and myeloid neoplasm risk" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A susceptibility or predisposition to MIRAGE syndrome and monosomy 7 myelodysplasia and leukemia syndrome 2, in which the cause of the disease is a mutation in the SAMD9 gene." }, "child_count": 0, "reference_id": "MONDO:0100628" }, { "id": 24439, "label": "neuroblastoma, susceptibility to, 2", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028008", "MEDGEN:416607", "OMIM:613013", "UMLS:C2751682" ], "synonyms": [ "NBLST2", "neuroblastoma, susceptibility to, type 2", "susceptibility to neuroblastoma 2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0700041" }, { "id": 24662, "label": "BARD1-related cancer predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026407" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the BARD1 gene. Germline pathogenic or likely pathogenic variants in the BARD1 gene confer a moderate risk of breast cancer, inherited in an autosomal dominant pattern, increasingly documented to be specific to triple negative breast cancer in women. BARD1 cancer susceptibility syndrome is also associated with other tumour types including neuroblastoma." }, "child_count": 0, "reference_id": "MONDO:0700267" }, { "id": 24663, "label": "BRCA1-related cancer predisposition", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026408" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the BRCA1 gene. Germline pathogenic or likely pathogenic variants in the BRCA1 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic cancer have been described." }, "child_count": 2, "reference_id": "MONDO:0700268" }, { "id": 24664, "label": "BRCA2-related cancer predisposition", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026409" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the BRCA2 gene. Germline pathogenic or likely pathogenic variants in the BRCA2 gene confer an autosomal dominant predisposition to hereditary breast and ovarian cancer. Tumor formation at other sites, including pancreatic and prostate cancer, have been described." }, "child_count": 3, "reference_id": "MONDO:0700269" }, { "id": 24665, "label": "ATM-related cancer predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026410" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer." }, "child_count": 0, "reference_id": "MONDO:0700270" }, { "id": 24666, "label": "CHEK2-related cancer predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026411", "MEDGEN:1849727", "UMLS:C5882668" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer." }, "child_count": 0, "reference_id": "MONDO:0700271" }, { "id": 24667, "label": "PALB2-related cancer predisposition", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026412" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer." }, "child_count": 1, "reference_id": "MONDO:0700272" }, { "id": 24668, "label": "RAD51C-related cancer predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026413" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer." }, "child_count": 0, "reference_id": "MONDO:0700273" }, { "id": 24669, "label": "RAD51D-related cancer predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026414" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the RAD51D gene. Pathogenic germline variation in RAD51D confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer." }, "child_count": 0, "reference_id": "MONDO:0700274" }, { "id": 24900, "label": "Li-fraumeni-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026485", "MEDGEN:382523", "UMLS:C2675080" ], "synonyms": [ "LFL" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800290" }, { "id": 25006, "label": "breast cancer, familial, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028053" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800418" }, { "id": 25007, "label": "breast cancer, familial, susceptibility to, 2", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028054" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800419" }, { "id": 25008, "label": "breast cancer, familial, susceptibility to, 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028055", "MEDGEN:462010", "UMLS:C3150660" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800420" }, { "id": 25011, "label": "colorectal cancer, susceptibility to, 4", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028056", "MEDGEN:394248", "UMLS:C2677290" ], "synonyms": [ "CRCS4" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800423" }, { "id": 25012, "label": "colorectal cancer, susceptibility to, on chromosome 15", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028057", "MEDGEN:394249", "UMLS:C2677291" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800424" }, { "id": 25021, "label": "ovarian cancer, familial, susceptibility to, 1", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028058", "MEDGEN:393561", "UMLS:C2676678" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800433" }, { "id": 25022, "label": "ovarian cancer, familial, susceptibility to, 2", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028059", "MEDGEN:382627", "UMLS:C2675522" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800434" }, { "id": 25023, "label": "ovarian cancer, familial, susceptibility to, 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028060", "MEDGEN:462011", "UMLS:C3150661" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0800435" }, { "id": 25107, "label": "inherited hematologic cancer-predisposing syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022461", "MEDGEN:1842853", "Orphanet:619340", "UMLS:C5681832" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0850064" }, { "id": 25275, "label": "mosaic neurofibromatosis/schwannomatosis", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026651", "MEDGEN:1843398", "Orphanet:634518", "UMLS:C5816781" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 3, "reference_id": "MONDO:0859008" }, { "id": 25408, "label": "tumor predisposition syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026684", "MEDGEN:1823959", "OMIM:619975", "Orphanet:661526", "UMLS:C5774186" ], "synonyms": [ "MANS", "MBD4-associated neoplasia syndrome", "MBD4-related recessive tumor predisposition syndrome", "TPDS2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma." }, "child_count": 0, "reference_id": "MONDO:0859267" }, { "id": 26077, "label": "prostate cancer, hereditary, X-linked 3", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028085", "MEDGEN:1861605", "OMIM:301120", "UMLS:C5935569" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0971170" }, { "id": 26376, "label": "follicular lymphoma, susceptibility to", "isLeaf": false, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:613024" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0980759" }, { "id": 26623, "label": "GPR161-related medulloblastoma predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "synonyms": [ "GPR161-related medulloblastoma predisposition" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A predisposition to medulloblastoma, a tumor that originates in the cerebellum and dorsal brainstem, has a peak incidence in childhood, and makes up a large proportion of embryonal brain tumors due to a variation in the GPR161 gene." }, "child_count": 0, "reference_id": "MONDO:1010204" }, { "id": 29298, "label": "SAMD9L-related spectrum and myeloid neoplasm risk", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028150" ], "synonyms": [ "SAMD9L-related spectrum and myeloid neoplasm risk" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A susceptibility or predisposition to myeloid neoplasms in which the cause of the disease is a mutation in the SAMD9L gene. This condition is characterized by variable presentations of ataxia and cytopenia, myelodysplastic syndrome, monosomy 7 (acute myelogenous leukemia), and bone marrow failure." }, "child_count": 0, "reference_id": "MONDO:1060111" }, { "id": 29333, "label": "HAVCR2-related cancer predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028172" ], "synonyms": [ "HAVCR2-related SPTCL and/or HLH predisposition", "HAVCR2-related subcutaneous panniculitis-like T-cell lymphoma and/or hemophagocytic lymphohistiocytosis predisposition" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the HAVCR2 gene, which confers the predisposition to susceptibility to subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and hemophagocytic lymphohistiocytosis (HLH). Affected individuals typically present with multiple subcutaneous nodules and systemic B symptoms." }, "child_count": 0, "reference_id": "MONDO:1060169" }, { "id": 29345, "label": "EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition", "isLeaf": true, "isRoot": false, "parents": [ 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028183" ], "synonyms": [ "EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary cancer predisposition due to variation(s) in the EGLN12 gene, which confers a predisposition to erythrocytosis and pheochromocytoma/paraganglioma." }, "child_count": 0, "reference_id": "MONDO:1060184" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 20011, "label": "inherited disease susceptibility" }, { "id": 20301, "label": "neoplastic syndrome" } ] }