{ "id": 19154, "label": "lymphatic malformation", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019313", "properties": { "xrefs": [ "DOID:0050580", "GARD:0013057", "ICD10CM:Q82.0", "ICD9:757.0", "MEDGEN:140763", "OMIMPS:153100", "SCTID:254199006", "UMLS:C0398368" ], "synonyms": [ "hereditary lymphedema", "lymphedema, hereditary" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation." }, "isLeaf": false, "isRoot": false, "child_count": 28, "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": 7065, "label": "vascular disorder", "isLeaf": false, "isRoot": false, "parents": [ 6736 ], "type_id": 0, "properties": { "xrefs": [ "DOID:178", "EFO:0004264", "ICD10CM:I00-I99", "ICD10CM:I70-I79", "ICD9:442.9", "MEDGEN:22621", "MESH:D014652", "NANDO:2100294", "NCIT:C35117", "SCTID:27550009", "UMLS:C0042373" ], "synonyms": [ "disease of vasculature", "disease or disorder of vasculature", "disorder of vasculature", "vascular disorder", "vasculature disease", "vasculature disease or disorder", "vasculopathy" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome." }, "child_count": 60, "reference_id": "MONDO:0005385" }, { "id": 19049, "label": "primary lymphedema", "isLeaf": false, "isRoot": false, "parents": [ 19145 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018932", "MEDGEN:1804666", "NANDO:2201031", "NCIT:C48829", "Orphanet:77240", "UMLS:C5576443", "icd11.foundation:794588197" ], "synonyms": [ "Troncular lymphatic malformation", "primary lymphedema" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection." }, "child_count": 13, "reference_id": "MONDO:0019175" } ], "children": [ { "id": 9251, "label": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 2903, 3394, 4370, 19000, 19154, 23165, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060349", "GARD:0003622", "MEDGEN:320559", "MESH:C537711", "OMIM:152950", "Orphanet:2526", "UMLS:C1835265" ], "synonyms": [ "KIF11-associated disorder", "MCLMR", "MLCRD", "MLCRD syndrome", "lymphedema, microcephaly and chorioretinopathy syndrome", "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "microcephaly, lymphedema, chorioretinal dysplasia syndrome", "KIF11 disease", "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0007918" }, { "id": 9252, "label": "lymphatic malformation 1", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070210", "DOID:0070212", "GARD:0003328", "MEDGEN:309963", "OMIM:153100", "Orphanet:79452", "SCTID:399889006", "UMLS:C1704423" ], "synonyms": [ "FLT4 hereditary lymphedema", "LMPH1A", "Milroy disease", "Nonne-Milroy disease", "Nonne-Milroy lymphedema", "Nonne-Milroy syndrome", "Nonne’s syndrome", "congenital hereditary lymphedema", "early onset lymphedema", "hereditary lymphedema 1", "hereditary lymphedema caused by mutation in FLT4", "hereditary lymphedema type I", "lymphedema, early-onset", "lymphedema, hereditary, 1A", "lymphedema, hereditary, type 1A", "primary congenital lymphedema" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." }, "child_count": 0, "reference_id": "MONDO:0007919" }, { "id": 9253, "label": "lymphatic malformation 5", "isLeaf": true, "isRoot": false, "parents": [ 2944, 19154, 23165, 23452 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070213", "GARD:0003324", "MEDGEN:1648463", "MESH:C562467", "MedDRA:10027138", "OMIM:153200", "Orphanet:90186", "SCTID:400040008", "UMLS:C4746631" ], "synonyms": [ "LMPH2", "Meige disease", "Meige lymphedema", "hereditary lymphedema type II", "late-onset primary lymphedema", "lymphedema hereditary type 2", "lymphedema praecox", "lymphedema, hereditary, II", "lymphedema, late-onset" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty." }, "child_count": 0, "reference_id": "MONDO:0007920" }, { "id": 9254, "label": "yellow nail syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050468", "EFO:1001452", "GARD:0000184", "ICD10CM:L60.5", "ICD9:703.8", "ICD9:757.0", "MEDGEN:113164", "MESH:D056684", "MedDRA:10048244", "NCIT:C85238", "NORD:1874", "OMIM:153300", "Orphanet:662", "SCTID:400211001", "UMLS:C0221348", "icd11.foundation:47812081" ], "synonyms": [ "YNS", "lymphedema with yellow nails", "yellow nail syndrome", "Yns", "lymphedema and Yellow nails" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." }, "child_count": 0, "reference_id": "MONDO:0007921" }, { "id": 9255, "label": "lymphedema-distichiasis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111509", "GARD:0000333", "ICD9:743.63", "MEDGEN:75566", "MESH:C537710", "NCIT:C128191", "NORD:1383", "OMIM:153400", "Orphanet:33001", "SCTID:8634009", "UMLS:C0265345" ], "synonyms": [ "lymphedema-distichiasis syndrome", "hereditary lymphedema-distichiasis syndrome (subtype)", "lymphedema with distichiasis", "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." }, "child_count": 0, "reference_id": "MONDO:0007922" }, { "id": 10161, "label": "campomelia, Cumming type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 19154, 19475 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001061", "MEDGEN:347864", "MESH:C537966", "OMIM:211890", "Orphanet:1318", "SCTID:720599002", "UMLS:C1859371", "icd11.foundation:152223075" ], "synonyms": [ "campomelia, Cumming type", "Cumming syndrome", "campomelia Cumming type", "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys", "cervical lymphocele with bowed long bones" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies." }, "child_count": 0, "reference_id": "MONDO:0008896" }, { "id": 10756, "label": "Dahlberg-Borer-Newcomer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16089, 19138, 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000237", "MEDGEN:383693", "MESH:C535769", "OMIM:247410", "Orphanet:1563", "SCTID:721083007", "UMLS:C1855477", "icd11.foundation:1407652122" ], "synonyms": [ "Dahlberg syndrome", "lymphedema-hypoparathyroidism syndrome", "Dahlberg Borer Newcomer syndrome", "hypoparathyroidism lymphedema syndrome", "hypoparathyroidism-lymphedema syndrome", "lymphedema hypoparathyroidism syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities." }, "child_count": 0, "reference_id": "MONDO:0009533" }, { "id": 10970, "label": "Norman-Roberts syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16115, 19154, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060902", "GARD:0016780", "MEDGEN:163213", "OMIM:257320", "Orphanet:89844", "SCTID:717977003", "UMLS:C0796089", "icd11.foundation:164166454" ], "synonyms": [ "Microlissencephaly type A", "Norman-Roberts syndrome", "lissencephaly 2", "lissencephaly 2 (Norman-Roberts type)", "lissencephaly syndrome, Norman-Roberts type", "LIS2", "Norman Roberts lissencephaly syndrome", "lissencephaly syndrome Norman-Roberts type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation." }, "child_count": 0, "reference_id": "MONDO:0009760" }, { "id": 11467, "label": "anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17540, 19138, 19154, 23904 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016681", "MEDGEN:929406", "MESH:C564538", "OMIM:300301", "Orphanet:69088", "SCTID:720986005", "UMLS:C4303737" ], "synonyms": [ "OL-EDA-ID", "ol-EDA-ID", "OLEDAID", "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0010295" }, { "id": 12377, "label": "MPI-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7156, 17973, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080554", "GARD:0009830", "ICD9:277.6", "MEDGEN:400692", "MESH:C535740", "OMIM:602579", "Orphanet:79319", "SCTID:124668009", "UMLS:C1865145", "icd11.foundation:803079134" ], "synonyms": [ "CDG syndrome type IB", "CDG-Ib", "CDG1B", "MPI-CDG", "carbohydrate deficient glycoprotein syndrome type IB", "congenital disorder of glycosylation type 1b", "congenital disorder of glycosylation type IB", "phosphomannose isomerase deficiency", "CDG 1B", "CDG Ib", "CDG gastrointestinal type", "CDG, gastrointestinal type", "MPI-CDG (CDG-Ib)", "Mannosephosphate isomerase deficiency", "Mpi deficiency", "Protein-losing enteropathy-hepatic fibrosis syndrome", "SLSJ syndrome", "Saguenay Lac Saint Jean syndrome", "Saguenay-Lac Saint-Jean syndrome", "Slsj syndrome", "carbohydrate-deficient glycoprotein syndrome type 1B", "congenital disorder of glycosylation, type IB" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." }, "child_count": 0, "reference_id": "MONDO:0011257" }, { "id": 12988, "label": "hypotrichosis-lymphedema-telangiectasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 9028, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111361", "GARD:0015420", "MEDGEN:375070", "MESH:C564327", "OMIM:607823", "UMLS:C1843004" ], "synonyms": [ "hypotrichosis-lymphedema-telangiectasia syndrome", "HLTS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011914" }, { "id": 13805, "label": "lymphatic malformation 2", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070211", "GARD:0016453", "MEDGEN:1648459", "MESH:C567452", "OMIM:611944", "UMLS:C4747568" ], "synonyms": [ "LMPH1B", "lymphedema, hereditary, 1B" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012765" }, { "id": 14313, "label": "lymphatic malformation 3", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070208", "GARD:0016456", "MEDGEN:1652857", "OMIM:613480", "UMLS:C4747646" ], "synonyms": [ "GJC2 hereditary lymphedema", "hereditary lymphedema caused by mutation in GJC2", "lymphedema, hereditary, 1C", "lymphedema, hereditary, type 1C", "LMPH1C", "lymphedema, hereditary, IC" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." }, "child_count": 0, "reference_id": "MONDO:0013278" }, { "id": 14568, "label": "deafness-lymphedema-leukemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7217, 19154, 23106 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013030", "ICD9:757.0", "MEDGEN:481294", "OMIM:614038", "Orphanet:3226", "SCTID:700057001", "UMLS:C3279664", "icd11.foundation:1818043307" ], "synonyms": [ "Emberger syndrome", "deafness-lymphedema-leukemia syndrome", "lymphedema, primary, with myelodysplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders." }, "child_count": 0, "reference_id": "MONDO:0013540" }, { "id": 15395, "label": "lymphatic malformation 4", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070209", "GARD:0016468", "MEDGEN:1651756", "OMIM:615907", "UMLS:C4747769" ], "synonyms": [ "VEGFC hereditary lymphedema", "hereditary lymphedema caused by mutation in VEGFC", "lymphedema, hereditary, 1D", "lymphedema, hereditary, type 1D", "LMPH1D" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." }, "child_count": 0, "reference_id": "MONDO:0014393" }, { "id": 15785, "label": "lymphatic malformation 6", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022301", "MEDGEN:908120", "OMIM:616843", "Orphanet:568062", "UMLS:C4225184" ], "synonyms": [ "LMPH3", "PIEZO1-related LRHF/GLD", "PIEZO1-related generalised lymphatic dysplasia with systemic involvement", "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis", "PIEZO1-related generalized lymphatic dysplasia with systemic involvement", "PIEZO1-related lymphatic-related hydrops fetalis", "generalised lymphatic dysplasia of Fotiou", "generalized lymphatic dysplasia of Fotiou", "lymphedema, hereditary, III", "lymphedema, hereditary, type III" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014797" }, { "id": 15985, "label": "lymphatic malformation 7", "isLeaf": true, "isRoot": false, "parents": [ 19154, 24476 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025049", "MEDGEN:934596", "OMIM:617300", "UMLS:C4310629" ], "synonyms": [ "HFASD", "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to", "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0015009" }, { "id": 16822, "label": "Hennekam syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16087, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060366", "GARD:0003318", "ICD9:457.1", "MEDGEN:137946", "OMIMPS:235510", "Orphanet:2136", "SCTID:234146006", "UMLS:C0340834", "icd11.foundation:162216708" ], "synonyms": [ "Hennekam lymphangiectasia lymphedema syndrome", "Hennekam lymphangiectasia-lymphedema syndrome", "lymphedema-lymphangiectasia-intellectual disability syndrome", "intestinal lymphagiectasia lymphedema intellectual deficit syndrome", "lymphangiectasies and lymphedema Hennekam type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism." }, "child_count": 9, "reference_id": "MONDO:0016256" }, { "id": 18913, "label": "Noonan syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 19154, 19780 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3490", "GARD:0010955", "ICD9:759.89", "MEDGEN:18073", "MESH:D009634", "MedDRA:10029748", "NANDO:1200680", "NANDO:2200413", "NCIT:C34854", "NORD:1513", "OMIMPS:163950", "Orphanet:648", "SCTID:205824006", "UMLS:C0028326", "icd11.foundation:1044395354" ], "synonyms": [ "Noonan syndrome", "Noonan's syndrome", "Noonan-Ehmke syndrome", "Ullrich-Noonan syndrome", "pseudo-Ullrich-Turner syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects." }, "child_count": 56, "reference_id": "MONDO:0018997" }, { "id": 18965, "label": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 9028, 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111360", "GARD:0002492", "MEDGEN:1373459", "MESH:C536825", "OMIM:137940", "UMLS:C4317151" ], "synonyms": [ "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "HLTRS", "glomerulonephritis with sparse hair and telangiectases", "telangiectatic membranoproliferative glomerulonephritis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0019073" }, { "id": 21261, "label": "lymphatic malformation 10", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025374", "MEDGEN:1780452", "OMIM:619369", "UMLS:C5543531" ], "synonyms": [ "LMPHM10" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0023662" }, { "id": 21865, "label": "lymphatic malformation 9", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025527", "MEDGEN:1779656", "OMIM:619319", "UMLS:C5543365" ], "synonyms": [ "LMPHM9", "lymphatic malformation 9" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030270" }, { "id": 21880, "label": "lymphatic malformation 11", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025535", "MEDGEN:1784862", "OMIM:619401", "UMLS:C5543614" ], "synonyms": [ "LMPHM11", "lymphatic malformation 11" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030316" }, { "id": 22206, "label": "lymphatic malformation 12", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081030", "GARD:0025681", "MEDGEN:1823976", "OMIM:620014", "UMLS:C5774203" ], "synonyms": [ "LMPHM12", "central conducting lymphatic anomaly", "lymphatic malformation 12" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0031043" }, { "id": 22559, "label": "lymphatic malformation 8", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025772", "MEDGEN:1684767", "OMIM:618773", "UMLS:C5231496" ], "synonyms": [ "LMPHM8", "LYMPHATIC MALFORMATION 8" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032907" }, { "id": 22859, "label": "congenital primary lymphedema of Gordon", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022307", "MEDGEN:1804948", "Orphanet:569821", "UMLS:C5680138" ], "synonyms": [ "VEGFC-related congenital primary lymphedema" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy." }, "child_count": 0, "reference_id": "MONDO:0035500" }, { "id": 25505, "label": "lymphatic malformation 13", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026725", "MEDGEN:1840915", "OMIM:620244", "UMLS:C5830279" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859379" }, { "id": 25776, "label": "lymphatic malformation 14", "isLeaf": true, "isRoot": false, "parents": [ 19154 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026897", "MEDGEN:1851480", "OMIM:620602", "UMLS:C5882718" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957954" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 7065, "label": "vascular disorder" }, { "id": 19049, "label": "primary lymphedema" } ] }