{ "id": 19049, "label": "primary lymphedema", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019175", "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." }, "isLeaf": false, "isRoot": false, "child_count": 13, "parents": [ { "id": 19145, "label": "lymphedema", "isLeaf": false, "isRoot": false, "parents": [ 7447 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4977", "ICD9:457.1", "MEDGEN:6155", "MESH:D008209", "MedDRA:10025282", "NCIT:C3207", "Orphanet:79383", "SCTID:234097001", "UMLS:C0024236" ], "synonyms": [ "lymphatic edema (morphologic abnormality)", "lymphatic oedema", "lymphatic oedema (morphologic abnormality)" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes." }, "child_count": 2, "reference_id": "MONDO:0019297" } ], "children": [ { "id": 9028, "label": "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)", "isLeaf": false, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012827", "Orphanet:69735" ], "synonyms": [ "hypotrichosis lymphedema telangiectasia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." }, "child_count": 4, "reference_id": "MONDO:0007670" }, { "id": 10076, "label": "aplasia cutis congenita-intestinal lymphangiectasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6756, 19049, 19143 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000753", "MEDGEN:349241", "MESH:C537788", "OMIM:207731", "Orphanet:1116", "SCTID:720500008", "UMLS:C1859753" ], "synonyms": [ "Bronspiegel-Zelnick syndrome", "autosomal recessive aplasia cutis", "ACC with intestinal lymphangiectasia", "aplasia cutis congenita intestinal lymphangiectasia", "aplasia cutis congenita with intestinal lymphangiectasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985." }, "child_count": 0, "reference_id": "MONDO:0008808" }, { "id": 10096, "label": "chylous ascites", "isLeaf": true, "isRoot": false, "parents": [ 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001359", "ICD9:457.8", "MEDGEN:969", "MESH:D002915", "MedDRA:10003446", "NCIT:C34482", "OMIM:208300", "Orphanet:1160", "SCTID:52985009", "UMLS:C0008732", "icd11.foundation:768846885" ], "synonyms": [ "ascites, chylous", "congenital chylous ascites" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." }, "child_count": 0, "reference_id": "MONDO:0008829" }, { "id": 10224, "label": "Aagenaes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6878, 19049 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6691", "GARD:0000370", "ICD9:576.8", "MEDGEN:78658", "MESH:C535330", "NCIT:C35709", "OMIM:214900", "Orphanet:1414", "SCTID:28724005", "UMLS:C0268314" ], "synonyms": [ "Aagenaes syndrome", "Chls", "LCS", "LCS1", "cholestasis lymphedema syndrome", "cholestasis-lymphedema syndrome", "lymphedema cholestasis syndrome", "lymphedema-cholestasis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." }, "child_count": 0, "reference_id": "MONDO:0008966" }, { "id": 10513, "label": "German syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16651, 19049 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:854357", "MESH:C562543", "OMIM:231080", "Orphanet:2077", "SCTID:733037000", "UMLS:C3887495" ], "synonyms": [ "German syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987." }, "child_count": 0, "reference_id": "MONDO:0009272" }, { "id": 10565, "label": "mullerian derivatives-lymphangiectasia-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005430", "MEDGEN:343489", "MESH:C536478", "OMIM:235255", "Orphanet:1655", "UMLS:C1856159" ], "synonyms": [ "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly", "Müllerian derivatives-lymphangiectasia-polydactyly syndrome", "Urioste syndrome", "persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly", "renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure." }, "child_count": 0, "reference_id": "MONDO:0009333" }, { "id": 11135, "label": "congenital pulmonary lymphangiectasia", "isLeaf": true, "isRoot": false, "parents": [ 6815, 8284, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009900", "MEDGEN:340355", "MESH:C537727", "NCIT:C99034", "NORD:1054", "OMIM:265300", "Orphanet:2414", "SCTID:45142002", "UMLS:C1849554", "icd11.foundation:2069435755" ], "synonyms": [ "Diffuse Pulmonary Lymphangiomatosis", "congenital pulmonary lymphangiectasis", "pulmonary lymphangiomatosis", "CPL", "lymphangiectasia pulmonary congenital", "lymphangiectasia, pulmonary, congenital", "lymphangiomatosis pulmonary", "lymphangiomatosis, pulmonary", "pulmonary cystic lymphangiectasis" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation." }, "child_count": 0, "reference_id": "MONDO:0009933" }, { "id": 12288, "label": "lymphedema-atrial septal defects-facial changes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000284", "MEDGEN:383042", "MESH:C535539", "MESH:C567398", "OMIM:601927", "Orphanet:86915", "SCTID:721978002", "UMLS:C2677167" ], "synonyms": [ "Irons-Bhan syndrome", "Irons-Bianchi syndrome", "Irons Bhan syndrome", "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes", "lymphedema, CARDIAC septal defects, and characteristic facies", "lymphedema, atrial septal defect, and characteristic facial changes", "lymphedema, atrial septal defect, and characteristic facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0011166" }, { "id": 19154, "label": "lymphatic malformation", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7065, 19049 ], "type_id": 0, "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." }, "child_count": 84, "reference_id": "MONDO:0019313" }, { "id": 22855, "label": "GJC2-related late-onset primary lymphedema", "isLeaf": true, "isRoot": false, "parents": [ 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022299", "MEDGEN:1809328", "Orphanet:568051", "UMLS:C5681305" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association." }, "child_count": 0, "reference_id": "MONDO:0035472" }, { "id": 22856, "label": "warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022300", "MEDGEN:1799992", "Orphanet:568056", "UMLS:C5568569" ], "synonyms": [ "WILD syndrome", "disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported." }, "child_count": 0, "reference_id": "MONDO:0035473" }, { "id": 22857, "label": "EPHB4-related lymphatic-related hydrops fetalis", "isLeaf": true, "isRoot": false, "parents": [ 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022302", "MEDGEN:1802765", "Orphanet:568065", "UMLS:C5680140" ], "synonyms": [ "EPHB4-related LRHF/GLD", "EPHB4-related generalised lymphatic dysplasia with atrial septal defect", "EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis", "EPHB4-related generalized lymphatic dysplasia with atrial septal defect", "EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients." }, "child_count": 0, "reference_id": "MONDO:0035475" }, { "id": 22858, "label": "CELSR1-related late-onset primary lymphedema", "isLeaf": true, "isRoot": false, "parents": [ 19049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022306", "MEDGEN:1802645", "Orphanet:569816", "UMLS:C5681848" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux." }, "child_count": 0, "reference_id": "MONDO:0035499" } ], "roots": [ { "id": 19145, "label": "lymphedema" } ] }