{ "id": 25666, "label": "type 1 interferonopathy of childhood", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0957408", "properties": { "xrefs": [ "GARD:0021986", "MEDGEN:1843010", "Orphanet:481671", "UMLS:C5681250" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A type 1 interferonopathy that occurs during childhood." }, "isLeaf": false, "isRoot": false, "child_count": 12, "parents": [ { "id": 24659, "label": "type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021957", "MEDGEN:1712223", "Orphanet:477647", "UMLS:C5394397" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response." }, "child_count": 9, "reference_id": "MONDO:0700264" }, { "id": 25593, "label": "autoinflammatory syndrome of childhood", "isLeaf": false, "isRoot": false, "parents": [ 19503 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1842803", "Orphanet:319719", "UMLS:C5680962" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0957018" } ], "children": [ { "id": 9724, "label": "Singleton-Merten dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000122", "ICD9:733.29", "MEDGEN:98481", "MESH:C537343", "NORD:1718", "OMIMPS:182250", "Orphanet:85191", "SCTID:254114000", "UMLS:C0432254", "icd11.foundation:1084593684" ], "synonyms": [ "Merten-Singleton syndrome", "Singleton Merten syndrome", "Singleton-Merten syndrome", "singleton Merten syndrome", "SGMRT1", "SM syndrome", "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition", "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)." }, "child_count": 4, "reference_id": "MONDO:0008429" }, { "id": 9923, "label": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "isLeaf": true, "isRoot": false, "parents": [ 4419, 19000, 24651, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111567", "GARD:0001217", "MEDGEN:348124", "MESH:C566007", "NORD:1910", "OMIM:192315", "Orphanet:247691", "SCTID:720854004", "SCTID:721141004", "UMLS:C1860518", "icd11.foundation:554838792" ], "synonyms": [ "RVCL", "RVCL-S", "hereditary vascular retinopathy", "retinal vasculopathy and cerebral leukoencephalopathy", "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations", "ADRVCL", "CRV", "HVR", "autosomal dominant retinal vasculopathy with cerebral leukodystrophy", "cerebroretinal vasculopathy", "cerebroretinal vasculopathy, hereditary", "grand Kaine fulling syndrome", "grand-Kaine-fulling syndrome", "retinal vasculopathy with cerebral leukodystrophy", "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena", "vasculopathy, retinal, with cerebral leukodystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." }, "child_count": 0, "reference_id": "MONDO:0008641" }, { "id": 10352, "label": "trichohepatoenteric syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5658, 6756, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111414", "GARD:0005258", "MEDGEN:347405", "OMIMPS:222470", "Orphanet:84064", "SCTID:703406006", "UMLS:C1857276", "icd11.foundation:1470910753" ], "synonyms": [ "SD/THE", "Tricho-hepato-enteric syndrome", "Trichohepatoenteric syndrome", "Trichohepatoenteric syndrome type 1", "phenotypic diarrhea", "phenotypic diarrhoea", "syndromic diarrhea", "syndromic diarrhea/Tricho-hepato-enteric syndrome", "syndromic diarrhoea", "Syndromatic diarrhea", "Syndromatic diarrhoea", "THES1" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." }, "child_count": 8, "reference_id": "MONDO:0009105" }, { "id": 10939, "label": "proteosome-associated autoinflammatory syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6778, 7611, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050553", "DOID:0060913", "GARD:0013824", "ICD9:709.8", "MEDGEN:376827", "MESH:C538334", "NANDO:1200867", "NANDO:2200435", "OMIMPS:256040", "Orphanet:2615", "Orphanet:324977", "Orphanet:324999", "Orphanet:325004", "SCTID:702449004", "UMLS:C1850568" ], "synonyms": [ "ALDD", "ALDD syndrome", "CANDLE syndrome", "JMP syndrome", "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy", "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy", "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome", "NNS", "Nakajo Nishimura syndrome", "Nakajo syndrome", "Nakajo-Nishimura syndrome", "PRAAS", "autoinflammation, lipodystrophy, and dermatosis syndrome", "autoinflammation-lipodystrophy-dermatosis syndrome", "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature", "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome", "proteasome disability syndrome", "proteasome-associated autoinflammatory syndrome", "secondary hypertrophic osteoperiostosis with pernio", "amyotrophy fat tissue anomaly", "amyotrophy-fat tissue anomaly syndrome", "nodular erythema digital changes" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 24, "reference_id": "MONDO:0009726" }, { "id": 11680, "label": "X-linked reticulate pigmentary disorder", "isLeaf": true, "isRoot": false, "parents": [ 21247, 23867, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111834", "GARD:0016756", "MEDGEN:336844", "MESH:C564461", "OMIM:301220", "Orphanet:85453", "SCTID:717224002", "UMLS:C1845050" ], "synonyms": [ "PDR", "Partington disease", "X-linked cutaneous amyloidosis", "XLPDR", "familial cutaneous amyloidosis", "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive", "amyloidosis, familial cutaneous", "pigmentary disorder, reticulate, with systemic manifestations", "pigmentary disorder, reticulate, with systemic manifestations, X-linked" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." }, "child_count": 0, "reference_id": "MONDO:0010523" }, { "id": 13013, "label": "Spondyloenchondrodysplasia with immune dysregulation", "isLeaf": true, "isRoot": false, "parents": [ 17208, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004978", "ICD9:756.9", "ICD9:759.89", "MEDGEN:375009", "MESH:C535782", "MESH:C564307", "NANDO:2200744", "OMIM:271550", "OMIM:607944", "Orphanet:1855", "Orphanet:50816", "SCTID:254079002", "SCTID:703523004", "UMLS:C1842763" ], "synonyms": [ "Roifman Immunoskeletal syndrome", "SPENCD", "SPENCDI", "Spondyloenchondrodysplasia with immune dysregulation", "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia", "spondyloenchondrodysplasia", "spondyloenchondrodysplasia with immune dysregulation", "spondyloenchondromatosis", "spondylometaphyseal dysplasia with combined immunodeficiency", "spondylometaphyseal dysplasia with enchondromatous changes", "SEM" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011939" }, { "id": 15310, "label": "deficiency of adenosine deaminase 2", "isLeaf": true, "isRoot": false, "parents": [ 18813, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012383", "MEDGEN:854497", "NANDO:1200995", "NANDO:2200441", "NANDO:2200450", "OMIM:615688", "Orphanet:404553", "UMLS:C3887654" ], "synonyms": [ "ADA2 deficiency", "DADA2", "adenosine deaminase 2 deficiency", "childhood-onset polyarteritis nodosa", "deficiency of adenosine deaminase 2", "polyarteritis nodosa, childhood-onset", "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome", "PAN" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered." }, "child_count": 0, "reference_id": "MONDO:0014306" }, { "id": 15407, "label": "STING-associated vasculopathy with onset in infancy", "isLeaf": true, "isRoot": false, "parents": [ 7065, 20399, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111457", "GARD:0012357", "ICD9:279.8", "MEDGEN:863159", "OMIM:615934", "Orphanet:425120", "SCTID:711164003", "UMLS:C4014722" ], "synonyms": [ "SAVI", "STING-associated vasculopathy, infantile-onset" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation." }, "child_count": 0, "reference_id": "MONDO:0014405" }, { "id": 15625, "label": "autoimmune interstitial lung disease-arthritis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6815, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081242", "GARD:0017762", "NORD:1973", "OMIMPS:616414", "Orphanet:444092" ], "synonyms": [ "COPA Syndrome", "autoinflammation and autoimmunity, systemic, with immune dysregulation", "AILJK", "autoimmune interstitial lung, joint, and kidney disease" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease." }, "child_count": 6, "reference_id": "MONDO:0014629" }, { "id": 18767, "label": "familial chilblain lupus", "isLeaf": false, "isRoot": false, "parents": [ 19364, 21247, 23867, 25666 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017874", "MEDGEN:1807766", "OMIMPS:610448", "Orphanet:481662", "UMLS:C5688224" ], "synonyms": [ "hereditary Chilblain lupus", "hereditary chilblain lupus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome." }, "child_count": 8, "reference_id": "MONDO:0018827" }, { "id": 18768, "label": "pseudo-TORCH syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 10846, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017875", "MEDGEN:1373355", "OMIM:617397", "Orphanet:481665", "UMLS:C4479376" ], "synonyms": [ "pseudo-TORCH syndrome 2", "PTORCH2", "USP18 deficiency" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018828" }, { "id": 18799, "label": "Aicardi-Goutieres syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5658, 7611, 18952, 21247, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050629", "GARD:0000575", "ICD9:333.0", "MEDGEN:97953", "MESH:C535607", "NANDO:1200996", "NANDO:2100244", "NANDO:2200893", "NORD:111728", "OMIMPS:225750", "Orphanet:51", "SCTID:230312006", "UMLS:C0393591" ], "synonyms": [ "Aicardi Goutieres syndrome", "Aicardi-Goutières Syndrome", "Cree encephalitis", "encephalopathy with basal ganglia calcification", "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid", "AGS", "Aicardi-Goutières syndrome", "encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis", "pseudotoxoplasmosis syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis." }, "child_count": 50, "reference_id": "MONDO:0018866" } ], "roots": [ { "id": 24659, "label": "type 1 interferonopathy" }, { "id": 25593, "label": "autoinflammatory syndrome of childhood" } ] }