{ "id": 21247, "label": "hereditary disorder of connective tissue", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0023603", "properties": { "xrefs": [ "MEDGEN:473110", "NCIT:C97075", "SCTID:363045008", "UMLS:C0410787" ], "synonyms": [ "Mendelian connective tissue disorder", "connective tissue hereditary disorder", "hereditary connective tissue disorder", "Hereditary Connective Tissue Disorder", "Inherited disorder of connective tissue", "inherited disorder of connective tissue" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." }, "isLeaf": false, "isRoot": false, "child_count": 88, "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": 5762, "label": "connective tissue disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:65", "EFO:1001986", "MEDGEN:1098", "MESH:D003240", "NANDO:2100172", "NCIT:C26729", "SCTID:105969002", "UMLS:C0009782" ], "synonyms": [ "connective tissue disease", "connective tissue disease or disorder", "connective tissue diseases", "connective tissue disorder", "connective tissue disorders", "disease of connective tissue", "disease or disorder of connective tissue", "disease, connective tissue", "disorder of connective tissue", "primary disorder of connective tissue", "tissue disease, connective" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A disease involving the connective tissue." }, "child_count": 16, "reference_id": "MONDO:0003900" } ], "children": [ { "id": 4676, "label": "Ewing sarcoma of bone", "isLeaf": true, "isRoot": false, "parents": [ 13857, 20297, 20361, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3368", "GARD:0023194", "ICD9:170.9", "MEDGEN:108438", "NCIT:C4835", "SCTID:307608006", "UMLS:C0585474" ], "synonyms": [ "Ewing sarcoma of bone", "Ewing's sarcoma of bone", "Ewing's sarcoma, osseous", "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumour", "bone Ewing's sarcoma", "bone localised Ewing sarcoma", "bone localised Ewing's sarcoma", "bone tissue Ewing sarcoma", "localised skeletal Ewing's sarcoma", "osseous Ewing's sarcoma", "osseous Ewing's tumor", "osseous Ewing's tumour", "skeletal Ewing's sarcoma", "skeletal Ewing's tumor", "skeletal Ewing's tumour" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor." }, "child_count": 0, "reference_id": "MONDO:0002625" }, { "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": 8476, "label": "acroosteolysis dominant type", "isLeaf": true, "isRoot": false, "parents": [ 2903, 5126, 7203, 8475, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2736", "GARD:0000508", "ICD9:756.59", "MEDGEN:182961", "MESH:C531695", "MESH:C535663", "MESH:C537586", "NCIT:C84745", "NORD:1214", "OMIM:102500", "Orphanet:955", "SCTID:63122002", "UMLS:C0917715" ], "synonyms": [ "Arthrodentoosteodysplasia", "Cheney syndrome", "Hajdu Cheney Syndrome", "Hajdu-Cheney syndrome", "Hajdu-Cheney syndrome-NOTCH2", "acrodentoosteodysplasia", "acroosteolysis with osteoporosis and changes in skull and mandible", "serpentine fibula polycystic kidney syndrome", "serpentine fibula-polycystic kidney syndrome", "serpentine fibula-polycystic kidneys syndrome", "HJCYS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present." }, "child_count": 0, "reference_id": "MONDO:0007057" }, { "id": 8610, "label": "diaphyseal medullary stenosis-bone malignancy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18958, 21247, 24863 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080664", "GARD:0010072", "MEDGEN:350613", "NCIT:C122660", "OMIM:112250", "Orphanet:85182", "UMLS:C1862177" ], "synonyms": [ "DMS-MFH", "Hardcastle syndrome", "Hardcastle's syndrome", "bone dysplasia-medullary fibrosarcoma syndrome", "diaphyseal medullary stenosis-bone malignancy syndrome", "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome", "BDMF", "DMSMFH", "bone dysplasia with malignant fibrous histiocytoma", "bone dysplasia with medullary fibrosarcoma", "diaphyseal medullary stenosis with malignant fibrous histiocytoma", "myopathy, limb-girdle, with bone fragility" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." }, "child_count": 0, "reference_id": "MONDO:0007205" }, { "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": 8717, "label": "chondrocalcinosis 2", "isLeaf": true, "isRoot": false, "parents": [ 3545, 7203, 18954, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001292", "MEDGEN:163633", "MESH:C563162", "NORD:930", "OMIM:118600", "Orphanet:1416", "UMLS:C0856830" ], "synonyms": [ "Familial Calcium Pyrophosphate Deposition Disease", "calcium pyrophosphate dihydrate crystal deposition disease", "chondrocalcinosis 2", "chondrocalcinosis type 2", "familial CC", "familial CPPD", "familial articular chondrocalcinosis", "familial calcium pyrophosphate deposition", "familial calcium pyrophosphate dihydrate deposition disease", "hereditary CC", "hereditary articular chondrocalcinosis", "hereditary calcium pyrophosphate deposition", "CCAL2", "CPPDD", "Pseudogout, familial", "calcium gout", "calcium gout, familial", "calcium pyrophosphate arthropathy", "calcium pyrophosphate arthropathy, familial", "calcium pyrophosphate dihydrate deposition disease", "chondrocalcinosis familial articular", "chondrocalcinosis, familial articular" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." }, "child_count": 0, "reference_id": "MONDO:0007319" }, { "id": 8976, "label": "desmoid tumor", "isLeaf": false, "isRoot": false, "parents": [ 6765, 7941, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080366", "EFO:0009907", "GARD:0001820", "ICDO:8821/1", "MEDGEN:38187", "MESH:D018222", "NCIT:C9182", "NORD:1049", "OMIM:135290", "ONCOTREE:DES", "Orphanet:873", "UMLS:C0079218" ], "synonyms": [ "aggressive fibromatosis", "deep fibromatosis", "deep fibromatosis/desmoid tumor", "deep fibromatosis/desmoid tumour", "desmoid fibromatosis", "desmoid tumor", "desmoid type fibromatosis", "desmoid-type fibromatosis", "FIF", "desmoid disease, hereditary", "desmoid disorder, hereditary", "desmoid/aggressive fibromatosis", "familial infiltrative fibromatosis", "fibromatosis, familial infiltrative" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." }, "child_count": 3, "reference_id": "MONDO:0007608" }, { "id": 9019, "label": "familial ossifying fibroma", "isLeaf": true, "isRoot": false, "parents": [ 4254, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017713", "MEDGEN:501159", "MESH:C563017", "OMIM:137575", "Orphanet:435329", "UMLS:C3495361" ], "synonyms": [ "hereditary ossifying fibroma (disease)", "multiple ossifying fibroma", "Cementomas, familial multiple", "GIGANTIFORM cementoma, familial", "Jaffe-Campanacci syndrome", "cemental dysplasia, periapical", "intracortical fibrous dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome." }, "child_count": 0, "reference_id": "MONDO:0007660" }, { "id": 9116, "label": "hyperparathyroidism 1", "isLeaf": true, "isRoot": false, "parents": [ 16003, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018253", "MEDGEN:333554", "MESH:C564166", "OMIM:145000", "UMLS:C1840402" ], "synonyms": [ "hyperparathyroidism 1", "hyperparathyroidism type 1", "hyperparathyroidism, familial primary", "HRPT1", "hyperparathyroidism, familial isolated primary", "parathyroid adenoma, familial" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0007767" }, { "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": 9222, "label": "uterine corpus leiomyoma", "isLeaf": false, "isRoot": false, "parents": [ 3776, 6889, 20643, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13223", "EFO:0000731", "GARD:0024585", "HP:0000131", "ICD10CM:D25", "ICD9:218", "ICD9:218.9", "MEDGEN:21801", "NCIT:C3434", "OMIM:150699", "ONCOTREE:ULM", "SCTID:95315005", "UMLS:C0042133" ], "synonyms": [ "body of uterus fibroid", "body of uterus leiomyoma", "corpus uteri fibroid", "corpus uteri leiomyoma", "fibroid of body of uterus", "fibroid of corpus uteri", "fibroid of the body of uterus", "fibroid of the corpus uteri", "fibroid of the uterine body", "fibroid of the uterine corpus", "fibroid of uterine body", "fibroid of uterine corpus", "leiomyoma of body of uterus", "leiomyoma of corpus uteri", "leiomyoma of the body of uterus", "leiomyoma of the corpus uteri", "leiomyoma of the uterine body", "leiomyoma of the uterine corpus", "leiomyoma of uterine body", "leiomyoma of uterine corpus", "uterine body fibroid", "uterine body leiomyoma", "uterine corpus fibroid", "uterine corpus leiomyoma", "uterine corpus leiomyomata", "uterine fibroid", "UL", "leiomyoma, uterine", "uterine leiomyoma", "uterus fibroma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." }, "child_count": 44, "reference_id": "MONDO:0007886" }, { "id": 9241, "label": "multiple symmetric lipomatosis", "isLeaf": false, "isRoot": false, "parents": [ 3052, 8054, 19144, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14116", "EFO:1000737", "GARD:0006957", "MEDGEN:7349", "NCIT:C4392", "NORD:1392", "OMIM:151800", "Orphanet:2398", "SCTID:238902007", "UMLS:C0023804" ], "synonyms": [ "Madelung disease", "Launois-Bensaude lipomatosis", "Madelung's Disease", "cephalothoracic lipodystrophy", "cervical symmetrical lipomatosis", "familial benign cervical lipomatosis", "lipodystrophy, cephalothoracic", "lipomatosis, familial benign cervical", "multiple symmetric lipomatosis", "multiple symmetrical lipomatosis", "Launois-Bensaude syndrome", "MSL", "Madelung's disease", "benign symmetrical lipomatosis", "familial symmetric lipomatosis", "lipomatosis, multiple symmetric" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." }, "child_count": 4, "reference_id": "MONDO:0007908" }, { "id": 9248, "label": "systemic lupus erythematosus", "isLeaf": false, "isRoot": false, "parents": [ 6454, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9074", "HP:0002725", "ICD10CM:M32", "ICD10WHO:M32", "ICD9:710.0", "MEDGEN:6146", "MESH:D008180", "NANDO:1200272", "NANDO:2200416", "NCIT:C3201", "NORD:1380", "OMIM:152700", "OMIMPS:601744", "Orphanet:536", "SCTID:55464009", "UMLS:C0024141", "icd11.foundation:749596428" ], "synonyms": [ "Lupus", "SLE", "SLE - lupus erythematosus, systemic", "disseminated lupus erythematosus", "lupus erythematosus, systemic", "systemic lupus erythematosus", "systemic lupus erythematosus (disease)", "systemic lupus erythematosus susceptibility to" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, "child_count": 20, "reference_id": "MONDO:0007915" }, { "id": 9456, "label": "Ollier disease", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18958, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4624", "GARD:0007251", "ICD10CM:Q78.4", "MEDGEN:41775", "MedDRA:10014642", "NANDO:2200049", "NANDO:2201015", "NCIT:C3008", "NORD:1526", "OMIM:166000", "Orphanet:296", "SCTID:268274005", "UMLS:C0014084", "icd11.foundation:1648299787" ], "synonyms": [ "Ollier disease", "Ollier type enchondromatosis", "Ollier's disease", "dyschondroplasia", "osteochondromatosis", "enchondromatosis", "enchondromatosis, multiple, Ollier type", "multiple cartilaginous enchondroses", "multiple enchondromatosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." }, "child_count": 0, "reference_id": "MONDO:0008145" }, { "id": 9538, "label": "Peyronie disease", "isLeaf": true, "isRoot": false, "parents": [ 8333, 16673, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8616", "ICD10CM:N48.6", "ICD9:607.85", "MEDGEN:10629", "NCIT:C3316", "OMIM:171000", "Orphanet:2870", "UMLS:C0030848" ], "synonyms": [ "Peyronie disease", "Peyronie's disease", "Peyronie's fibromatosis", "penile fibromatosis", "penile induration", "penis fibromatosis" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." }, "child_count": 0, "reference_id": "MONDO:0008231" }, { "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": 9814, "label": "Blau syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19178, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050678", "GARD:0000304", "ICD9:692.9", "ICD9:714.89", "MEDGEN:1684759", "MESH:C538157", "MedDRA:10071755", "NANDO:1200476", "NANDO:2200434", "NCIT:C116794", "OMIM:186580", "OMIM:609464", "Orphanet:90340", "Orphanet:90341", "SCTID:699861000", "UMLS:C5201146", "icd11.foundation:382488319" ], "synonyms": [ "BLAUS", "Blau syndrome", "EOS", "Jabs syndrome", "arthrocutaneouveal granulomatosis", "early-onset sarcoidosis", "granulomatosis, familial juvenile systemic", "granulomatosis, familial, Blau type", "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial", "paediatric granulomatous arthritis", "pediatric granulomatous arthritis", "sarcoidosis, early-onset", "ACUG", "synovitis granulomatous with uveitis and cranial neuropathies", "synovitis, granulomatous, with uveitis and cranial neuropathies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." }, "child_count": 0, "reference_id": "MONDO:0008523" }, { "id": 9869, "label": "inherited torticollis", "isLeaf": true, "isRoot": false, "parents": [ 6765, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004908", "HP:0000473", "ICD9:723.5", "MEDGEN:11859", "MESH:C535425", "NCIT:C4811", "OMIM:189600", "SCTID:268240006", "SCTID:70070008", "UMLS:C0040485" ], "synonyms": [ "congenital torticollis", "fibromatosis colli", "inherited torticollis (disease)", "torticollis", "congenital muscular torticollis", "congenital sternomastoid torticollis", "congenital wry neck", "congenital wryneck", "contracture of sternocleidomastoid muscle", "familial spasmodic torticollis", "familial torticollis", "torticollis, congenital", "torticollis, familial" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation." }, "child_count": 0, "reference_id": "MONDO:0008583" }, { "id": 10086, "label": "arterial tortuosity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7065, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050645", "GARD:0000774", "ICD10CM:Q87.82", "MEDGEN:347942", "MESH:C565942", "NORD:803", "OMIM:208050", "Orphanet:3342", "SCTID:458432002", "UMLS:C1859726", "icd11.foundation:371764699" ], "synonyms": [ "arterial tortuosity syndrome", "ATS", "arterial tortuosity" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries." }, "child_count": 0, "reference_id": "MONDO:0008818" }, { "id": 10095, "label": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7203, 7611, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090127", "EFO:0009028", "GARD:0000306", "MEDGEN:349226", "MESH:C537560", "OMIM:208250", "Orphanet:2848", "UMLS:C1859690" ], "synonyms": [ "CACP", "CACP syndrome", "Jacobs syndrome", "PAC syndrome", "arthropathy-camptodactyly syndrome", "camptodactyly-arthropathy-coxa vara-pericarditis syndrome", "camptodactyly-arthropathy-pericarditis syndrome", "pericarditis-arthropathy-camptodactyly syndrome", "arthropathy camptodactyly syndrome", "camptodactyly arthropathy coxa vara pericarditis syndrome", "camptodactyly arthropathy pericarditis syndrome", "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome", "fibrosing serositis, familial", "hypertrophic synovitis, congenital familial", "pericarditis arthropathy camptodactyly syndrome" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis." }, "child_count": 0, "reference_id": "MONDO:0008828" }, { "id": 10235, "label": "chondrosarcoma", "isLeaf": false, "isRoot": false, "parents": [ 6816, 20678, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3371", "EFO:0000333", "GARD:0006055", "HP:0006765", "ICD9:170.9", "ICDO:9220/3", "MEDGEN:3054", "MESH:D002813", "MedDRA:10008734", "NANDO:2200050", "NCIT:C2946", "OMIM:215300", "ONCOTREE:CHS", "Orphanet:55880", "SCTID:443520009", "UMLS:C0008479" ], "synonyms": [ "chondrosarcoma", "chondrosarcoma (disease)", "chondrosarcoma, malignant", "chondrosarcoma, somatic mutation", "chondrosarcoma of bone", "primary chondrosarcoma of the bone" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion." }, "child_count": 12, "reference_id": "MONDO:0008977" }, { "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": 10485, "label": "brittle cornea syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3211, 7611, 19720, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14775", "GARD:0001019", "OMIMPS:229200", "Orphanet:90354", "SCTID:719096006" ], "synonyms": [ "brittle cornea syndrome", "brittle cornea syndrome type 1", "kyphoscoliosis type", "brittle cornea syndrome 2", "BCS1", "EDS VIB (formerly)", "Ehlers-Danlos syndrome type 6B (formerly)", "Ehlers-Danlos syndrome type 6b", "brittle cornea syndrome 1" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility." }, "child_count": 8, "reference_id": "MONDO:0009242" }, { "id": 10629, "label": "neonatal severe primary hyperparathyroidism", "isLeaf": true, "isRoot": false, "parents": [ 16897, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002838", "MEDGEN:331326", "MESH:C563375", "NCIT:C131853", "OMIM:239200", "Orphanet:417", "SCTID:715218009", "UMLS:C1832615", "icd11.foundation:1929875111" ], "synonyms": [ "NSHPT", "hyperparathyroidism, neonatal", "Nsph", "hyperparathyroidism, neonatal severe", "hyperparathyroidism, neonatal severe primary", "neonatal severe hyperparathyroidism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." }, "child_count": 0, "reference_id": "MONDO:0009397" }, { "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": 11021, "label": "chronic recurrent multifocal osteomyelitis", "isLeaf": false, "isRoot": false, "parents": [ 6951, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060645", "GARD:0006108", "HP:0002754", "ICD10CM:M86.3", "MEDGEN:140822", "MESH:C535456", "NANDO:1200869", "NANDO:2200438", "NCIT:C119042", "OMIMPS:609628", "Orphanet:324964", "SCTID:240151005", "UMLS:C0410422", "icd11.foundation:1256384247" ], "synonyms": [ "CNO/CRMO", "CRMO", "NBO", "chronic multifocal osteomyelitis", "chronic recurrent multifocal osteomyelitis", "chronic recurrent multifocal osteomyelitis (disease)", "non-bacterial osteomyelitis", "CMO", "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis", "multifocal osteomyelitis, chronic", "osteomyelitis, chronic multifocal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." }, "child_count": 9, "reference_id": "MONDO:0009813" }, { "id": 11045, "label": "Pelger-Huet-like anomaly and episodic fever with abdominal pain", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061077", "GARD:0024698", "MEDGEN:376692", "MESH:C564899", "OMIM:260570", "UMLS:C1850054" ], "synonyms": [ "Pelger-Huet-like anomaly and episodic fever with abdominal pain", "immunodeficiency 108 with autoinflammation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε." }, "child_count": 0, "reference_id": "MONDO:0009842" }, { "id": 11094, "label": "acquired polycythemia vera", "isLeaf": true, "isRoot": false, "parents": [ 3363, 20110, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8997", "EFO:0002429", "GARD:0007422", "ICD10CM:D45", "ICD9:238.4", "ICDO:9950/3", "MEDGEN:45996", "MESH:D011087", "MedDRA:10036057", "NANDO:2100186", "NANDO:2200643", "NCIT:C3336", "OMIM:263300", "ONCOTREE:PV", "Orphanet:729", "UMLS:C0032463", "icd11.foundation:818364947" ], "synonyms": [ "Osler-Vaquez disease", "PV", "Vaquez disease", "acquired primary erythrocytosis", "polycythaemia rubra vera", "polycythemia rubra vera", "polycythemia vera", "polycythemia vera, somatic", "PRV", "primary polycythemia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." }, "child_count": 0, "reference_id": "MONDO:0009891" }, { "id": 11128, "label": "autosomal recessive inherited pseudoxanthoma elasticum", "isLeaf": true, "isRoot": false, "parents": [ 7611, 21247, 23842 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2738", "GARD:0024699", "ICD9:757.39", "MESH:D011561", "MedDRA:10037150", "NCIT:C85036", "NORD:1629", "OMIM:264800", "Orphanet:758", "SCTID:402782006", "SCTID:72744008", "icd11.foundation:1516160852" ], "synonyms": [ "AR inherited pseudoxanthoma elasticum", "Gronblad-Strandberg syndrome", "Gronblad-Strandberg-Touraine syndrome", "PXE", "Pseudoxanthoma Elasticum", "Gronblad Strandberg syndrome", "PXE, modifier of severity of", "pseudoxanthoma elasticum", "pseudoxanthoma elasticum, modifier of severity of" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autosomal recessive form of PXE." }, "child_count": 0, "reference_id": "MONDO:0009925" }, { "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": 11768, "label": "CHILD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3036, 6801, 16089, 16607, 17598, 19104, 19476, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111822", "GARD:0006039", "ICD9:759.89", "MEDGEN:82697", "MESH:C562515", "NANDO:1200629", "NANDO:2200998", "NANDO:2201358", "NORD:1284", "OMIM:308050", "Orphanet:139", "SCTID:17608003", "UMLS:C0265267" ], "synonyms": [ "CHILD syndrome", "CHILD syndrome, X-linked dominant", "Ichthyosis, CHILD Syndrome", "child nevus", "child syndrome", "congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "congenital hemidysplasia with ichthyosiform nevus and limb defects", "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs", "ichthyosis, child syndrome" ], "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" } ], "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." }, "child_count": 0, "reference_id": "MONDO:0010621" }, { "id": 12350, "label": "ossification of the posterior longitudinal ligament of the spine", "isLeaf": true, "isRoot": false, "parents": [ 6893, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060887", "EFO:0005895", "GARD:0027799", "MEDGEN:355447", "MESH:C537143", "NANDO:1200371", "NCIT:C84975", "OMIM:602475", "SCTID:90448008", "UMLS:C1865343" ], "synonyms": [ "OPLL", "ossification of Posterior longitudinal ligament", "ossification of the POSTERIOR longitudinal ligament of spine" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." }, "child_count": 0, "reference_id": "MONDO:0011230" }, { "id": 12536, "label": "MASS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17132, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008489", "MEDGEN:346932", "MESH:C536030", "OMIM:604308", "Orphanet:99715", "UMLS:C1858556" ], "synonyms": [ "MASS phenotype", "MASS syndrome", "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings", "OCTD", "overlap connective tissue disease" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms." }, "child_count": 0, "reference_id": "MONDO:0011431" }, { "id": 12566, "label": "pyogenic arthritis-pyoderma gangrenosum-acne syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6778, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080519", "GARD:0009176", "MEDGEN:346801", "MESH:C536253", "NANDO:1200868", "NANDO:2200437", "NCIT:C119055", "OMIM:604416", "Orphanet:69126", "SCTID:724015007", "UMLS:C1858361" ], "synonyms": [ "FRA", "PAPA", "familial recurrent arthritis", "fra", "papa", "papa syndrome", "Papas", "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne", "pyogenic arthritis, pyoderma gangrenosum and acne", "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin." }, "child_count": 0, "reference_id": "MONDO:0011462" }, { "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": 13031, "label": "sweet syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7203, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080746", "GARD:0000521", "ICD9:702.8", "MEDGEN:43097", "MESH:D016463", "MedDRA:10000748", "NCIT:C85177", "NORD:1749", "OMIM:608068", "Orphanet:3243", "SCTID:84625002", "UMLS:C0085077", "icd11.foundation:195212152" ], "synonyms": [ "acute febrile neutrophilic dermatosis", "sweet syndrome", "Afnd", "Gomm button disease", "Gomm-button disease", "neutrophilic dermatosis, acute febrile" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis." }, "child_count": 0, "reference_id": "MONDO:0011959" }, { "id": 13067, "label": "chronic myelogenous leukemia, BCR-ABL1 positive", "isLeaf": false, "isRoot": false, "parents": [ 6429, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081088", "DOID:8552", "EFO:0000339", "GARD:0006105", "ICD9:205.1", "ICDO:9863/3", "ICDO:9875/3", "MEDGEN:75993", "MedDRA:10009013", "NANDO:2200013", "NCIT:C3174", "OMIM:608232", "ONCOTREE:CML", "Orphanet:521", "UMLS:C0279543" ], "synonyms": [ "BCR-ABL Positive chronic myelogenous leukaemia", "BCR-ABL Positive chronic myelogenous leukemia", "CML", "CML - chronic myelogenous leukaemia", "CML - chronic myelogenous leukemia", "chronic granulocytic leukemia", "chronic myelocytic leukaemia", "chronic myelocytic leukemia", "chronic myelogenous leukaemia (CML)", "chronic myelogenous leukemia", "chronic myelogenous leukemia (CML)", "chronic myelogenous leukemia, BCR-ABL1 Positive", "chronic myelogenous leukemias", "chronic myeloid leukemia", "hematopoeitic - chronic myelocytic leukaemia (CML)", "hematopoeitic - chronic myelocytic leukemia (CML)", "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation", "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic", "myeloid leukemia, chronic", "leukemia, chronic myelogenous", "leukemia, chronic myeloid", "leukemia, chronic myeloid, atypical" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival." }, "child_count": 6, "reference_id": "MONDO:0011996" }, { "id": 13457, "label": "hyperparathyroidism 3", "isLeaf": true, "isRoot": false, "parents": [ 16003, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018255", "MEDGEN:355277", "MESH:C566450", "OMIM:610071", "UMLS:C1864729" ], "synonyms": [ "HRPT3", "hyperparathyroidism 3", "hyperparathyroidism, familial isolated" ], "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" } ] }, "child_count": 0, "reference_id": "MONDO:0012406" }, { "id": 13932, "label": "bone fragility with contractures, arterial rupture, and deafness", "isLeaf": true, "isRoot": false, "parents": [ 19507, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061197", "GARD:0017362", "MEDGEN:382811", "MESH:C567320", "OMIM:612394", "Orphanet:300284", "SCTID:763318007", "UMLS:C2676285" ], "synonyms": [ "bone fragility with contractures, arterial rupture, and deafness", "bone fragility-contractures-arterial rupture-deafness syndrome", "connective tissue disorder due to LH3 deficiency", "connective tissue disorder due to lysyl hydroxylase-3 deficiency", "LH3 deficiency", "lysyl Hydroxylase 3 deficiency" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features." }, "child_count": 0, "reference_id": "MONDO:0012892" }, { "id": 14112, "label": "encephalocraniocutaneous lipomatosis", "isLeaf": true, "isRoot": false, "parents": [ 8054, 19144, 20564, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002108", "ICD9:757.8", "MEDGEN:140807", "MESH:C535736", "NCIT:C4701", "OMIM:613001", "Orphanet:2396", "SCTID:238905009", "UMLS:C0406612", "icd11.foundation:1084215843" ], "synonyms": [ "ECCL", "Fishman syndrome", "Haberland syndrome", "encephalocraniocutaneous lipomatosis", "encephalocraniocutaneous lipomatosis, somatic mosaic" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." }, "child_count": 0, "reference_id": "MONDO:0013074" }, { "id": 14651, "label": "psoriasis 14, pustular", "isLeaf": true, "isRoot": false, "parents": [ 19129, 19503, 21247, 24217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080474", "GARD:0017679", "ICD9:696.1", "MEDGEN:581114", "NANDO:1200244", "NANDO:2200452", "NCIT:C119057", "OMIM:614204", "Orphanet:163931", "Orphanet:404546", "SCTID:83839005", "UMLS:C0392439" ], "synonyms": [ "palmoplantar pustulosis", "DITRA", "IL36RN psoriasis", "Interleukin 36 receptor antagonist deficiency", "PSORP", "PSORS14", "acrodermatitis continua of Hallopeau", "acrodermatitis continua suppurativa of Hallopeau", "deficiency of IL-36R antagonist", "deficiency of IL-36Ra", "deficiency of the interleukin-36 receptor antagonist", "familial generalised pustular psoriasis", "psoriasis 14, pustular", "psoriasis caused by mutation in IL36RN", "GPP", "generalised pustular psoriasis", "generalized pustular psoriasis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." }, "child_count": 0, "reference_id": "MONDO:0013626" }, { "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": 14955, "label": "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070615", "GARD:0017486", "MEDGEN:766875", "NANDO:2200442", "NANDO:2200451", "OMIM:614878", "Orphanet:324530", "UMLS:C3553961" ], "synonyms": [ "APLAID", "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013944" }, { "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": 15816, "label": "progeroid and marfanoid aspect-lipodystrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16199, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017371", "MEDGEN:934763", "OMIM:616914", "Orphanet:300382", "UMLS:C4310796" ], "synonyms": [ "Marfan lipodystrophy syndrome", "MFLS", "Marfan-progeroid-lipodystrophy syndrome", "Marfanoid-progeroid syndrome" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014831" }, { "id": 15821, "label": "thrombocytopenia 6", "isLeaf": true, "isRoot": false, "parents": [ 18746, 19727, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017870", "MEDGEN:934756", "OMIM:616937", "Orphanet:480851", "UMLS:C4310789" ], "synonyms": [ "hereditary thrombocytopenia with early-onset myelofibrosis", "thrombocytopenia 6", "thrombocytopenia type 6", "THC6", "thrombocytopenia, autosomal dominant, 6" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014837" }, { "id": 16414, "label": "multiple epiphyseal dysplasia due to collagen 9 anomaly", "isLeaf": false, "isRoot": false, "parents": [ 6394, 17117, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070305", "GARD:0015024", "MEDGEN:1647610", "NANDO:2201016", "Orphanet:166002", "SCTID:766717008", "UMLS:C4707798", "icd11.foundation:741183905" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported." }, "child_count": 9, "reference_id": "MONDO:0015627" }, { "id": 16644, "label": "Ehlers-Danlos syndrome, kyphoscoliotic type 1", "isLeaf": true, "isRoot": false, "parents": [ 7019, 7611, 19720, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080734", "GARD:0022216", "MEDGEN:75672", "MESH:C536198", "NANDO:1200649", "NANDO:2201259", "NCIT:C125700", "OMIM:225400", "Orphanet:1900", "SCTID:718211004", "UMLS:C0268342" ], "synonyms": [ "EDS 6", "EDS, kyphoscoliotic type", "EDS, oculoscoliotic type", "EDS6", "Ehlers-Danlos syndrome kyphoscoliotic type", "Ehlers-Danlos syndrome, kyphoscoliotic type", "Ehlers-Danlos syndrome, kyphoscoliotic type 1", "Ehlers-Danlos syndrome, oculoscoliotic type", "Ehlers-Danlos syndrome, type 6", "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency", "nevo syndrome", "EDS VIA", "Ehlers-Danlos syndrome type 6A", "Ehlers-Danlos syndrome, type VIA", "Ehlers-Danlos syndrome, type VIA, formerly", "Ehlers-Danlos syndrome, type Via", "Ehlers-Danlos syndrome, type Via, formerly", "EDS 6 (formerly)", "EDS VI", "EDS6A, formerly", "EDSKSCL1", "Ehlers-Danlos syndrome oculoscoliotic type", "Ehlers-Danlos syndrome type 6 (formerly)", "Ehlers-Danlos syndrome type 6A (formerly)", "Ehlers-Danlos syndrome, kyphoscoliosis type", "Ehlers-Danlos syndrome, kyphoscoliotic type, 1", "Ehlers-Danlos syndrome, ocular-scoliotic type", "Ehlers-Danlos syndrome, type 6 A", "Ehlers-Danlos syndrome, type VI", "kEDS", "kyphoscoliotic EDS", "kyphoscoliotic Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." }, "child_count": 0, "reference_id": "MONDO:0016002" }, { "id": 16703, "label": "juvenile hyaline fibromatosis", "isLeaf": true, "isRoot": false, "parents": [ 4409, 7941, 10472, 18958, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016583", "ICD9:733.29", "MEDGEN:411197", "NCIT:C98297", "Orphanet:2028", "SCTID:238861002", "UMLS:C2745948", "icd11.foundation:1890146024" ], "synonyms": [ "Molluscum fibrosum", "Murray-Puretic-Drescher syndrome", "Puretic syndrome", "mesenchymal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." }, "child_count": 0, "reference_id": "MONDO:0016071" }, { "id": 17037, "label": "IL10-related early-onset inflammatory bowel disease", "isLeaf": false, "isRoot": false, "parents": [ 5658, 6965, 7203, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013016", "MEDGEN:1661450", "NANDO:2200446", "Orphanet:238569", "UMLS:C4749850" ], "synonyms": [ "IL10-related early-onset IBD", "IL10-related early-onset inflammatory bowel disease", "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome", "autosomal recessive early-onset IBD", "autosomal recessive early-onset inflammatory bowel disease" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma." }, "child_count": 8, "reference_id": "MONDO:0016542" }, { "id": 17250, "label": "infantile myofibromatosis", "isLeaf": false, "isRoot": false, "parents": [ 5278, 21247, 23337 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080109", "GARD:0002998", "ICDO:8824/1", "MEDGEN:140933", "MESH:D018224", "NCIT:C3742", "NORD:1301", "OMIMPS:228550", "ONCOTREE:IMS", "Orphanet:2591", "UMLS:C0432284" ], "synonyms": [ "infantile hemangiopericytoma", "infantile myofibromatosis", "multicentric myofibromatosis", "myofibromatosis", "IMS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." }, "child_count": 6, "reference_id": "MONDO:0016824" }, { "id": 17630, "label": "Marfan and Marfan-related disorder", "isLeaf": false, "isRoot": false, "parents": [ 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021129", "MEDGEN:1842966", "Orphanet:284993", "UMLS:C5681015" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0017310" }, { "id": 17718, "label": "neonatal inflammatory skin and bowel disease", "isLeaf": false, "isRoot": false, "parents": [ 6965, 19129, 19503, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017355", "MEDGEN:1648296", "OMIMPS:614328", "Orphanet:294023", "UMLS:C4751120" ], "synonyms": [ "inflammatory skin and bowel disease, neonatal" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "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": "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis." }, "child_count": 10, "reference_id": "MONDO:0017411" }, { "id": 18043, "label": "familial isolated pituitary adenoma", "isLeaf": false, "isRoot": false, "parents": [ 7896, 21247, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010959", "MEDGEN:436629", "OMIMPS:102200", "Orphanet:314777", "SCTID:702375004", "UMLS:C2676191" ], "synonyms": [ "FIPA" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 18, "reference_id": "MONDO:0017824" }, { "id": 18103, "label": "inherited acute myeloid leukemia", "isLeaf": false, "isRoot": false, "parents": [ 18806, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017450", "MEDGEN:1634915", "NCIT:C7175", "Orphanet:319465", "SCTID:764940002", "UMLS:C4707228" ], "synonyms": [ "Pure familial AML", "Pure familial acute myeloid leukaemia", "Pure familial acute myeloid leukemia", "familial AML", "hereditary acute myeloid leukaemia", "hereditary acute myeloid leukemia", "inherited AML" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome." }, "child_count": 6, "reference_id": "MONDO:0017893" }, { "id": 18150, "label": "hereditary periodic fever syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16077, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021453", "MEDGEN:199651", "MESH:D056660", "Orphanet:324924", "UMLS:C0751422" ], "synonyms": [ "hereditary periodic fever syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome." }, "child_count": 12, "reference_id": "MONDO:0017953" }, { "id": 18168, "label": "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis", "isLeaf": true, "isRoot": false, "parents": [ 4502, 6778, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017494", "MEDGEN:1720168", "Orphanet:329173", "UMLS:C5394674" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017992" }, { "id": 18759, "label": "aneurysmal bone cyst", "isLeaf": true, "isRoot": false, "parents": [ 18958, 21247 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001760", "GARD:0021982", "HP:0012063", "ICD10CM:M85.5", "ICD9:733.22", "MEDGEN:57758", "MESH:D017824", "NCIT:C3516", "OMIM:606179", "Orphanet:480553", "SCTID:203468000", "UMLS:C0152244", "icd11.foundation:1603788294" ], "synonyms": [ "ABC", "aneurysmal bone cyst", "aneurysmal bone cyst (disease)", "aneurysmal bone cysts", "aneurysmal cyst of bone", "aneurysmal cyst of the bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." }, "child_count": 0, "reference_id": "MONDO:0018815" }, { "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" }, { "id": 19238, "label": "idiopathic juvenile osteoporosis", "isLeaf": true, "isRoot": false, "parents": [ 6992, 7203, 21247, 24405 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12559", "GARD:0006760", "ICD9:733.02", "MEDGEN:120494", "MESH:C537700", "NCIT:C119996", "OMIM:259750", "Orphanet:85193", "SCTID:3345002", "UMLS:C0264080", "icd11.foundation:183642011" ], "synonyms": [ "IJO", "Ijo", "Paediatric osteoporosis", "Pediatric osteoporosis", "idiopathic juvenile osteoporosis", "juvenile osteoporosis", "osteoporosis, juvenile" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age." }, "child_count": 0, "reference_id": "MONDO:0019409" }, { "id": 20305, "label": "jugulotympanic paraganglioma", "isLeaf": false, "isRoot": false, "parents": [ 4813, 7791, 20295, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025284", "ICD9:239.7", "ICDO:8690/1", "MEDGEN:4905", "NCIT:C3061", "SCTID:127030001", "UMLS:C0017671" ], "synonyms": [ "basicranium parasympathetic paraganglioma", "glomus jugulare neoplasm", "glomus jugulare tumor", "glomus jugulare tumour", "jugular body neoplasm", "jugular body neoplasm (disease)", "jugular body tumor", "jugular body tumour", "jugular paraganglioma", "jugulotympanic paraganglioma", "neoplasm of glomus jugulare", "neoplasm of jugular body", "neoplasm of the glomus jugulare", "parasympathetic paraganglioma of basicranium", "tumor of glomus jugulare", "tumor of jugular body", "tumor of the glomus jugulare", "tumour of glomus jugulare", "tumour of jugular body", "tumour of the glomus jugulare", "Glomus tumor", "Glomus tumour", "Paraganglioma - glomus jugulare" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear." }, "child_count": 4, "reference_id": "MONDO:0021064" }, { "id": 20997, "label": "type 2 collagenopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 6394, 18360, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019186", "HGNC:2200", "MEDGEN:419326", "MESH:C535964", "NANDO:2201016", "Orphanet:93421", "UMLS:C2931073" ], "synonyms": [ "COL2A1 disease or disorder", "collagenopathy type 2 alpha 1", "disease or disorder caused by mutation in COL2A1", "COL2A1", "cartilage collagen", "collagen II" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene." }, "child_count": 56, "reference_id": "MONDO:0022800" }, { "id": 21515, "label": "hyperparathyroidism 4", "isLeaf": true, "isRoot": false, "parents": [ 16003, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018256", "MEDGEN:1386327", "OMIM:617343", "UMLS:C4479229" ], "synonyms": [ "GCM2 familial isolated hyperparathyroidism", "familial isolated hyperparathyroidism caused by mutation in GCM2", "hyperparathyroidism 4", "hyperparathyroidism type 4", "HRPT4" ], "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": "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." }, "child_count": 0, "reference_id": "MONDO:0024570" }, { "id": 21744, "label": "VEXAS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080828", "GARD:0015001", "MEDGEN:1765785", "NCIT:C181924", "OMIM:301054", "Orphanet:596753", "UMLS:C5435753" ], "synonyms": [ "VEXAS", "VEXAS syndrome, somatic", "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death." }, "child_count": 0, "reference_id": "MONDO:0026777" }, { "id": 22238, "label": "autoinflammatory syndrome, familial, Behcet-like", "isLeaf": false, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025698", "OMIMPS:616744" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0031384" }, { "id": 22739, "label": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10564, 16087, 16471, 18362, 18956, 18958, 19279, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022071", "MEDGEN:1799320", "Orphanet:508542", "UMLS:C5567897" ], "synonyms": [ "MYSM1 deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033683" }, { "id": 22750, "label": "LAMA5-related multisystemic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 7203, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022146", "MEDGEN:1806009", "Orphanet:521450", "UMLS:C5681442" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder." }, "child_count": 0, "reference_id": "MONDO:0033856" }, { "id": 23357, "label": "EMILIN-1-related connective tissue disease", "isLeaf": true, "isRoot": false, "parents": [ 19748, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021994", "MEDGEN:1814474", "Orphanet:485418", "UMLS:C5681244" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044622" }, { "id": 24651, "label": "TREX1-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026399" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations." }, "child_count": 6, "reference_id": "MONDO:0700256" }, { "id": 24652, "label": "RNASEH2B-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026400" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." }, "child_count": 2, "reference_id": "MONDO:0700257" }, { "id": 24653, "label": "RNASEH2C-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026401" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." }, "child_count": 2, "reference_id": "MONDO:0700258" }, { "id": 24654, "label": "RNASEH2A-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026402" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." }, "child_count": 2, "reference_id": "MONDO:0700259" }, { "id": 24655, "label": "SAMHD1-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026403" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus." }, "child_count": 4, "reference_id": "MONDO:0700260" }, { "id": 24656, "label": "ADAR-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026404" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria." }, "child_count": 4, "reference_id": "MONDO:0700261" }, { "id": 24657, "label": "IFIH1-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026405" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome." }, "child_count": 4, "reference_id": "MONDO:0700262" }, { "id": 24658, "label": "RNU7-1-related type 1 interferonopathy", "isLeaf": false, "isRoot": false, "parents": [ 21247, 24659 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026406" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome." }, "child_count": 2, "reference_id": "MONDO:0700263" }, { "id": 24835, "label": "autoinflammatory disease, X-linked", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026447", "MEDGEN:1811268", "OMIM:301081", "Orphanet:699605", "UMLS:C5676885" ], "synonyms": [ "NEMO deleted exon 5 syndrome", "autoinflammatory syndrome, X-linked" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy." }, "child_count": 0, "reference_id": "MONDO:0800129" }, { "id": 24836, "label": "autoinflammatory syndrome with immunodeficiency", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026448", "MEDGEN:1784363", "OMIM:619375", "UMLS:C5543547" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance." }, "child_count": 0, "reference_id": "MONDO:0800130" }, { "id": 25638, "label": "autoinflammatory disease, systemic, with vasculitis", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026806", "MEDGEN:1841161", "OMIM:620376", "UMLS:C5830525" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957271" }, { "id": 25697, "label": "autoinflammatory disease, multisystem, with immune dysregulation, X-linked", "isLeaf": false, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026852", "MEDGEN:1840213", "OMIM:301109", "UMLS:C5829577" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0957494" }, { "id": 26086, "label": "arterial tortuosity-bone fragility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7065, 7171, 21247, 23977 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028086", "MEDGEN:1855920", "OMIM:620908", "UMLS:C5935641" ], "synonyms": [ "EMILIN1-related arterial tortuosity syndrome" ], "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": "A syndromic disease with a spectrum of manifestations in the cardiovascular system and other organ systems caused by disease-causing variants in the EMILIN1 gene, inherited in an autosomal recessive manner. Affected individuals have impaired elastogenesis with defective collagen fibrillogenesis which can lead to arterial tortuosity, bone fragility and other manifestations including dysmorphic facial features, cutis laxa, joint hypermobility, congenital heart malformations, arterial stenosis, and aortic root dilatation. Cases may present prenatally or in early childhood." }, "child_count": 0, "reference_id": "MONDO:0971179" }, { "id": 29253, "label": "linkeropathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7171, 21247 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region." }, "child_count": 9, "reference_id": "MONDO:1040022" }, { "id": 29257, "label": "hypermobility spectrum disorder", "isLeaf": true, "isRoot": false, "parents": [ 21247 ], "type_id": 0, "properties": { "synonyms": [ "BJHS", "benign joint hypermobility syndrome", "joint hypermobility syndrome" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An array of connective tissue disorders characterized by joint instability and chronic pain. Fatigue and other systemic symptoms that affect daily function may occur as well. These diseases are scored using the Beighton scoring system and one of more secondary musculoskeletal manifestations including post-traumatic symptoms, pain, altered proprioception, and a variety of other characteristics like pes planus, kyphosis, scoliosis, or joint misalignment." }, "child_count": 0, "reference_id": "MONDO:1040027" }, { "id": 29259, "label": "Sharpin-related autoinflammatory syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027236" ], "synonyms": [ "sharpenia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "An autoinflammatory disease in which the cause of the disease is a variation in the Sharpin gene." }, "child_count": 0, "reference_id": "MONDO:1040029" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 5762, "label": "connective tissue disorder" } ] }