{ "id": 19720, "label": "Ehlers-Danlos syndrome", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0020066", "properties": { "xrefs": [ "DOID:13359", "GARD:0006322", "ICD10CM:Q79.6", "ICD9:756.83", "MEDGEN:41720", "MESH:D004535", "MedDRA:10014316", "NANDO:1200645", "NANDO:2200607", "NCIT:C34568", "NORD:1080", "OMIMPS:130000", "Orphanet:98249", "SCTID:398114001", "UMLS:C0013720", "icd11.foundation:1122707206" ], "synonyms": [ "Danlos Disease, Ehlers", "Danlos disease", "Disease, Ehlers Danlos", "Disease, Ehlers-Danlos", "Dystrophia mesodermalis congenita", "EDS", "Ehler Danlos Syndrome", "Ehlers Danlos Disease", "Ehlers Danlos Syndrome", "Ehlers Danlos syndrome", "Ehlers-Danlos Disease", "Ehlers-Danlos syndromes", "Fibrodysplasia elastica generalisata", "Hereditary collagen dysplasia", "Meekeren-Ehlers-Danlos syndrome", "Syndrome, Ehlers-Danlos", "danlos ehlers syndrome", "elastic skin", "skin elastic", "ED syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." }, "isLeaf": false, "isRoot": false, "child_count": 25, "parents": [ { "id": 4370, "label": "syndromic disease", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "child_count": 1182, "reference_id": "MONDO:0002254" }, { "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": 19507, "label": "developmental defect during embryogenesis", "isLeaf": false, "isRoot": false, "parents": [ 20383 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:759.7", "MEDGEN:1825997", "NCIT:C99267", "Orphanet:93890", "SCTID:400038003", "UMLS:C5680284" ], "synonyms": [ "congenital malformation syndrome", "developmental defect during embryogenesis", "disorder of embryonic morphogenesis", "embryonic morphogenesis disease", "malformation syndrome", "rare developmental defect during embryogenesis" ], "definition": "A disease that has its basis in the disruption of embryonic morphogenesis." }, "child_count": 52, "reference_id": "MONDO:0019755" } ], "children": [ { "id": 8904, "label": "Ehlers-Danlos syndrome, classic type", "isLeaf": false, "isRoot": false, "parents": [ 2903, 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002088", "MEDGEN:909864", "NANDO:1200646", "NANDO:2201256", "Orphanet:287", "SCTID:715318006", "UMLS:C4225429" ], "synonyms": [ "EDS, classic type", "Ehlers-Danlos syndrome classic type", "Ehlers-Danlos syndrome, classic type", "EDS I", "EDS I, formerly", "EDS II", "EDS II, formerly", "Ehlers Danlos syndrome, mild classic type", "Ehlers Danlos syndrome, mild classic type, formerly", "Ehlers Danlos syndrome, mitis type", "Ehlers Danlos syndrome, mitis type, formerly", "Ehlers-Danlos syndrome classical type", "Ehlers-Danlos syndrome type 1 (formerly)", "Ehlers-Danlos syndrome type 2", "Ehlers-Danlos syndrome type 2 (formerly)", "Ehlers-Danlos syndrome, gravis type", "Ehlers-Danlos syndrome, gravis type, formerly", "Ehlers-Danlos syndrome, severe classic type", "Ehlers-Danlos syndrome, severe classic type, formerly", "Ehlers-Danlos syndrome, type I", "Ehlers-Danlos syndrome, type I, formerly", "Ehlers-Danlos syndrome, type II", "Ehlers-Danlos syndrome, type II, formerly", "classic Ehlers-Danlos syndrome", "classical Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." }, "child_count": 4, "reference_id": "MONDO:0007522" }, { "id": 8905, "label": "Ehlers-Danlos syndrome, hypermobility type", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14757", "GARD:0002081", "MEDGEN:75670", "MESH:C536196", "NANDO:1200647", "NANDO:2201257", "NCIT:C125698", "OMIM:130020", "Orphanet:285", "SCTID:30652003", "UMLS:C0268337" ], "synonyms": [ "EDS III", "EDSHMB", "Ehlers-Danlos syndrome type 3", "Ehlers-Danlos syndrome type 3 (formerly)", "Ehlers-Danlos syndrome, hypermobile type", "Ehlers-Danlos syndrome, hypermobility type", "Ehlers-Danlos syndrome, type 3", "Ehlers-Danlos syndrome, type III", "HT-EDS", "EDS 3", "EDS3 (formerly)", "benign hypermobility syndrome", "hEDS", "hypermobile EDS", "hypermobile Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." }, "child_count": 0, "reference_id": "MONDO:0007523" }, { "id": 8907, "label": "Ehlers-Danlos syndrome, arthrochalasia type", "isLeaf": false, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080727", "GARD:0002084", "MEDGEN:1645042", "MESH:C562625", "NANDO:1200650", "NANDO:2201260", "NCIT:C125701", "Orphanet:1899", "SCTID:4170004", "UMLS:C4551623" ], "synonyms": [ "EDS VII", "Ehlers-Danlos syndrome type 7", "Ehlers-Danlos syndrome, arthrochalasia type", "Ehlers-Danlos syndrome, type VII", "EDS 7A", "EDS 7B", "AEDS", "EDS VII, mutant procollagen type", "EDS7A (formerly)", "EDSARTH1", "Ehlers-Danlos syndrome type 7A (formerly)", "Ehlers-Danlos syndrome, arthrochalasia type, 1", "Ehlers-Danlos syndrome, type VII, autosomal dominant", "Ehlers-Danlos syndrome, type VIIA, autosomal dominant", "arthrochalasia EDS", "arthrochalasia Ehlers-Danlos syndrome", "arthrochalasis multiplex congenita" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms." }, "child_count": 2, "reference_id": "MONDO:0007525" }, { "id": 8908, "label": "Ehlers-Danlos syndrome, spondylodysplastic type", "isLeaf": false, "isRoot": false, "parents": [ 16198, 18954, 19720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050802", "GARD:0009991", "MESH:C536201", "Orphanet:75496", "SCTID:720861000" ], "synonyms": [ "B4GALT7-CDG", "EDS, progeroid type", "PDS", "defective biosynthesis of proteodermatan sulfate", "defective biosynthesis of proteodermatan sulphate", "galactosyltransferase I deficiency", "EDSSPD1", "Ehlers-Danlos syndrome with short stature and limb anomalies", "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "Pds, defective biosynthesis of", "XGPT deficiency", "dermatan sulfate proteoglycan", "dermatan sulphate proteoglycan", "galactosyltransferase 1 deficiency", "proteodermatan sulfate, defective biosynthesis of", "xylosylprotein 4-beta-galactosyltransferase deficiency", "Ehlers-Danlos syndrome, progeroid type", "Ehlers-Danlos syndrome, progeroid type (former)", "spondylodysplastic Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." }, "child_count": 9, "reference_id": "MONDO:0007526" }, { "id": 8909, "label": "Ehlers-Danlos syndrome, periodontitis type", "isLeaf": false, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012474", "MEDGEN:82791", "MESH:C562626", "Orphanet:75392", "SCTID:50869007", "UMLS:C0268347", "icd11.foundation:893527307" ], "synonyms": [ "EDS VIII", "Ehlers-Danlos syndrome type 8", "Ehlers-Danlos syndrome, periodontitis type", "EDS 8", "EDS VIII (formerly)", "EDS8", "EDS8 (formerly)", "Ehlers-Danlos syndrome type 8 (formerly)", "Ehlers-Danlos syndrome, periodontosis type", "Ehlers-Danlos syndrome, type 8", "Ehlers-Danlos syndrome, type VIII", "Ehlers-Danlos syndrome, type VIII (formerly)", "pEDS", "periodontal EDS", "periodontal Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility." }, "child_count": 2, "reference_id": "MONDO:0007527" }, { "id": 8910, "label": "Ehlers-Danlos syndrome, autosomal dominant, type unspecified", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024561", "MEDGEN:65083", "MESH:C562424", "OMIM:130090", "UMLS:C0220679" ], "synonyms": [ "Ehlers-Danlos syndrome, autosomal dominant, type unspecified", "EDS, unspecified type", "Ehlers-Danlos syndrome, Friedman-Harrod type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0007528" }, { "id": 9178, "label": "joint laxity, familial", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003054", "MEDGEN:120629", "MESH:C535884", "OMIM:147900", "Orphanet:2295", "SCTID:71322004", "UMLS:C0268349" ], "synonyms": [ "EDS XI", "Ehlers-Danlos syndrome type 11, formerly", "Joint instability syndrome", "familial joint instability syndrome", "familial joint laxity", "joint laxity, familial", "EDS 11 (formerly)", "EDS Xi", "EDS Xi, formerly", "EDS11", "EDS11, formerly", "Ehlers-Danlos syndrome, type 11 (formerly)", "Ehlers-Danlos syndrome, type Xi", "Ehlers-Danlos syndrome, type Xi, formerly", "articular hypermobility syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance." }, "child_count": 0, "reference_id": "MONDO:0007842" }, { "id": 10402, "label": "Ehlers-Danlos syndrome, fibronectinemic type", "isLeaf": true, "isRoot": false, "parents": [ 2702, 19720, 20411 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008508", "MEDGEN:346497", "MESH:C565600", "OMIM:225310", "Orphanet:75501", "SCTID:83586000", "UMLS:C1857038" ], "synonyms": [ "EDS X", "Ehlers-Danlos syndrome type 10", "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality", "Ehlers-Danlos syndrome, fibronectin-deficient", "EDS 10", "EDS10 (formerly)", "Ehlers-Danlos syndrome type 10 (formerly)", "Ehlers-Danlos syndrome, dysfibronectinemic type", "Ehlers-Danlos syndrome, type 10", "Ehlers-Danlos syndrome, type X (formerly)", "FN Abnormality" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009158" }, { "id": 10404, "label": "Ehlers-Danlos syndrome, dermatosparaxis type", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080733", "GARD:0002089", "MEDGEN:397792", "MESH:C567527", "NANDO:1200651", "NANDO:2201261", "OMIM:225410", "Orphanet:1901", "SCTID:55711009", "UMLS:C2700425", "icd11.foundation:445808781" ], "synonyms": [ "EDS VIIC", "Ehlers-Danlos syndrome type 7C", "Ehlers-Danlos syndrome, dermatosparaxis type", "EDS 7C", "EDS7C", "EDSDERMS", "Ehlers-Danlos syndrome type 7C (formerly)", "Ehlers-Danlos syndrome, type VII, autosomal recessive", "dEDS", "dermatosparaxis", "dermatosparaxis EDS", "dermatosparaxis Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility." }, "child_count": 0, "reference_id": "MONDO:0009161" }, { "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": 11739, "label": "X-linked Ehlers-Danlos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2902, 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008505", "MEDGEN:75671", "MESH:C536197", "NCIT:C141423", "OMIM:305200", "Orphanet:75497", "SCTID:67202007", "UMLS:C0268341" ], "synonyms": [ "EDS V", "Ehlers-Danlos syndrome type 5", "Ehlers-Danlos syndrome, X-linked", "EDS 5", "EDS5", "Ehlers-Danlos syndrome, type 5", "Ehlers-Danlos syndrome, type V" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive." }, "child_count": 0, "reference_id": "MONDO:0010586" }, { "id": 12264, "label": "Ehlers-Danlos syndrome, musculocontractural type", "isLeaf": false, "isRoot": false, "parents": [ 16168, 16198, 19660, 19720, 24272 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008486", "MEDGEN:356497", "MESH:C000600608", "NANDO:1200652", "NANDO:2201262", "Orphanet:2953", "SCTID:720860004", "UMLS:C1866294" ], "synonyms": [ "ATCS", "CHST14-related EDS", "CHST14-related Ehlers-Danlos syndrome", "D4ST1-deficient EDS", "D4ST1-deficient Ehlers-Danlos syndrome", "EDS, Kosho type", "EDS, arthrogryposic type", "EDS, musculocontractural type", "Ehlers-Danlos syndrome, Kosho type", "Ehlers-Danlos syndrome, arthrogryposic type", "MCEDS", "adducted thumb-clubfoot syndrome", "adducted thumbs-arthrogryposis syndrome, Dundar type", "musculocontractural Ehlers-Danlos syndrome", "Dundar syndrome", "EDS6B, formerly", "EDSMC", "EDSMC1", "EDSmc", "Ehlers-Danlos syndrome, musculocontractural type 1", "Ehlers-Danlos syndrome, musculocontractural type, 1", "Ehlers-Danlos syndrome, type VIB, formerly", "Ehlers-Danlos syndrome, type Vib", "Ehlers-Danlos syndrome, type Vib, formerly", "adducted thumb clubfoot syndrome", "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome", "adducted thumb-club foot syndrome", "adducted thumbs Dundar type", "arthrogryposis, distal, with peculiar facies and hydronephrosis", "autosomal recessive adducted thumb-club foot syndrome", "musculocontractural EDS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations." }, "child_count": 10, "reference_id": "MONDO:0011142" }, { "id": 12760, "label": "Ehlers-Danlos syndrome due to tenascin-X deficiency", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080731", "GARD:0008507", "MEDGEN:336244", "MESH:C536193", "OMIM:606408", "Orphanet:230839", "UMLS:C1848029", "icd11.foundation:1840696236" ], "synonyms": [ "EDS, classic-like type", "Ehlers-Danlos syndrome due to tenascin-X deficiency", "Ehlers-Danlos syndrome, classic-like type", "Ehlers-Danlos syndrome, classic-like, 1", "EDS due to TNX deficiency", "EDS due to Tnx deficiency", "EDSCLL", "Ehlers-Danlos syndrome, classic-like", "Ehlers-Danlos-like syndrome due to tenascin-X deficiency", "TNX deficiency", "Tnx deficiency", "clEDS", "classical-like EDS", "classical-like Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011670" }, { "id": 13180, "label": "Ehlers-Danlos syndrome, Beasley-Cohen type", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010102", "MEDGEN:332459", "MESH:C536199", "OMIM:608763", "UMLS:C1837462" ], "synonyms": [ "Ehlers-Danlos syndrome, Beasley-Cohen type", "Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract", "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0012114" }, { "id": 14817, "label": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017361", "MEDGEN:482790", "OMIM:614557", "Orphanet:300179", "SCTID:720859009", "UMLS:C3281160" ], "synonyms": [ "EDS with progressive kyphoscoliosis, myopathy, and deafness", "EDS with progressive kyphoscoliosis, myopathy, and hearing loss", "EDS, kyphoscoliotic and hearing loss type", "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness", "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss", "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type", "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type", "Ehlers-Danlos syndrome, kyphoscoliotic type, 2", "EDSKMH", "EDSKSCL2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment." }, "child_count": 0, "reference_id": "MONDO:0013800" }, { "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": 16979, "label": "Ehlers-Danlos syndrome, vascular-like type", "isLeaf": true, "isRoot": false, "parents": [ 7065, 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025076", "Orphanet:230845", "SCTID:720862007", "icd11.foundation:240424885" ], "synonyms": [ "EDS, vascular-like type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." }, "child_count": 0, "reference_id": "MONDO:0016469" }, { "id": 16980, "label": "Ehlers-Danlos/osteogenesis imperfecta syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017156", "MEDGEN:1386497", "MESH:C565178", "OMIMPS:619115", "Orphanet:230857", "UMLS:C4518787" ], "synonyms": [ "EDS/OI syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures." }, "child_count": 2, "reference_id": "MONDO:0016470" }, { "id": 17633, "label": "Ehlers-Danlos syndrome, vascular type", "isLeaf": false, "isRoot": false, "parents": [ 7065, 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002082", "MEDGEN:82790", "NANDO:1200648", "NANDO:2201258", "NCIT:C125699", "Orphanet:286", "SCTID:17025000", "UMLS:C0268338", "icd11.foundation:1202686415" ], "synonyms": [ "EDS IV", "EDS type 4", "Ehlers-Danlos syndrome type 4", "Ehlers-Danlos syndrome type IV", "Ehlers-Danlos syndrome, type IV", "Ehlers-Danlos syndrome, vascular type", "sack-Barabas syndrome", "EDS IV (formerly)", "EDS type 4 (formerly)", "EDS4 (formerly)", "Ehlers Danlos syndrome, arterial type", "Ehlers Danlos syndrome, ecchymotic type", "Ehlers Danlos syndrome, sack-Barabas type", "Ehlers-Danlos syndrome type 4 (formerly)", "Ehlers-Danlos syndrome type IV (formerly)", "vEDS", "vascular EDS", "vascular Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS." }, "child_count": 4, "reference_id": "MONDO:0017314" }, { "id": 22763, "label": "spondylodysplastic Ehlers-Danlos syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19720, 29253 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022214", "MEDGEN:1814455", "Orphanet:536471", "UMLS:C5680154" ], "synonyms": [ "spondylodysplastic EDS" ], "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:0034021" }, { "id": 22764, "label": "Bethlem myopathy 2", "isLeaf": true, "isRoot": false, "parents": [ 9355, 19720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061201", "GARD:0016121", "MEDGEN:907426", "OMIM:616471", "Orphanet:536516", "UMLS:C4225313" ], "synonyms": [ "BTHLM2", "Bethlem myopathy 2", "Bethlem myopathy caused by mutation in COL12A1", "Bethlem myopathy type 2", "COL12A1 Bethlem myopathy", "EDS, myopathic type", "Ehlers-Danlos syndrome, myopathic type", "myopathic EDS", "myopathic Ehlers-Danlos syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0034022" }, { "id": 23633, "label": "Ehlers-Danlos syndrome, classic-like, 2", "isLeaf": true, "isRoot": false, "parents": [ 7611, 19720 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080732", "GARD:0017975", "MEDGEN:1632001", "OMIM:618000", "Orphanet:536532", "UMLS:C4693870" ], "synonyms": [ "EDSCLL2", "Ehlers-Danlos syndrome, classic-like, 2" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0054813" }, { "id": 24321, "label": "COL1A1-related Ehlers-Danlos syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027285" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome." }, "child_count": 1, "reference_id": "MONDO:0100599" }, { "id": 24328, "label": "COL1A2-related Ehlers-Danlos syndrome", "isLeaf": false, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027289" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Ehler-Danlos syndrome caused by any variant in the COL1A2 gene." }, "child_count": 3, "reference_id": "MONDO:0100606" }, { "id": 26020, "label": "Ehlers-Danlos syndrome, classic-like, 3", "isLeaf": true, "isRoot": false, "parents": [ 19720 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027110", "MEDGEN:1861383", "OMIM:620865", "UMLS:C5935631" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0971044" } ], "roots": [ { "id": 4370, "label": "syndromic disease" }, { "id": 5714, "label": "hereditary disease" }, { "id": 19507, "label": "developmental defect during embryogenesis" } ] }