{ "id": 24803, "label": "osteogenesis imperfecta and a reduction of bone mineral density.", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0800064", "properties": { "xrefs": [ "GARD:0026427", "HP:0004349" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density." }, "isLeaf": false, "isRoot": false, "child_count": 34, "parents": [ { "id": 18933, "label": "osteogenesis imperfecta", "isLeaf": false, "isRoot": false, "parents": [ 7171 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12347", "GARD:0001017", "ICD10CM:Q78.0", "ICD9:756.51", "MEDGEN:45246", "MESH:D010013", "MedDRA:10031243", "NANDO:1200873", "NANDO:2201011", "NCIT:C26837", "NORD:1535", "OMIMPS:166200", "Orphanet:666", "SCTID:78314001", "UMLS:C0029434", "icd11.foundation:1219932551" ], "synonyms": [ "Lobstein disease", "OI", "Osteopsathyrosis", "Porak and Durante disease", "brittle bone disease", "glass bone disease", "Vrolik disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." }, "child_count": 10, "reference_id": "MONDO:0019019" } ], "children": [ { "id": 6992, "label": "osteoporosis", "isLeaf": false, "isRoot": false, "parents": [ 3153, 24803, 25070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11476", "EFO:0003882", "ICD10CM:M81", "ICD9:733.0", "ICD9:733.00", "ICD9:733.09", "MEDGEN:14535", "MESH:D010024", "NCIT:C3298", "OMIM:166710", "SCTID:64859006", "UMLS:C0029456", "icd11.foundation:2113001430" ], "synonyms": [ "bone mineral density variation QTL, osteoporosis", "osteoporosis, postmenopausal", "osteoporosis, postmenopausal, susceptibility", "osteoporosis, susceptibility to", "fracture, hip, susceptibility to", "osteoporosis, involutional" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, "child_count": 21, "reference_id": "MONDO:0005298" }, { "id": 8609, "label": "Cole-Carpenter syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 16712, 24803 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024531", "MEDGEN:1374755", "OMIM:112240", "UMLS:C4317154" ], "synonyms": [ "Cole-Carpenter syndrome 1", "Cole-Carpenter syndrome caused by mutation in P4HB", "Cole-Carpenter syndrome type 1", "P4HB Cole-Carpenter syndrome", "CLCRP1", "COLE-CARPENTER syndrome 1", "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene." }, "child_count": 0, "reference_id": "MONDO:0007204" }, { "id": 8857, "label": "calvarial doughnut lesions-bone fragility syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080721", "GARD:0016739", "MEDGEN:377572", "MESH:C565089", "OMIM:126550", "Orphanet:85192", "SCTID:720598005", "UMLS:C1852022" ], "synonyms": [ "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia", "familial doughnut lesions of skull", "doughnut lesions of skull, familial" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria." }, "child_count": 0, "reference_id": "MONDO:0007470" }, { "id": 9457, "label": "osteogenesis imperfecta type 1", "isLeaf": false, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110334", "GARD:0008694", "MEDGEN:9799", "NCIT:C99003", "OMIM:166200", "Orphanet:216796", "SCTID:385482004", "UMLS:C0023931", "icd11.foundation:1897905410" ], "synonyms": [ "Adair-Dighton syndrome", "COL1A1-related osteogenesis imperfecta", "OI type 1", "OI1", "Van der Hoeve syndrome", "mild osteogenesis imperfecta", "non-deforming osteogenesis imperfecta", "osteogenesis imperfecta type 1", "osteogenesis imperfecta type I", "OI, type 1", "classic non-deforming OI with blue sclerae", "osteogenesis imperfecta tarda", "osteogenesis imperfecta with blue sclerae", "osteogenesis imperfecta, type 1", "osteogenesis imperfecta, type I" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures." }, "child_count": 1, "reference_id": "MONDO:0008146" }, { "id": 9458, "label": "osteogenesis imperfecta type 2", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110341", "GARD:0010142", "MEDGEN:75673", "MESH:C536042", "NCIT:C99001", "OMIM:166210", "Orphanet:216804", "SCTID:86470003", "UMLS:C0268358", "icd11.foundation:2024049157" ], "synonyms": [ "OI type 2", "OI2", "Vrolik type of osteogenesis imperfecta", "lethal osteogenesis imperfecta", "osteogenesis imperfecta type 2", "osteogenesis imperfecta type II", "OI, type 2", "Perinatally lethal OI", "osteogenesis imperfecta congenita", "osteogenesis imperfecta congenita perinatal lethal form", "osteogenesis imperfecta congenita, perinatal lethal form", "osteogenesis imperfecta, type 2", "osteogenesis imperfecta, type II" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." }, "child_count": 0, "reference_id": "MONDO:0008147" }, { "id": 9459, "label": "osteogenesis imperfecta type 4", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110340", "GARD:0008696", "MEDGEN:78665", "MESH:C536045", "NCIT:C98576", "OMIM:166220", "Orphanet:216820", "SCTID:205497004", "UMLS:C0268363", "icd11.foundation:829297901" ], "synonyms": [ "OI type 4", "OI4", "osteogenesis imperfecta type IV", "OI type IV", "OI, type 4", "common variable OI with normal sclerae", "osteogenesis imperfecta with normal sclerae", "osteogenesis imperfecta, type 4", "osteogenesis imperfecta, type IV" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)." }, "child_count": 0, "reference_id": "MONDO:0008148" }, { "id": 9462, "label": "gnathodiaphyseal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111533", "GARD:0008698", "MEDGEN:331575", "MESH:C536039", "OMIM:166260", "Orphanet:53697", "SCTID:715568002", "UMLS:C1833736", "icd11.foundation:1984860886" ], "synonyms": [ "GDD", "gnathodiaphyseal dysplasia", "GNATHODIAPHYSEAL dysplasia", "Gnathodiaphyseal sclerosis", "Levin syndrome 2", "osteogenesis imperfecta Levin type", "osteogenesis imperfecta with unusual skeletal lesions" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." }, "child_count": 0, "reference_id": "MONDO:0008151" }, { "id": 10512, "label": "geroderma osteodysplastica", "isLeaf": true, "isRoot": false, "parents": [ 23977, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111266", "GARD:0000413", "ICD9:759.89", "MEDGEN:98149", "MESH:C537799", "OMIM:231070", "Orphanet:2078", "SCTID:254116003", "UMLS:C0432255" ], "synonyms": [ "geroderma osteodysplastica", "GERODERMA OSTEODYSPLASTICUM", "GO", "Geroderma osteodysplasticum", "Gerodermia osteodysplastica", "Walt Disney dwarfism" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." }, "child_count": 0, "reference_id": "MONDO:0009271" }, { "id": 11013, "label": "osteogenesis imperfecta type 3", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110339", "GARD:0008695", "MEDGEN:78664", "MESH:C536044", "NCIT:C99002", "OMIM:259420", "Orphanet:216812", "SCTID:385483009", "UMLS:C0268362", "icd11.foundation:629873920" ], "synonyms": [ "OI type 3", "OI3", "osteogenesis imperfecta type 3", "osteogenesis imperfecta type III", "progressive deforming osteogenesis imperfecta", "severe osteogenesis imperfecta", "OI type III", "OI, type 3", "Oi3", "osteogenesis imperfecta, progressively deforming with normal sclerae", "osteogenesis imperfecta, progressively deforming, with normal sclerae", "osteogenesis imperfecta, type 3", "osteogenesis imperfecta, type III", "progressively deforming OI" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)." }, "child_count": 0, "reference_id": "MONDO:0009804" }, { "id": 11014, "label": "osteogenesis imperfecta type 9", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110349", "GARD:0010619", "MEDGEN:376720", "MESH:C564921", "OMIM:259440", "UMLS:C1850169" ], "synonyms": [ "OI9", "PPIB osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in PPIB", "osteogenesis imperfecta type 9", "OI 9", "OI type IX", "OI, type 9", "osteogenesis imperfecta sillence type II/III without abnormality of type I collagen", "osteogenesis imperfecta, type 9", "osteogenesis imperfecta, type IX" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene." }, "child_count": 0, "reference_id": "MONDO:0009805" }, { "id": 11027, "label": "osteoporosis-pseudoglioma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 19767, 24623, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060849", "GARD:0004160", "MEDGEN:98480", "MESH:C536063", "MedDRA:10052452", "NCIT:C130998", "OMIM:259770", "Orphanet:2788", "UMLS:C0432252" ], "synonyms": [ "OPPG", "osteoporosis-pseudoglioma syndrome", "Ops", "osteogenesis imperfecta ocular form", "osteogenesis imperfecta, ocular form", "osteoporosis pseudoglioma syndrome", "pseudoglioma with bone fragility" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." }, "child_count": 0, "reference_id": "MONDO:0009820" }, { "id": 11113, "label": "Wiedemann-Rautenstrauch syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 16198, 16199, 19731, 24671, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081333", "GARD:0000330", "ICD9:259.8", "MEDGEN:140806", "MESH:C536423", "NCIT:C121565", "NORD:1852", "OMIM:264090", "Orphanet:3455", "SCTID:238874008", "UMLS:C0406586" ], "synonyms": [ "Wiedemann Rautenstrauch Syndrome", "Wiedemann-Rautenstrauch syndrome", "neonatal progeroid syndrome", "Wiedemann Rautenstrauch syndrome", "progeroid syndrome neonatal", "progeroid syndrome, neonatal" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009910" }, { "id": 12700, "label": "spondylo-ocular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19767, 24803, 29253 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016740", "MEDGEN:900371", "OMIM:605822", "Orphanet:85194", "SCTID:715653007", "UMLS:C4225412", "icd11.foundation:1611450426" ], "synonyms": [ "SOS", "spondyloocular syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows." }, "child_count": 0, "reference_id": "MONDO:0011604" }, { "id": 13278, "label": "Bruck syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 17537, 24803 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010023", "MEDGEN:373129", "MESH:C537407", "OMIM:609220", "UMLS:C1836602" ], "synonyms": [ "Bruck syndrome 2", "Bruck syndrome caused by mutation in PLOD2", "Bruck syndrome type 2", "PLOD2 Bruck syndrome", "BRKS2", "osteogenesis imperfecta with congenital Joint contractures" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene." }, "child_count": 0, "reference_id": "MONDO:0012217" }, { "id": 13584, "label": "osteogenesis imperfecta type 7", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110337", "GARD:0008701", "MEDGEN:343981", "OMIM:610682", "SCTID:254111008", "UMLS:C1853162" ], "synonyms": [ "CRTAP osteogenesis imperfecta", "OI7", "osteogenesis imperfecta caused by mutation in CRTAP", "osteogenesis imperfecta type 7", "OI type 7", "OI type VII", "OI, type 7", "osteogenesis imperfecta, type 7", "osteogenesis imperfecta, type IIb", "osteogenesis imperfecta, type IIb, formerly", "osteogenesis imperfecta, type VII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." }, "child_count": 0, "reference_id": "MONDO:0012536" }, { "id": 13628, "label": "osteogenesis imperfecta type 8", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110336", "GARD:0010152", "MEDGEN:410075", "MESH:C536049", "OMIM:610915", "UMLS:C1970458" ], "synonyms": [ "OI8", "P3H1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in P3H1", "osteogenesis imperfecta type 8", "OI type VIII", "OI, type 8", "osteogenesis imperfecta, type 8", "osteogenesis imperfecta, type VIII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene." }, "child_count": 0, "reference_id": "MONDO:0012581" }, { "id": 13638, "label": "osteogenesis imperfecta type 5", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110344", "GARD:0008699", "MEDGEN:419332", "MESH:C567042", "OMIM:610967", "Orphanet:216828", "UMLS:C2931093", "icd11.foundation:1718903422" ], "synonyms": [ "IFITM5 osteogenesis imperfecta", "OI type 5", "OI5", "osteogenesis imperfecta caused by mutation in IFITM5", "OI type V", "OI with calcification in interosseous membranes", "OI, type 5", "osteogenesis imperfecta, type 5", "osteogenesis imperfecta, type V", "type V OI" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)." }, "child_count": 0, "reference_id": "MONDO:0012591" }, { "id": 13639, "label": "osteogenesis imperfecta type 11", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110351", "GARD:0012875", "MEDGEN:462568", "OMIM:610968", "UMLS:C3151218" ], "synonyms": [ "FKBP10 osteogenesis imperfecta", "OI11", "osteogenesis imperfecta caused by mutation in FKBP10", "OI type 11", "OI type XI", "OI, type 11", "osteogenesis imperfecta, type 11", "osteogenesis imperfecta, type XI" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene." }, "child_count": 0, "reference_id": "MONDO:0012592" }, { "id": 14089, "label": "autosomal recessive cutis laxa type 2B", "isLeaf": true, "isRoot": false, "parents": [ 19378, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070137", "GARD:0001641", "MEDGEN:414526", "MESH:C567855", "OMIM:612940", "Orphanet:357064", "UMLS:C2751987" ], "synonyms": [ "ARCL2, progeroid type", "ARCL2B", "PYCR1 autosomal recessive cutis laxa type 2", "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1", "autosomal recessive cutis laxa type 2, progeroid type", "autosomal recessive cutis laxa type 2B", "autosomal recessive cutis laxa type IIB", "cutis laxa with progeroid features", "cutis laxa, autosomal recessive type 2B", "cutis laxa, autosomal recessive, type 2B", "cutis laxa, autosomal recessive, type IIB" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported." }, "child_count": 0, "reference_id": "MONDO:0013051" }, { "id": 14490, "label": "osteogenesis imperfecta type 10", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110346", "GARD:0012874", "MEDGEN:462561", "OMIM:613848", "UMLS:C3151211" ], "synonyms": [ "OI10", "SERPINH1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SERPINH1", "OI type 10", "OI type X", "OI, type 10", "osteogenesis imperfecta, type 10", "osteogenesis imperfecta, type X" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene." }, "child_count": 0, "reference_id": "MONDO:0013459" }, { "id": 14491, "label": "osteogenesis imperfecta type 12", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110348", "GARD:0015722", "MEDGEN:462783", "OMIM:613849", "UMLS:C3151433" ], "synonyms": [ "OI12", "SP7 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SP7", "OI, type 12", "osteogenesis imperfecta, type 12", "osteogenesis imperfecta, type XII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." }, "child_count": 0, "reference_id": "MONDO:0013460" }, { "id": 14545, "label": "osteogenesis imperfecta type 6", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110350", "GARD:0008700", "MEDGEN:481194", "MESH:C536047", "OMIM:613982", "UMLS:C3279564" ], "synonyms": [ "OI6", "SERPINF1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SERPINF1", "OI type 6", "OI type VI", "SERPINFI- related osteogenesis imperfecta", "osteogenesis imperfecta type", "osteogenesis imperfecta, type 6", "osteogenesis imperfecta, type VI" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene." }, "child_count": 0, "reference_id": "MONDO:0013515" }, { "id": 14901, "label": "short stature-optic atrophy-Pelger-Huët anomaly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010945", "MEDGEN:762020", "OMIM:614800", "Orphanet:391677", "UMLS:C3541319" ], "synonyms": [ "short stature with optic atrophy and Pelger-Huët anomaly syndrome", "short stature, optic nerve atrophy, and Pelger-Huet anomaly", "short stature-optic atrophy-Pelger-Huët anomaly syndrome", "soph syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013889" }, { "id": 15039, "label": "osteogenesis imperfecta type 14", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110343", "GARD:0015901", "MEDGEN:767342", "OMIM:615066", "UMLS:C3554428" ], "synonyms": [ "OI14", "TMEM38B osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in TMEM38B", "OI, type 14", "osteogenesis imperfecta, type 14", "osteogenesis imperfecta, type XIV" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." }, "child_count": 0, "reference_id": "MONDO:0014029" }, { "id": 15095, "label": "osteogenesis imperfecta type 15", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110347", "GARD:0015919", "MEDGEN:815174", "OMIM:615220", "UMLS:C3808844" ], "synonyms": [ "OI15", "WNT1 osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in WNT1", "OI, type 15", "osteogenesis imperfecta, type 15", "osteogenesis imperfecta, type XV" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." }, "child_count": 0, "reference_id": "MONDO:0014086" }, { "id": 15543, "label": "osteogenesis imperfecta type 16", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110345", "GARD:0016072", "MEDGEN:864047", "OMIM:616229", "UMLS:C4015610" ], "synonyms": [ "OI16", "OI, type 16", "chromosome 11P11.2 deletion syndrome, 91.3-Kb", "osteogenesis imperfecta, type 16", "osteogenesis imperfecta, type XVI" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11." }, "child_count": 0, "reference_id": "MONDO:0014544" }, { "id": 15571, "label": "Cole-Carpenter syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 16712, 24803 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016077", "MEDGEN:905199", "OMIM:616294", "UMLS:C4225382" ], "synonyms": [ "Cole-Carpenter syndrome 2", "Cole-Carpenter syndrome caused by mutation in SEC24D", "Cole-Carpenter syndrome type 2", "SEC24D Cole-Carpenter syndrome", "CLCRP2", "COLE-CARPENTER syndrome 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene." }, "child_count": 0, "reference_id": "MONDO:0014573" }, { "id": 15573, "label": "Singleton-Merten syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 9724, 24803 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016078", "MEDGEN:907372", "OMIM:616298", "UMLS:C4225380" ], "synonyms": [ "DDX58 singleton-Merten dysplasia", "singleton-Merten dysplasia caused by mutation in DDX58", "singleton-Merten syndrome 2", "singleton-Merten syndrome type 2", "SGMRT2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene." }, "child_count": 0, "reference_id": "MONDO:0014575" }, { "id": 15667, "label": "osteogenesis imperfecta type 17", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110338", "GARD:0016126", "MEDGEN:903845", "OMIM:616507", "UMLS:C4225301" ], "synonyms": [ "OI17", "SPARC osteogenesis imperfecta", "osteogenesis imperfecta caused by mutation in SPARC", "osteogenesis imperfecta, type 17", "osteogenesis imperfecta, type XVII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." }, "child_count": 0, "reference_id": "MONDO:0014672" }, { "id": 18307, "label": "autosomal recessive cutis laxa type 2A", "isLeaf": false, "isRoot": false, "parents": [ 19378, 23867, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070134", "GARD:0001638", "MEDGEN:82795", "OMIM:219200", "Orphanet:357058", "UMLS:C0268355" ], "synonyms": [ "ARCL2A", "autosomal recessive cutis laxa type 2A", "cutis laxa with Joint laxity and retarded development", "cutis laxa with bone dystrophy", "cutis laxa with congenital disorder of glycosylation", "cutis laxa with growth and developmental delay", "cutis laxa, autosomal recessive type 2A", "cutis laxa, autosomal recessive, type 2A", "cutis laxa, autosomal recessive, type IIA", "cutis laxa, debre type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24." }, "child_count": 3, "reference_id": "MONDO:0018163" }, { "id": 20091, "label": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "isLeaf": true, "isRoot": false, "parents": [ 8908, 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080738", "GARD:0025209", "MEDGEN:1646889", "OMIM:130070", "UMLS:C4552003" ], "synonyms": [ "EDSSPD1", "Ehlers-Danlos syndrome with Short stature and Limb anomalies", "Ehlers-Danlos syndrome, progeroid type 1", "Ehlers-Danlos syndrome, progeroid type, 1", "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, 1, formerly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0020682" }, { "id": 21481, "label": "Singleton-Merten syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 9724, 24657, 24803 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025417", "MEDGEN:899946", "OMIM:182250", "UMLS:C4225427" ], "synonyms": [ "IFIH1 singleton-Merten dysplasia", "singleton-Merten dysplasia caused by mutation in IFIH1", "SGMRT1", "singleton-Merten syndrome 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene." }, "child_count": 0, "reference_id": "MONDO:0024535" }, { "id": 23332, "label": "osteogenesis imperfecta, type 18", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111848", "GARD:0025898", "MEDGEN:1635201", "OMIM:617952", "UMLS:C4693736" ], "synonyms": [ "OI18", "osteogenesis imperfecta, type XVIII" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})." }, "child_count": 0, "reference_id": "MONDO:0044329" }, { "id": 23555, "label": "osteogenesis imperfecta, type 19", "isLeaf": true, "isRoot": false, "parents": [ 24803 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111847", "GARD:0025944", "MEDGEN:1648353", "OMIM:301014", "UMLS:C4746956" ], "synonyms": [ "osteogenesis imperfecta, type XIX, X-linked recessive", "OI19", "osteogenesis imperfecta, type XIX" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0049223" } ], "roots": [ { "id": 18933, "label": "osteogenesis imperfecta" } ] }