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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6280",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6240",
"results": [
{
"identifier": "Spondyloepimetaphyseal dysplasia, Krakow type.",
"acronym": "SEMDK.",
"accession": "DI-05362",
"synonyms": "Immunoosseous dysplasia, Krakow type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Missouri type.",
"acronym": "SEMDM.",
"accession": "DI-02332",
"synonyms": "SEMD-MO.; Spondyloepimetaphyseal dysplasia type 2.; Spondyloepimetaphyseal dysplasia type Missouri.; Spondylometaepiphyseal dysplasia type Missouri.; ",
"cross_references": "MeSH; D001848.",
"definition": "A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Shohat type.",
"acronym": "SEMDSH.",
"accession": "DI-05181",
"synonyms": "SEMD, Shohat type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal dysplasia that affects cartilage development. It is characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distension with hepatosplenomegaly. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, short limb-hand type.",
"acronym": "SEMD-SL.",
"accession": "DI-02538",
"synonyms": "SMED short limb-abnormal calcification type.; SMED short limb-hand type.; SMED-SL.; SMED-SL/AC.; SMED type II.; Spondylometaepiphyseal dysplasia short limb-abnormal calcification type.; Spondylometaepiphyseal dysplasia short limb-hand type.; ",
"cross_references": "MeSH; D001848.",
"definition": "A bone disease characterized by short-limbed dwarfism, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and premature calcifications. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, sponastrime type.",
"acronym": "SEMDSP.",
"accession": "DI-05624",
"synonyms": "Short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation.; Sponastrime dysplasia.; Spondylar and nasal alterations with striated metaphyses.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive bone disease characterized by spine abnormalities, mid-face hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Disease severity and clinical manifestations are variable. Some patients have intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Strudwick type.",
"acronym": "SEMDSTWK.",
"accession": "DI-02343",
"synonyms": "Dappled metaphysis syndrome.; SEMD, Strudwick type.; SEMDC.; SMD.; SMED, Strudwick type.; SMED type 1.; SMED type I.; Spondyloepiphyseal dysplasia congenita with dappled metaphyses.; Spondylometaepiphyseal dysplasia congenita, Strudwick type.; Spondylometaphyseal dysplasia.; Strudwick syndrome.; ",
"cross_references": "MeSH; D001848.",
"definition": "A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures.",
"acronym": "SEMDJL1.",
"accession": "DI-03845",
"synonyms": "SEMDJL-Beighton type.; Spondyloepimetaphyseal dysplasia with joint laxity Beighton type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia with joint laxity, 2.",
"acronym": "SEMDJL2.",
"accession": "DI-03363",
"synonyms": "Lepto-SEMDJL.; Spondyloepimetaphyseal dysplasia with joint laxity Hall type.; Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type.; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia with joint laxity, 3.",
"acronym": "SEMDJL3.",
"accession": "DI-05541",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive bone disease characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, X-linked.",
"acronym": "SEMDX.",
"accession": "DI-04786",
"synonyms": "SEMD, X-linked.; ",
"cross_references": "MeSH; D010009.",
"definition": "An X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy.",
"acronym": "SEMDHL.",
"accession": "DI-05710",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepiphyseal dysplasia congenital type.",
"acronym": "SEDC.",
"accession": "DI-02333",
"synonyms": null,
"cross_references": "MedGen; C2745959.",
"definition": "Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia, Kondo-Fu type.",
"acronym": "SEDKF.",
"accession": "DI-05540",
"synonyms": "SED with elevated blood lysosomal enzymes.; ",
"cross_references": "MeSH; D010009.",
"definition": "A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepiphyseal dysplasia Maroteaux type.",
"acronym": "SEDM.",
"accession": "DI-02969",
"synonyms": "Pseudo-Morquio syndrome type 2.; SED Maroteaux type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis.",
"acronym": "SHILCA.",
"accession": "DI-06074",
"synonyms": "Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis.; ",
"cross_references": "MeSH; D057130.",
"definition": "An autosomal recessive disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature due to spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain imaging shows abnormalities including delayed myelination, leukoencephalopathy, and cerebellar hypoplasia. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0901:Leber congenital amaurosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spondyloepiphyseal dysplasia, Stanescu type.",
"acronym": "SEDSTN.",
"accession": "DI-04552",
"synonyms": "SED, Stanescu type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal dominant spondyloepiphyseal dysplasia characterized by glycoproteins accumulation in chondrocytes. Clinical features include progressive joint contractures, premature degenerative joint disease particularly in the knee, hip and finger joints, and osseous distention of the metaphyseal ends of the phalanges causing swolling of interphalangeal joints of the hands. Radiological features include generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia tarda.",
"acronym": "SEDT.",
"accession": "DI-02335",
"synonyms": null,
"cross_references": "MedGen; C3541456.",
"definition": "X-linked recessive disorder of endochondral bone formation. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia type Kimberley.",
"acronym": "SEDK.",
"accession": "DI-02336",
"synonyms": null,
"cross_references": "MedGen; C1842149.",
"definition": "Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia with congenital joint dislocations.",
"acronym": "SEDCJD.",
"accession": "DI-01753",
"synonyms": "HSD.; Humerospinal dysostosis.; SED Omani type.; Spondyloepiphyseal dysplasia Omani type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. ",
"keywords": null
},
{
"identifier": "Spondylo-megaepiphyseal-metaphyseal dysplasia.",
"acronym": "SMMD.",
"accession": "DI-02858",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}