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{
"identifier": "Anterior segment anomalies with or without cataract.",
"acronym": "ASA.",
"accession": "DI-03442",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial restrictive 3.",
"acronym": "RCM3.",
"accession": "DI-00247",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Brugada syndrome 5.",
"acronym": "BRGDA5.",
"accession": "DI-02502",
"synonyms": null,
"cross_references": "MeSH; D053840.",
"definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ",
"keywords": "KW-0992:Brugada syndrome.; "
},
{
"identifier": "Cataracts, spastic paraparesis, and speech delay.",
"acronym": "CSPSD.",
"accession": "DI-06115",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Bone marrow failure and diabetes mellitus syndrome.",
"acronym": "BMFDMS.",
"accession": "DI-06507",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"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": "Bone marrow failure syndrome 2.",
"acronym": "BMFS2.",
"accession": "DI-04043",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 3.",
"acronym": "BMFS3.",
"accession": "DI-04752",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 4.",
"acronym": "BMFS4.",
"accession": "DI-05333",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 5.",
"acronym": "BMFS5.",
"accession": "DI-05371",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 6.",
"acronym": "BMFS6.",
"accession": "DI-05796",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS6 is an autosomal dominant form characterized by intermittent neutropenia, lymphopenia, or anemia associated with hypocellular bone marrow, and increased susceptibility to cancer. ",
"keywords": null
},
{
"identifier": "Boomerang dysplasia.",
"acronym": "BOOMD.",
"accession": "DI-01289",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Bosch-Boonstra-Schaaf optic atrophy syndrome.",
"acronym": "BBSOAS.",
"accession": "DI-04111",
"synonyms": null,
"cross_references": "MeSH; D029241.",
"definition": "An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. ",
"keywords": null
},
{
"identifier": "Bosley-Salih-Alorainy syndrome.",
"acronym": "BSAS.",
"accession": "DI-01290",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 5.",
"acronym": "ASGD5.",
"accession": "DI-02157",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial restrictive 5.",
"acronym": "RCM5.",
"accession": "DI-04772",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Anterior segment dysgenesis 6.",
"acronym": "ASGD6.",
"accession": "DI-04923",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 21.",
"acronym": "COXPD21.",
"accession": "DI-04173",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Aortic aneurysm, familial thoracic 8.",
"acronym": "AAT8.",
"accession": "DI-03894",
"synonyms": null,
"cross_references": "MeSH; D017545.",
"definition": "A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Creutzfeldt-Jakob disease.",
"acronym": "CJD.",
"accession": "DI-01448",
"synonyms": null,
"cross_references": "MedGen; C1969957.",
"definition": "Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid- life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness. ",
"keywords": null
}
]
}