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"count": 6723,
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"results": [
{
"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
},
{
"identifier": "Crigler-Najjar syndrome 1.",
"acronym": "CN1.",
"accession": "DI-01449",
"synonyms": "CN-I.; Crigler-Najjar syndrome type I.; ",
"cross_references": "MedGen; C0010324.",
"definition": "Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Crigler-Najjar syndrome 2.",
"acronym": "CN2.",
"accession": "DI-01450",
"synonyms": "CN-II.; Crigler-Najjar syndrome type II.; ",
"cross_references": "MedGen; C2931132.",
"definition": "Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Crisponi/Cold-induced sweating syndrome 1.",
"acronym": "CISS1.",
"accession": "DI-01356",
"synonyms": "Crisponi syndrome.; Muscle contractions tetanoform with characteristic face camptodactyly hyperthermia and sudden death.; Sohar-Crisponi syndrome.; ",
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. ",
"keywords": null
},
{
"identifier": "Crisponi/Cold-induced sweating syndrome 2.",
"acronym": "CISS2.",
"accession": "DI-01357",
"synonyms": null,
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. ",
"keywords": null
},
{
"identifier": "Crouzon syndrome.",
"acronym": "CS.",
"accession": "DI-00383",
"synonyms": "CFD1.; Craniofacial dysostosis type I.; Crouzon craniofacial dysostosis.; ",
"cross_references": "MeSH; D003394.",
"definition": "An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Crouzon syndrome with acanthosis nigricans.",
"acronym": "CAN.",
"accession": "DI-01453",
"synonyms": null,
"cross_references": "MedGen; C2677099.",
"definition": "Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala- 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. ",
"keywords": null
},
{
"identifier": "Cryohydrocytosis.",
"acronym": "CHC.",
"accession": "DI-04609",
"synonyms": "Stomatocytosis, cold-sensitive.; ",
"cross_references": "MeSH; D000745.",
"definition": "An autosomal dominant disorder of red cell membrane permeability characterized by cold-induced changes in cell volume, resulting in cold-sensitive stomatocytosis, and increased erythrocyte osmotic fragility and autohemolysis at 4 degrees Celsius. Patients present with mild to moderate hemolytic anemia, splenomegaly, fatigue, and pseudohyperkalemia due to a potassium leak from the erythrocytes. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Cryptophthalmos, unilateral or bilateral, isolated.",
"acronym": "CRYPTOP.",
"accession": "DI-05544",
"synonyms": "Ankyloblepharon, simple.; cryptophthalmos with microphthalmia and Peters anomaly.; ",
"cross_references": "MeSH; D005141.",
"definition": "An autosomal dominant, rare condition characterized by congenital eyelid malformation with an underlying malformed eye. It can be bilateral or unilateral and is classified into complete (typical), incomplete (atypical) and abortive (congenital symblepharon) forms. The skin of patients with complete cryptophthalmos extends uninterrupted from the forehead to the cheek, whereas incomplete cryptophthalmos exists when there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form. ",
"keywords": null
},
{
"identifier": "Cryptorchidism.",
"acronym": "CRYPTO.",
"accession": "DI-01455",
"synonyms": "Impaired testicular descent.; ",
"cross_references": "MedGen; C0010417.",
"definition": "One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer. ",
"keywords": null
},
{
"identifier": "C syndrome.",
"acronym": "CSYN.",
"accession": "DI-01303",
"synonyms": "Opitz trigonocephaly syndrome.; Trigonocephaly syndrome.; ",
"cross_references": "MeSH; D003398.",
"definition": "A syndrome characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Culler-Jones syndrome.",
"acronym": "CJS.",
"accession": "DI-04127",
"synonyms": "Pallister-Hall syndrome 2.; PHS2.; ",
"cross_references": "MeSH; D054975.",
"definition": "An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. ",
"keywords": null
},
{
"identifier": "Currarino syndrome.",
"acronym": "CURRAS.",
"accession": "DI-01458",
"synonyms": null,
"cross_references": "MedGen; C1867775.",
"definition": "The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait. ",
"keywords": null
},
{
"identifier": "Curry-Jones syndrome.",
"acronym": "CRJS.",
"accession": "DI-04790",
"synonyms": "Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development.; Curry Jones syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. ",
"keywords": null
},
{
"identifier": "Cutaneous telangiectasia and cancer syndrome, familial.",
"acronym": "FCTCS.",
"accession": "DI-03427",
"synonyms": null,
"cross_references": "MeSH; D013684.",
"definition": "A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal dominant, 1.",
"acronym": "ADCL1.",
"accession": "DI-01204",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal dominant, 2.",
"acronym": "ADCL2.",
"accession": "DI-03317",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal dominant, 3.",
"acronym": "ADCL3.",
"accession": "DI-04558",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 1A.",
"acronym": "ARCL1A.",
"accession": "DI-01236",
"synonyms": "CL type I.; Cutis laxa autosomal recessive type I.; Cutis laxa autosomal recessive type IA.; ",
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 1B.",
"acronym": "ARCL1B.",
"accession": "DI-03318",
"synonyms": "Cutis laxa autosomal recessive type IB.; ",
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. ",
"keywords": null
}
]
}