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"count": 6723,
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"results": [
{
"identifier": "Corticosteroid-binding globulin deficiency.",
"acronym": "CBG deficiency.",
"accession": "DI-01433",
"synonyms": null,
"cross_references": "MedGen; C1969107.",
"definition": "Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. ",
"keywords": null
},
{
"identifier": "Corticosterone methyloxidase 1 deficiency.",
"acronym": "CMO-1 deficiency.",
"accession": "DI-01434",
"synonyms": "Aldosterone deficiency due to defect in 18-hydroxylase.; Aldosterone deficiency I.; ",
"cross_references": "MedGen; CN074214.",
"definition": "Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal. ",
"keywords": null
},
{
"identifier": "Corticosterone methyloxidase 2 deficiency.",
"acronym": "CMO-2 deficiency.",
"accession": "DI-01435",
"synonyms": null,
"cross_references": "MedGen; CN074247.",
"definition": "Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum. ",
"keywords": null
},
{
"identifier": "Cortisone reductase deficiency 1.",
"acronym": "CORTRD1.",
"accession": "DI-01436",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic-pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo-amenorrhea, and infertility in females and premature pseudopuberty in males. ",
"keywords": null
},
{
"identifier": "Cortisone reductase deficiency 2.",
"acronym": "CORTRD2.",
"accession": "DI-05184",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males. ",
"keywords": null
},
{
"identifier": "Costello syndrome.",
"acronym": "CSTLO.",
"accession": "DI-01437",
"synonyms": "Faciocutaneoskeletal syndrome.; FCSS.; FCS syndrome.; ",
"cross_references": "MeSH; D056685.",
"definition": "A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities. ",
"keywords": null
},
{
"identifier": "Coumarin resistance.",
"acronym": "CMRES.",
"accession": "DI-01438",
"synonyms": "Poor metabolism of coumarin.; Warfarin resistance.; ",
"cross_references": "MeSH; D004351.",
"definition": "A condition characterized by partial or complete resistance to warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. ",
"keywords": null
},
{
"identifier": "Cousin syndrome.",
"acronym": "COUSS.",
"accession": "DI-01439",
"synonyms": "Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature.; ",
"cross_references": "MedGen; C1850040.",
"definition": "Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 1.",
"acronym": "CWS1.",
"accession": "DI-01440",
"synonyms": "Bannayan-Riley-Ruvalcaba syndrome.; Bannayan-Ruvalcaba-Riley syndrome.; Bannayan-Zonana syndrome.; BZS.; CD.; Cowden disease.; CS.; Macrocephaly multiple lipomas and hemangiomata.; Macrocephaly pseudopapilledema and multiple hemangiomata.; MHAM.; Multiple hamartoma syndrome.; PHTS.; PTEN hamartoma tumor syndrome.; Riley-Smith syndrome.; RMSS.; Ruvalcaba-Myhre-Smith syndrome.; ",
"cross_references": "MeSH; D006223.",
"definition": "An autosomal dominant hamartomatous polyposis syndrome with age- related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 4.",
"acronym": "CWS4.",
"accession": "DI-03695",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 5.",
"acronym": "CWS5.",
"accession": "DI-03696",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 6.",
"acronym": "CWS6.",
"accession": "DI-03697",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 7.",
"acronym": "CWS7.",
"accession": "DI-04679",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay.",
"acronym": "CCDDRD.",
"accession": "DI-06742",
"synonyms": null,
"cross_references": "MeSH; D000093922.",
"definition": "An autosomal recessive form of congenital cranial dysinnervation disorder. This term defines a heterogeneous group of neurodevelopmental disorders caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDDRD is characterized by developmental delay, corneal opacity, absent corneal reflex, expressionless face with asymmetry, sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral agenesis or severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Additional features include hypotonia, impaired intellectual development, and behavioral abnormalities. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Craniodiaphyseal dysplasia autosomal dominant.",
"acronym": "CDD.",
"accession": "DI-03135",
"synonyms": "Schaefer Stein Oshman syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients. ",
"keywords": null
},
{
"identifier": "Cranioectodermal dysplasia 1.",
"acronym": "CED1.",
"accession": "DI-02715",
"synonyms": "Cranio-ectodermal dysplasia.; Levin syndrome I.; Sensenbrenner syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Cranioectodermal dysplasia 2.",
"acronym": "CED2.",
"accession": "DI-02916",
"synonyms": "Sensenbrenner syndrome 2.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Cranioectodermal dysplasia 3.",
"acronym": "CED3.",
"accession": "DI-03183",
"synonyms": "Sensenbrenner syndrome 3.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Cranioectodermal dysplasia 4.",
"acronym": "CED4.",
"accession": "DI-03327",
"synonyms": "Sensenbrenner syndrome 4.; ",
"cross_references": "MeSH; D004476.",
"definition": "A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Craniofacial anomalies and anterior segment dysgenesis syndrome.",
"acronym": "CAASDS.",
"accession": "DI-03261",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. ",
"keywords": null
}
]
}