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"count": 6723,
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"results": [
{
"identifier": "Weiss-Kruszka syndrome.",
"acronym": "WSKA.",
"accession": "DI-05675",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging. ",
"keywords": null
},
{
"identifier": "Welander distal myopathy.",
"acronym": "WDM.",
"accession": "DI-03766",
"synonyms": "Late-onset autosomal dominant distal muscular dystrophy.; Swedish distal myopathy.; ",
"cross_references": "MeSH; D049310.",
"definition": "An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. ",
"keywords": null
},
{
"identifier": "Werner syndrome.",
"acronym": "WRN.",
"accession": "DI-01145",
"synonyms": null,
"cross_references": "MeSH; D014898.",
"definition": "A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction. ",
"keywords": null
},
{
"identifier": "WHIM syndrome 1.",
"acronym": "WHIMS1.",
"accession": "DI-02419",
"synonyms": "Warts, hypogammaglobulinemia, infections and myelokathexis syndrome 1.; WHIMS.; ",
"cross_references": "MeSH; D000081207.",
"definition": "An autosomal dominant immunologic disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. ",
"keywords": null
},
{
"identifier": "WHIM syndrome 2.",
"acronym": "WHIMS2.",
"accession": "DI-06160",
"synonyms": "Warts, hypogammaglobulinemia, infections, and myelokathexis 2.; ",
"cross_references": "MeSH; D000081207.",
"definition": "An autosomal recessive form of WHIM syndrome, a primary immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia caused by accumulation of mature and degenerating neutrophils in the bone marrow. Monocytopenia and lymphopenia, especially B lymphopenia, also commonly occur. There is significant phenotypic variation among patients, such that some individuals may have an incomplete form of the disorder in which one or more of the classic tetrad features are not present. ",
"keywords": null
},
{
"identifier": "White-Kernohan syndrome.",
"acronym": "WHIKERS.",
"accession": "DI-06165",
"synonyms": "Global developmental delay, hypotonia, and characteristic facial features.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have genitourinary and skeletal abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "White sponge nevus 1.",
"acronym": "WSN1.",
"accession": "DI-02420",
"synonyms": "Hereditary mucosal leukokeratosis.; White sponge nevus of Cannon.; ",
"cross_references": "MeSH; D053529.",
"definition": "A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. ",
"keywords": null
},
{
"identifier": "White sponge nevus 2.",
"acronym": "WSN2.",
"accession": "DI-04113",
"synonyms": null,
"cross_references": "MeSH; D053529.",
"definition": "A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. ",
"keywords": null
},
{
"identifier": "White-Sutton syndrome.",
"acronym": "WHSUS.",
"accession": "DI-04421",
"synonyms": "MRD37.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Wieacker-Wolff syndrome, female-restricted.",
"acronym": "WRWFFR.",
"accession": "DI-05800",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "An X-linked dominant neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero resulting in fetal akinesia, arthrogryposis multiplex congenita and diffuse contractures apparent at birth, global developmental delay with difficulty walking or inability to walk, hypotonia, variably impaired intellectual development, poor or absent speech and language, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Wieacker-Wolf syndrome.",
"acronym": "WRWF.",
"accession": "DI-03791",
"synonyms": "Contractures of feet, muscle atrophy, and oculomotor apraxia.; MCS.; MRXS4.; Oculomotor apraxia with congenital contractures and muscle atrophy.; Wieacker syndrome.; ",
"cross_references": "MeSH; D009886.",
"definition": "A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show intellectual disability. Carrier females may have mild features of the disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Wiedemann-Rautenstrauch syndrome.",
"acronym": "WDRTS.",
"accession": "DI-05494",
"synonyms": "Progeroid syndrome, neonatal.; ",
"cross_references": "MeSH; D011371.",
"definition": "An autosomal recessive, neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, hypotonia, variable mental impairment, and a progeroid appearance. Clinical features include apparent macrocephaly, sparse hair, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. Death usually occurs in early childhood but survival to third decade has been reported. ",
"keywords": null
},
{
"identifier": "Wiedemann-Steiner syndrome.",
"acronym": "WDSTS.",
"accession": "DI-03533",
"synonyms": "Hairy elbows short stature facial dysmorphism and developmental delay.; Hypertrichosis cubiti facial dysmorphism and developmental delay.; WSS.; ",
"cross_references": "MeSH; D006983.",
"definition": "A syndrome characterized by hairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature. Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures. ",
"keywords": null
},
{
"identifier": "Wilms tumor 1.",
"acronym": "WT1.",
"accession": "DI-02421",
"synonyms": null,
"cross_references": "MedGen; C0027708.",
"definition": "Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms. ",
"keywords": null
},
{
"identifier": "Wilms tumor 6.",
"acronym": "WT6.",
"accession": "DI-04647",
"synonyms": "Susceptibility to Wilms tumor 6.; Wilms tumor, susceptibility to.; Wilms tumor 6, susceptibility to.; ",
"cross_references": "MeSH; D009396.",
"definition": "A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. ",
"keywords": null
},
{
"identifier": "Wilson disease.",
"acronym": "WD.",
"accession": "DI-01146",
"synonyms": "Hepatolenticular degeneration.; ",
"cross_references": "MeSH; D006527.",
"definition": "An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. ",
"keywords": null
},
{
"identifier": "Winchester syndrome.",
"acronym": "WNCHRS.",
"accession": "DI-03898",
"synonyms": null,
"cross_references": "MeSH; D010024.",
"definition": "A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules. Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes. ",
"keywords": "KW-1285:Osteoporosis.; "
},
{
"identifier": "Wiskott-Aldrich syndrome.",
"acronym": "WAS.",
"accession": "DI-01147",
"synonyms": "Aldrich syndrome.; Eczema-thrombocytopenia-immunodeficiency syndrome.; IMD2.; Immunodeficiency 2.; WAS1.; Wiskott-Aldrich syndrome 1.; ",
"cross_references": "MeSH; D014923.",
"definition": "An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. ",
"keywords": null
},
{
"identifier": "Wiskott-Aldrich syndrome 2.",
"acronym": "WAS2.",
"accession": "DI-03385",
"synonyms": "WIPF1 deficiency.; ",
"cross_references": "MeSH; D014923.",
"definition": "An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function. ",
"keywords": null
},
{
"identifier": "Witteveen-Kolk syndrome.",
"acronym": "WITKOS.",
"accession": "DI-05538",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by global developmental delay, mild to severe intellectual disability, and facial dysmorphism. Additional features include short stature, microcephaly, joint hypermotility, and small hands and feet with digital abnormalities. Brain imaging shows dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
}
]
}