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"count": 6723,
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"results": [
{
"identifier": "Xeroderma pigmentosum type F/Cockayne syndrome.",
"acronym": "XPF/CS.",
"accession": "DI-03805",
"synonyms": null,
"cross_references": "MeSH; D014983.",
"definition": "A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition. ",
"keywords": "KW-0172:Cockayne syndrome.; KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group G.",
"acronym": "XP-G.",
"accession": "DI-01161",
"synonyms": "Xeroderma pigmentosum VII.; XP7.; XP-G/CS.; XP group G.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. ",
"keywords": "KW-0172:Cockayne syndrome.; KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group F.",
"acronym": "XP-F.",
"accession": "DI-01160",
"synonyms": "Xeroderma pigmentosum VI.; XP6.; XP group F.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group E.",
"acronym": "XP-E.",
"accession": "DI-01159",
"synonyms": "Xeroderma pigmentosum V.; XP5.; XP group E.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group D.",
"acronym": "XP-D.",
"accession": "DI-01158",
"synonyms": "Xeroderma pigmentosum IV.; Xeroderma pigmentosum VIII.; XP4.; XP8.; XP-D/CS.; XPDC.; XP group D.; XP group H.; XPH.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. ",
"keywords": "KW-0172:Cockayne syndrome.; KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group C.",
"acronym": "XP-C.",
"accession": "DI-01157",
"synonyms": "Xeroderma pigmentosum III.; XP3.; XPC.; XPCC.; XP group C.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group B.",
"acronym": "XP-B.",
"accession": "DI-01156",
"synonyms": "Xeroderma pigmentosum group B with Cockayne syndrome.; Xeroderma pigmentosum II.; XP2.; XP-B/CS.; XP group B.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. ",
"keywords": "KW-0172:Cockayne syndrome.; KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xeroderma pigmentosum complementation group A.",
"acronym": "XP-A.",
"accession": "DI-01155",
"synonyms": "Xeroderma pigmentosum I.; XP1.; XP group A.; ",
"cross_references": "MeSH; D014983.",
"definition": "An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders. ",
"keywords": "KW-0857:Xeroderma pigmentosum.; "
},
{
"identifier": "Xanthinuria 2.",
"acronym": "XAN2.",
"accession": "DI-01154",
"synonyms": "Combined deficiency of xanthine dehydrogenase and aldehyde oxidase.; Xanthic urolithiasis.; ",
"cross_references": "MeSH; D052878.",
"definition": "A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. In addition, XAN2 patients cannot metabolize allopurinol into oxypurinol due to dual deficiency of xanthine dehydrogenase and aldehyde oxidase. ",
"keywords": null
},
{
"identifier": "Xanthinuria 1.",
"acronym": "XAN1.",
"accession": "DI-01153",
"synonyms": "Xanthic urolithiasis.; Xanthine dehydrogenase deficiency.; Xanthine oxidase deficiency.; XDH deficiency.; ",
"cross_references": "MeSH; D052878.",
"definition": "A disorder characterized by excretion of very large amounts of xanthine in the urine and a tendency to form xanthine stones. Uric acid is strikingly diminished in serum and urine. XAN1 is due to isolated xanthine dehydrogenase deficiency. Patients can metabolize allopurinol. ",
"keywords": null
},
{
"identifier": "Wrinkly skin syndrome.",
"acronym": "WSS.",
"accession": "DI-02425",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. ",
"keywords": null
},
{
"identifier": "Woolly hair-skin fragility syndrome.",
"acronym": "WHSF.",
"accession": "DI-06738",
"synonyms": null,
"cross_references": "MeSH; D012873.",
"definition": "An autosomal recessive genodermatosis characterized by woolly hair texture with slow hair growth, and skin fragility present at birth or appearing in the neonatal period. Skin fragility then resolves or only persists as minor skin peeling, predominantly affecting the palms and soles. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Woolly hair autosomal recessive 3.",
"acronym": "ARWH3.",
"accession": "DI-04638",
"synonyms": "Woolly hair, autosomal recessive 3, with hypotrichosis.; ",
"cross_references": "MeSH; D006201.",
"definition": "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Woolly hair autosomal recessive 2.",
"acronym": "ARWH2.",
"accession": "DI-02723",
"synonyms": "WH/HT.; Woolly hair autosomal recessive 2 with or without hypotrichosis.; ",
"cross_references": "MeSH; D006201.",
"definition": "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis. ",
"keywords": null
},
{
"identifier": "Woolly hair autosomal recessive 1 with or without hypotrichosis.",
"acronym": "ARWH1.",
"accession": "DI-01263",
"synonyms": null,
"cross_references": "MeSH; D006201.",
"definition": "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis. ",
"keywords": null
},
{
"identifier": "Woolly hair autosomal dominant.",
"acronym": "ADWH.",
"accession": "DI-02722",
"synonyms": null,
"cross_references": "MeSH; D006201.",
"definition": "A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. ",
"keywords": null
},
{
"identifier": "Woodhouse-Sakati syndrome.",
"acronym": "WDSKS.",
"accession": "DI-02424",
"synonyms": null,
"cross_references": "MedGen; C0342286.",
"definition": "A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Wolman disease.",
"acronym": "WOLD.",
"accession": "DI-01152",
"synonyms": "Cholesterol ester hydrolase deficiency, complete.; LAL deficiency, complete.; LIPA deficiency, complete.; Lysosomal acid lipase deficiency, acute infantile.; Lysosomal acid lipase deficiency, complete.; ",
"cross_references": "MeSH; D015223.",
"definition": "An autosomal recessive, fulminant form of lysosomal acid lipase deficiency manifesting in early infancy. It is characterized by massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. In addition, accumulation of cholesteryl esters in the zona reticularis of the adrenal gland leads to adrenal calcification and cortical insufficiency. Death occurs early in life from inanition. ",
"keywords": null
},
{
"identifier": "Wolfram syndrome 2.",
"acronym": "WFS2.",
"accession": "DI-02423",
"synonyms": null,
"cross_references": "MeSH; D014929.",
"definition": "A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Wolfram syndrome 1.",
"acronym": "WFS1.",
"accession": "DI-01151",
"synonyms": "Diabetes insipidus and mellitus with optic atrophy and deafness syndrome.; DIDMOAD.; WFS.; ",
"cross_references": "MeSH; D014929.",
"definition": "A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "
}
]
}