C0004779 - A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma. 1/10
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Terms, descriptions
CUI    C0004779
RussianMedical Subject Headings Russian D001478 L3340131preferred S3867613 Y БАЗАЛЬНО-КЛЕТОЧНОГО НЕВУСА СИНДРОМ
RussianMedical Subject Headings Russian D001478 L0890878no S1094695 Y BAZAL'NO-KLETOCHNOGO NEVUSA SINDROM
RussianMedical Subject Headings Russian D001478 L1522219no S1818128 Y GORLINA SINDROM
RussianMedical Subject Headings Russian D001478 L1533121no S1829030 Y NEVOIDNOI BAZAL'NO-KLETOCHNOI KARTSINOMY SINDROM
RussianMedical Subject Headings Russian D001478 L1533186no S1829095 Y NEVUSA SINDROM BAZAL'NO-KLETOCHNOGO
RussianMDRRUS 10078878 L15751982no S19079983 Y Синдром невоидного базально-клеточного рака
RussianMDRRUS 10062804 L15773910no S19079740 N Синдром базально-клеточного невуса
RussianMDRRUS 10062804 L15773910no S19079740 Y Синдром базально-клеточного невуса
RussianMDRRUS 10078877 L15784951no S19079330 Y Синдром Горлина-Гольца
RussianMDRRUS 10004151 L15795846no S19079741 Y Синдром базальноклеточного невуса
RussianMedical Subject Headings Russian D001478 L3346237no S3873721 Y ГОРЛИНА СИНДРОМ
RussianMedical Subject Headings Russian D001478 L3359509no S3886995 Y НЕВОИДНОЙ БАЗАЛЬНО-КЛЕТОЧНОЙ КАРЦИНОМЫ СИНДРОМ
RussianMedical Subject Headings Russian D001478 L3359589no S3887065 Y НЕВУСА СИНДРОМ БАЗАЛЬНО-КЛЕТОЧНОГО
Medical Subject Headings A0029258 AT38140499 Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.
Medical Subject Headings Czech A13065988 AT211613297 Dědičné či novou mutací vzniklé onemocnění charakterizované mnohočetným výskytem bazaliomů na kůži, odontogenními keratocystami čelistí, skeletálními anomáliemi (např. na hrudníku, páteři, prstech) a faciálním dysmorfizmem s makrocefalií.
(JABL) Congenital Mental Retardation Syndromes A1703007 AT14331942 A syndrome of nevoid basal cell carcinomas, odontogenic keratocysts of the jaws, skeletal anomalies, and intracranial calcifications with more than 100 different signs and symptoms occurring in variable clusters. Basal-cell carcinoma, although the primary characteristic of this syndrome, may not be present in all affected adults. The syndrome occurs in about 1 in 200 patients with basal-cell carcinoma. Mental retardation complicates about 5%. Basal-cell carcinoma associated with coarse sparse hair and milia is referred to as the Bazex syndrome.
NCI Thesaurus A7572481 AT198004592 An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.
NCI NCI Dictionary of Cancer Terms A7572481 AT198103133 A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma.