| D011110 |
Polymorphism, Genetic |
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. |
Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000096927 |
AIRE Protein |
A transcriptional regulator primarily expressed in medullary thymic epithelial cells. It plays an important role in immunity by regulating the expression of a wide array of SELF-ANTIGENS and negative selection of autoreactive T-cells in the thymus. Deficiency in this protein induces a rare autosomal-recessive disease called AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY. |
APECED Protein,Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Protein,Autoimmune Regulator Protein,Protein, AIRE,Protein, APECED,Protein, Autoimmune Regulator,Regulator Protein, Autoimmune |
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| D000224 |
Addison Disease |
An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES. |
Addison's Disease,Primary Adrenal Insufficiency,Primary Adrenocortical Insufficiency,Primary Hypoadrenalism,Addisons Disease,Adrenal Insufficiency, Primary,Adrenocortical Insufficiencies, Primary,Adrenocortical Insufficiency, Primary,Disease, Addison,Hypoadrenalism, Primary,Hypoadrenalisms, Primary,Insufficiencies, Primary Adrenocortical,Insufficiency, Primary Adrenocortical,Primary Adrenocortical Insufficiencies |
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| D013577 |
Syndrome |
A characteristic symptom complex. |
Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes |
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| D014157 |
Transcription Factors |
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. |
Transcription Factor,Factor, Transcription,Factors, Transcription |
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| D014644 |
Genetic Variation |
Genotypic differences observed among individuals in a population. |
Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic |
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| D016884 |
Polyendocrinopathies, Autoimmune |
Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present. |
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy,Autoimmune Syndrome Type I, Polyglandular,Autoimmune Syndrome Type II, Polyglandular,Polyglandular Type I Autoimmune Syndrome,Polyglandular Type II Autoimmune Syndrome,Schmidt's Syndrome,AIRE Deficiency,APECED,APS Type 1,Autoimmune Polyendocrine Syndrome, Type 2,Autoimmune Polyendocrine Syndrome, Type II,Autoimmune Polyendocrinopathy Syndrome Type 1,Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy,Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy,Autoimmune Polyglandular Syndrome Type I,Autoimmune Polyglandular Syndrome Type II,Autoimmune Polyglandular Syndrome Type III,Autoimmune Polyglandular Syndrome, Type 1,Autoimmune Polyglandular Syndrome, Type 3,Autoimmune Polyglandular Syndrome, Type I,Autoimmune Syndrome Type III, Polyglandular,Diabetes Mellitus, Addison Disease, Myxedema,Diabetes Mellitus, Addison's Disease, Myxedema,Multiple Endocrine Deficiency Syndrome, Type 2,Polyendocrine Autoimmune Syndrome, Type II,Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune,Polyglandular Autoimmune Syndrome, Type 1,Polyglandular Autoimmune Syndrome, Type 2,Polyglandular Autoimmune Syndrome, Type 3,Polyglandular Autoimmune Syndrome, Type I,Polyglandular Deficiency Syndrome, Type 2,Polyglandular Type III Autoimmune Syndrome,Schmidt Syndrome,AIRE Deficiencies,Autoimmune Polyendocrinopathy,Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy,Deficiency, AIRE,Polyendocrinopathy Candidiasis Ectodermal Dystrophy, Autoimmune,Polyendocrinopathy, Autoimmune,Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune,Syndrome, Schmidt,Syndrome, Schmidt's |
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| D017353 |
Gene Deletion |
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. |
Deletion, Gene,Deletions, Gene,Gene Deletions |
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