Somatoform Disorders. Medically Unexplained Syndrome . Medically Unexplained Syndromes . Disorder, Somatoform . Disorders, Somatization . Disorders, Somatoform . Somatization Disorders . Somatoform Disorder . Syndrome, Briquet . Syndrome, Medically Unexplained . Syndromes, Medically Unexplained . Unexplained Syndrome, Medically . Unexplained Syndromes, Medically . Diseases of the Spirit . Spiritual Disease . Spiritual Diseases . Briquet Syndrome . Pain Disorder . Somatization Disorder . Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by another medical condition, by the direct effects of a substance, or by another mental disorder. The MEDICALLY UNEXPLAINED SYMPTOMS must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to FACTITIOUS DISORDERS and MALINGERING, the physical symptoms are not under voluntary control. (APA, DSM-V) . 1.00
Branchio-Oto-Renal Syndrome. BOF Syndrome . Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging . Branchio-Otorenal Syndrome . Branchiooculofacial Syndrome . Branchiootorenal Dysplasia . Branchiootorenal Syndrome 1 . Branchiootorenal Syndrome 2 . Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome . Lee Root Fenske Syndrome . Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome . Melnick-Fraser Syndrome . Branchio Oculo Facial Syndrome . Branchio Oto Renal Syndrome . Dysplasia, Branchiootorenal . Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome . Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome . Melnick Fraser Syndrome . Syndrome, BOF . Syndrome, BOR . Syndrome, Branchio-Oculo-Facial . Syndrome, Branchio-Oto-Renal . Syndrome, Branchiooculofacial . Syndrome, Melnick-Fraser . Branchio-Oculo-Facial Syndrome . Branchio-Otorenal Dysplasia . BOR Syndrome . An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) . 0.52
Middle Lobe Syndrome. Brock Syndrome . Brocks Syndrome . Syndrome, Brock's . Syndromes, Middle Lobe . Brock's Syndrome . Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) . 0.50
Bloom Syndrome. Bloom's Syndrome . Congenital Telangiectatic Erythema . Bloom Torre Machacek Syndrome . Syndrome, Bloom . Syndrome, Bloom-Torre-Machacek . Bloom-Torre-Machacek Syndrome . An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. . 0.49
Barth Syndrome. 3-Methylglutaconic Aciduria, Type II . 3-Methylglutaconicaciduria Type 2 . 3-Methylglutaconicaciduria Type II . Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria . MGA Type 2 . MGA Type II . 3 Methylglutaconic Aciduria, Type II . 3 Methylglutaconicaciduria Type 2 . 3-Methylglutaconicaciduria Type 2s . 3-Methylglutaconicaciduria Type IIs . MGA Type 2s . MGA Type IIs . Syndrome, Barth . Type 2, 3-Methylglutaconicaciduria . Type 2, MGA . Type 2s, MGA . Type II, MGA . Type IIs, MGA . MGA type II . 3-methylglutaconicaciduria type 2 . 3-methylglutaconicaciduria type II . Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist. . 0.49
Trichothiodystrophy Syndromes. Amish Brittle Hair Brain Syndrome . Amish Brittle Hair Syndrome . BIDS Syndrome . Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome . Hair-Brain Syndrome . IBIDS Syndrome . Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation . Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature . PIBIDS Syndrome . Photosensitive Trichothiodystrophy . Tay Syndrome . Trichothiodystrophy . Trichothiodystrophy with Congenital Ichtyosis . Trichothiodystrophy, Nonphotosensitive 1 . Trichothiodystrophy, Photosensitive . BIDS Syndromes . Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome . Hair Brain Syndrome . Hair-Brain Syndromes . IBIDS Syndromes . PIBIDS Syndromes . Photosensitive Trichothiodystrophies . Trichothiodystrophies . Trichothiodystrophies, Nonphotosensitive 1 . Trichothiodystrophies, Photosensitive . Trichothiodystrophy Syndrome . Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. . 0.48
