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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Wolfram Syndrome
Eye Diseases > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Wolfram Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Wolfram Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Wolfram Syndrome
... > Nervous System Diseases > Cranial Nerve Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Wolfram Syndrome
Eye Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Wolfram Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Deaf-Blind Disorders > Wolfram Syndrome
... > Otorhinolaryngologic Diseases > Ear Diseases > Hearing Disorders > Hearing Loss > Deafness > Deaf-Blind Disorders > Wolfram Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Sensation Disorders > Hearing Disorders > Hearing Loss > Deafness > Deaf-Blind Disorders > Wolfram Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Sensation Disorders > Hearing Disorders > Hearing Loss > Deafness > Deaf-Blind Disorders > Wolfram Syndrome
Eye Diseases > Vision Disorders > Blindness > Deaf-Blind Disorders > Wolfram Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Sensation Disorders > Vision Disorders > Blindness > Deaf-Blind Disorders > Wolfram Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Sensation Disorders > Vision Disorders > Blindness > Deaf-Blind Disorders > Wolfram Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urologic Diseases > Kidney Diseases > Diabetes Insipidus > Wolfram Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urologic Diseases > Kidney Diseases > Diabetes Insipidus > Wolfram Syndrome
Endocrine System Diseases > Pituitary Diseases > Diabetes Insipidus > Wolfram Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Hypothalamic Diseases > Pituitary Diseases > Diabetes Insipidus > Wolfram Syndrome
Immune System Diseases > Autoimmune Diseases > Diabetes Mellitus, Type 1 > Wolfram Syndrome
Endocrine System Diseases > Diabetes Mellitus > Diabetes Mellitus, Type 1 > Wolfram Syndrome
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Glucose Metabolism Disorders > Diabetes Mellitus > Diabetes Mellitus, Type 1 > Wolfram Syndrome

Término preferido

Wolfram Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

Concepto genérico

Etiquetas alternativas

  • Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness
  • DIDMOAD
  • DIDMOAD Syndrome
  • DIDMOADUD

En otras lenguas

  • Syndrome de Wolfram

    francés

  • Diabète insipide-diabète sucré-atrophie optique-surdité
  • DIDMOAD
  • Syndrome de Wolfram de type 1

URI

http://data.loterre.fr/ark:/67375/JVR-KJ1V2CQT-J

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RDF/XML TURTLE JSON-LD Creado 11/3/85, última modificación 30/6/21