arginine vasopressin receptor 2
OMIM: 300538, Gene2Phenotype
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AVPR2 in Multi-organ autoimmune diabetes
Level 3: Disorders of unusual phenotypes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AVPR2 in Familial Meniere Disease
Level 3: Other hearing and ear disorders
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review | Not set |
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AVPR2 in Monogenic nephrogenic diabetes insipidus
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AVPR2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology
Level 3: Disorders of unusual phenotypes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AVPR2 in Unexplained young onset end-stage renal disease
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AVPR2 in Renal tubulopathies
Level 3: Disorders of function
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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AVPR2 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AVPR2 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AVPR2 in Hereditary isolated diabetes insipidus
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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