Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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VACTERL association
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VACTERL association with hydrocephaly, X-linked
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VACTERL hydrocephaly
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Vacuolar myopathy
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Vagina, absence of
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Vaginal cancer
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Vagneur Triolle Ripert syndrome
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Valinemia
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Valproic acid antenatal infection
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Van Allen Myhre syndrome
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Van Bogaert-Hozay syndrome
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Van Buchem disease type 2
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Van Den Bosch syndrome
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Van der Woude syndrome
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Van der Woude syndrome 2
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Van Goethem syndrome
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Van Maldergem Wetzburger Verloes syndrome
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Van Regemorter Pierquin Vamos syndrome
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Vancomycin-resistant enterococcal bacteremia
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Varadi Papp syndrome
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Variant Creutzfeldt-Jakob disease
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Varicella virus antenatal infection
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Varicella Zoster
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Variegate porphyria
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Vascular malposition
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Vasculitis, autoimmune
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Vasculitis, cutaneous necrotizing
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Vasculopathy, retinal, with cerebral leukodystrophy
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Vasopressin-resistant diabetes insipidus
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Vasquez Hurst Sotos syndrome
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VATER association
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Vein of Galen aneurysm
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Velocardiofacial syndrome
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Velofacioskeletal syndrome
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Velopharyngeal incompetence
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Venencie Powell Winkelmann syndrome
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Ventricular extrasystoles perodactyly Robin sequence
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Ventricular familial preexcitation syndrome
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Ventricular fibrillation, idiopathic
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Ventricular septal defects
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Ventriculo-arterial discordance, isolated
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Ventruto Digirolamo Festa syndrome
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Verloes Bourguignon syndrome
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Verloes Gillerot Fryns syndrome
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Verloes Van Maldergem Marneffe syndrome
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Verloove Vanhorick Brubakk syndrome
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Vernal keratoconjunctivitis
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Verrucous nevus
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Verrucous nevus acanthokeratolytic
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Vertebral body fusion overgrowth
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Vertebral fusion posterior lumbosacral blepharoptosis
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Vertical talus, congenital
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Vestibulocochlear dysfunction progressive familial
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Vibratory angioedema
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Vibrio vulnificus infection
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Vibrios (other than Vibrio cholerae)
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Viljoen Kallis Voges syndrome
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Viljoen Smart syndrome
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Viljoen Winship syndrome
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VIPoma
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Viral hemorrhagic fever
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Virilizing ovarian tumor
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Virus associated hemophagocytic syndrome
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Visceral myopathy familial external ophthalmoplegia
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Visceral steatosis
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Viscero-atrial heterotaxia
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Visual pathway and hypothalamic glioma, childhood
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Vitamin A embryopathy
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Vitamin D resistant rickets
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Vitiligo mental retardation facial dysmorphism uremia
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Vitreoretinal degeneration
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Vitreoretinochoroidopathy dominant
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VLCAD deficiency
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Vocal cord dysfunction familial
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Vogt-Koyanagi-Harada syndrome
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Vohwinkel syndrome
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Von Gierke disease
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Von Hippel-Lindau syndrome
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Von Willebrand disease
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Von Willebrand disease, dominant form
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Von Willebrand disease, platelet type
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Von Willebrand disease, recessive form
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Vulvar cancer
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Vulvar Vestibulitis Syndrome
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