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Showing Results for "list of rare diseases-v"


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Factor V Leiden thrombophilia (Disease)
. Still, it is estimated that 95% of people with factor V Leiden never develop a clot. When a clot does form, the clot most often occurs in your leg (deep venous thrombosis or DVT) or lungs (pulmonary, embolism or PE).[1][2] Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a role in how your body forms blood clots after an injury. People can inherit one or two copies ...

Factor V deficiency (Disease)
reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss, -V. Accessed 4/17/2017. F5 gene. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/gene/F5. Do you know of a review article? We want to hear from you. You can help advance rare disease ...

Osteogenesis imperfecta type V (Disease)
professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database, : OI type 5; Type V OI; OI type V; OI type 5; Type V OI; OI type V; OI with calcification in interosseous membranes See More Categories: Congenital and Genetic Diseases; Musculoskeletal Diseases This ...

Mitochondrial complex V deficiency (Disease)
of information about patients that share something in common, such as being diagnosed with Mitochondrial complex V deficiency. The type of data collected can vary from registry to registry and is based, medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations ...

Hereditary sensory and autonomic neuropathy type V (Disease)
Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database, ; Hereditary sensory and autonomic neuropathy type 5; Neuropathy, hereditary sensory and autonomic, type V ; HSAN V; INSENSITIVITY TO PAIN, CONGENITAL See More Categories: Congenital and Genetic Diseases ...

Astroblastoma (Disease)
astroblastoma Categories: Rare Cancers Summary Summary Listen Astroblastoma is a rare glial tumor usually located in the cerebral hemisphere of the brain.[1] It can occur in individuals of any age, but occurs, predominantly in children and young adults.[2] Signs and symptoms depend on the location and size of the tumor but most commonly include headaches and seizures.[1] Because these tumors are rare, there is little ...

Hereditary sensory and autonomic neuropathy (Disease)
neuropathy type V; Hereditary sensory neuropathy type 1 See More Summary Summary Listen Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are, University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. News & Events News & Events Listen ...

Orofaciodigital syndrome 6 (Disease)
for information on rare diseases and orphan drugs. Access to this database is free of charge. News & Events News & Events Listen News Rare Disease Day at NIH 2021 March 1, 2021 GARD Answers GARD, Diseases; Musculoskeletal Diseases; Nervous System Diseases See More Summary Summary Listen The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan ...

Lupus erythematosus tumidus (Disease)
: Intermittent cutaneous lupus; Tumid lupus erythematosus Categories: Skin Diseases Subtypes: Cutaneous lupus erythematosus Summary Summary Listen Tumid erythematosus lupus is considered a rare type of chronic, Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. News & Events News & Events Listen News Rare Disease Day at NIH ...

Linear and whorled nevoid hypermelanosis (Disease)
Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database, lentiginous nevus; Zebra-like hyperpigmentation; Zosteriform hyperpigmentation; Reticulate hyperpigmentation of Iijima See More Categories: Congenital and Genetic Diseases; Skin Diseases Summary Summary Listen ...

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