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Results 1 - 10 of 121 for large "syndrome," dominant type
  1. COL3A1 gene 
    ... 1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) EDS4A Tests of COL3A1 PubMed COLLAGEN, TYPE III, ALPHA-1; COL3A1 NCBI Gene ClinVar Beridze N, Frishman WH. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its ...
    https://medlineplus.gov/genetics/gene/col3a1 - Genetics
  2. Ehlers-Danlos syndrome 
    ... DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED BRITTLE CORNEA SYNDROME 1; BCS1 EHLERS-DANLOS ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  3. Hajdu-Cheney syndrome 
    ... inherits the mutation from one affected parent. Acroosteolysis dominant type Acroosteolysis with osteoporosis and changes in skull and mandible Arthro-dento-osteo dysplasia Arthrodentoosteodysplasia Cheney syndrome Cranioskeletal dysplasia with acro-osteolysis Familial osteodysplasia Hereditary ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  4. Bernard-Soulier syndrome 
    ... National Organization for Rare Disorders (NORD) BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2 BERNARD-SOULIER SYNDROME; BSS PubMed Andrews RK, ...
    https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome - Genetics
  5. Oral-facial-digital syndrome 
    ... Group. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat. 2008 Oct;29( ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  6. Lynch syndrome 
    ... inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of ...
    https://medlineplus.gov/genetics/condition/lynch-syndrome - Genetics
  7. Gray platelet syndrome 
    ... gene or genes are associated with the autosomal dominant form of gray platelet syndrome. BDPLT4 Bleeding disorder, platelet-type, 4 Deficient alpha granule syndrome GPS Grey platelet ...
    https://medlineplus.gov/genetics/condition/gray-platelet-syndrome - Genetics
  8. Ehlers-Danlos Syndrome Hypermobility Type (Marfan Foundation) - PDF  
    Ehlers-Danlos Syndrome/Learn More ... Ehlers-Danlos Syndrome ... Marfan Foundation ... PDF
    https://live-the-marfan-foundation-site.pantheonsite.io/...-Type.pdf - External Health Links
  9. Legius syndrome 
    ... SPRED1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Neurofibromatosis type 1-like syndrome NFLS Genetic Testing Registry: Legius syndrome Legius syndrome ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics
  10. Waardenburg syndrome 
    ... SOX10, EDN3, or EDNRB gene can cause Waardenburg syndrome type IV. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Variants in any of these genes result ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
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