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Results 1 - 10 of 14 for Autosomal dominant osteoporosis 2
  1. Dyskeratosis congenita 
    ... DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3 DYSKERATOSIS ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  2. Severe congenital neutropenia 
    ... CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE; SCN7 ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  3. CASR gene 
    ... sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014 Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430. ...
    https://medlineplus.gov/genetics/gene/casr - Genetics
  4. LRP5 gene 
    ... LRP5 gene may influence the risk of developing osteoporosis in adulthood. ... dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
  5. Hajdu-Cheney syndrome 
    ... condition. NOTCH2 ... Acroosteolysis dominant type Acroosteolysis with osteoporosis and changes in skull and mandible Arthro-dento- ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  6. Hyperparathyroidism-jaw tumor syndrome 
    ... unknown. CDC73 ... Genetic Testing Registry: Hyperparathyroidism 2 with jaw tumors ...
    https://medlineplus.gov/.../hyperparathyroidism-jaw-tumor-syndrome - Genetics
  7. FLNB gene 
    ... Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in ... synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  8. Familial exudative vitreoretinopathy 
    ... the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ... sufficient to cause the disorder. Most people with autosomal dominant familial exudative vitreoretinopathy inherit the altered gene from ...
    https://medlineplus.gov/.../familial-exudative-vitreoretinopathy - Genetics
  9. Mineral and Bone Disorder in Chronic Kidney Disease From the National Institutes of Health (National Institute of Diabetes and Digestive and Kidney Diseases)  
    Dialysis/Related Issues ... Dialysis ... Parathyroid Disorders/Related Issues ... Parathyroid Disorders ... Rickets/Learn More ... Rickets ... Kidney Failure/Related Issues ... Kidney Failure
    https://www.niddk.nih.gov/.../kidney-disease/mineral-bone-disorder - External Health Links
  10. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... complex. The condition is described as having an autosomal dominant inheritance pattern because one copy of the altered ... association: additional clinical features and evidence for recessive autosomal inheritance. Horm Res. 2002;57 Suppl 2:71-8. doi: 10.1159/000058105. Citation on ...
    https://medlineplus.gov/...ypoplasia-congenita-and-genital-anomalies - Genetics
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