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Results 1 - 10 of 12 for "osteoporosis," autosomal dominant 3
  1. Dyskeratosis congenita 
    ... DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5 PubMed ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  2. Severe congenital neutropenia 
    ... Disorders (NORD) ClinicalTrials.gov NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  3. LRP5 gene 
    ... receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet. 2002 Jan;70(1):11-9. doi: 10.1086/338450. Epub 2001 Dec 3. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
  4. Juvenile primary osteoporosis 
    ... unknown, the condition is often called idiopathic juvenile osteoporosis). It is likely that mutations in other genes that have not been identified are involved in this condition. LRP5 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/juvenile-primary-osteoporosis - Genetics
  5. Hajdu-Cheney syndrome 
    ... skeletal features of the disorder, including acro-osteolysis, osteoporosis, and distinctive facial ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  6. CASR gene 
    ... sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014 Feb;99( ... genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey. Clin Endocrinol (Oxf). 2011 ...
    https://medlineplus.gov/genetics/gene/casr - Genetics
  7. 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
  8. FLNB gene 
    ... A, Le Caignec C, David A, Jacquemont S. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  9. Swyer syndrome 
    ... limited). In inherited cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. ... a sex-limited autosomal recessive pattern, which means both copies of the ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  10. Cushing disease 
    ... Most of these disorders are inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/cushing-disease - Genetics
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