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Results 1 - 10 of 26 for osteoporosis autosomal recessive 2
  1. Dyskeratosis congenita 
    ... CONGENITA, X-LINKED; DKCX REVESZ SYNDROME DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 DYSKERATOSIS ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  2. Severe congenital neutropenia 
    ... 4, AUTOSOMAL RECESSIVE; SCN4 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  3. Osteoporosis-pseudoglioma syndrome 
    ... eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. LRP5 Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics
  4. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... IMAGe 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
  5. Idiopathic infantile hypercalcemia 
    ... condition. CYP24A1 SLC34A1 Infantile hypercalcemia types 1 and 2 are thought to be inherited in an autosomal recessive pattern, which means both copies of the respective ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
  6. Mucolipidosis III alpha/beta 
    ... alpha/beta and mucolipidosis II alpha/beta represent two ends of a spectrum of disease severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  7. SLC34A1 gene 
    ... Hernando N, Jones G, Wagner CA, Konrad M. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub ...
    https://medlineplus.gov/genetics/gene/slc34a1 - Genetics
  8. Familial exudative vitreoretinopathy 
    ... Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet. 2004 Nov;75(5):878-84. doi: 10.1086/425080. Epub 2004 Sep 2. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../familial-exudative-vitreoretinopathy - Genetics
  9. Lysinuric protein intolerance 
    ... lysine may contribute to the short stature and osteoporosis seen in people with lysinuric protein intolerance. However, the ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  10. Multicentric osteolysis, nodulosis, and arthropathy 
    ... bone tissue. How a shortage of matrix metallopeptidase 2 leads to the other features of MONA, such as subcutaneous nodules and skin abnormalities, is unknown. MMP2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...tric-osteolysis-nodulosis-and-arthropathy - Genetics
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