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Results 1 - 10 of 19 for osteoporosis autosomal recessive 5
  1. Severe congenital neutropenia 
    ... CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  2. Dyskeratosis congenita 
    ... DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5 PubMed Alter BP, Giri N, Savage SA, ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - 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. FLNB gene 
    ... Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Hum Mutat. 2017 May;38(5):540-547. doi: 10.1002/humu.23186. Epub ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  5. 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 ...
    https://medlineplus.gov/.../familial-exudative-vitreoretinopathy - Genetics
  6. Idiopathic infantile hypercalcemia 
    ... 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 2015 Jun 5. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - 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 2015 Jun 5. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/slc34a1 - Genetics
  8. Mucolipidosis III gamma 
    ... cell. GNPTG This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma - Genetics
  9. Microvillus inclusion disease 
    ... Gene: STX3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/microvillus-inclusion-disease - Genetics
  10. Multicentric osteolysis, nodulosis, and arthropathy 
    ... unknown. MMP2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/...tric-osteolysis-nodulosis-and-arthropathy - Genetics
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