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Results 1 - 10 of 37 for Intermediate phenotype
  1. SLC26A2 gene 
    ... heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. Am ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  2. SMPD1 gene 
    ... Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006 Oct; ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
  3. NLRP3 gene 
    ... Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies. Rheumatol Int. 2021 Jan;41(1): ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  4. Cryopyrin-associated periodic syndromes 
    ... Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies. Rheumatol Int. 2021 Jan;41(1): ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  5. Genes and Disease: Prader-Willi Syndrome From the National Institutes of Health (National Center for Biotechnology Information)  
    Prader-Willi Syndrome/Learn More ... Prader-Willi Syndrome ... National Center for Biotechnology Information ... From the National Institutes of Health ... Prader-Willi syndrome ( ...
    https://www.ncbi.nlm.nih.gov/books/NBK22195 - External Health Links
  6. Epidermolysis bullosa simplex 
    ... MOTTLED PIGMENTATION; EBS2F EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, ... bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol. 2013 Apr; ...
    https://medlineplus.gov/.../condition/epidermolysis-bullosa-simplex - Genetics
  7. PLEC gene 
    ... PCN PLEC1 PLEC1_HUMAN plectin 1 plectin 1, intermediate filament binding protein 500kDa Plectin-11 PLTN ... E, Lacour JP, Meneguzzi G. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol. 2013 Apr; ...
    https://medlineplus.gov/genetics/gene/plec - Genetics
  8. DSP gene 
    ... Kelsell DP. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
  9. Pachyonychia congenita 
    ... ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. ...
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita - Genetics
  10. Meesmann corneal dystrophy 
    ... 3 gene in an asymptomatic family suggests genotype-phenotype correlation. Mol Vis. 2008 Sep 15;14:1713- ...
    https://medlineplus.gov/.../condition/meesmann-corneal-dystrophy - Genetics
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