Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 20 for Intermediate severe small disease
  1. Charcot-Marie-Tooth disease 
    ... have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy.Typically, the earliest ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  2. Von Willebrand disease 
    ... percent of cases. This type is usually of intermediate severity. Type 3 is the ... such as diseases that affect bone marrow or immune cell function. ...
    https://medlineplus.gov/genetics/condition/von-willebrand-disease - Genetics
  3. KRT5 gene 
    ... Most KRT5 gene mutations that cause Dowling-Degos disease lead to the ... of keratin intermediate filaments. As a result, the organization of the ...
    https://medlineplus.gov/genetics/gene/krt5 - Genetics
  4. Glutaric acidemia type I 
    ... Excessive levels of these amino acids and their intermediate breakdown ... but in a small number of affected individuals, the disorder first becomes ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  5. LAMC2 gene 
    ... the formation of blisters. Infants with JEB generalized severe develop ... Others add or remove a small number of amino acids in the gamma subunit ...
    https://medlineplus.gov/genetics/gene/lamc2 - Genetics
  6. LAMA3 gene 
    ... the formation of blisters. Infants with JEB generalized severe develop ... Others add or remove a small number of amino acids in the alpha subunit ...
    https://medlineplus.gov/genetics/gene/lama3 - Genetics
  7. LAMB3 gene 
    ... the formation of blisters. Infants with JEB generalized severe develop ... Others add or delete a small number of amino acids in the beta subunit ...
    https://medlineplus.gov/genetics/gene/lamb3 - Genetics
  8. Atopic dermatitis 
    ... AL, Milner JD. Germline hypomorphic CARD11 mutations in severe atopic disease. Nat Genet. 2017 Aug;49(8):1192-1201. ...
    https://medlineplus.gov/genetics/condition/atopic-dermatitis - Genetics
  9. Nemaline myopathy 
    ... In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  10. SMPD1 gene 
    ... Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr. 2006 Oct;149(4):554-9. ...
    https://medlineplus.gov/genetics/gene/smpd1 - Genetics
previous · 1 · 2 · next