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 32 for Inborn genetic diseases
  1. ETFB gene 
    ... WG, Hogg R, Gonsoulin W. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. Am J Perinatol. 1996 Apr;13(3):131-4. doi: 10.1055/s-2007-994309. Citation on PubMed
    https://medlineplus.gov/genetics/gene/etfb - Genetics
  2. Carbamoyl phosphate synthetase I deficiency 
    ... synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. In this condition, the ... I deficiency disease Carbamyl-phosphate synthetase I deficiency disease Congenital hyperammonemia, type I ... Genetic Testing Registry: Congenital hyperammonemia, type I Carbamoyl-phosphate ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
  3. Arginase deficiency 
    ... arginase.Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is ... symptoms of the condition. ARG1 deficiency Arginase deficiency disease Argininemia Hyperargininemia Genetic Testing Registry: Arginase deficiency Argininemia National Organization for ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  4. Hyperlysinemia 
    ... alpha-ketoglutarate reductase deficiency disease Saccharopine dehydrogenase deficiency disease Saccharopinuria Genetic Testing Registry: Hyperlysinemia Genetic Testing Registry: Saccharopinuria Hyperlysinemia ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  5. Riboflavin transporter deficiency neuronopathy 
    ... have similar signs and symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. Because these two conditions share a genetic cause and have overlapping features, researchers determined that ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  6. Severe congenital neutropenia 
    ... to their sons. Congenital agranulocytosis Congenital neutropenia Infantile genetic agranulocytosis Kostmann disease Kostmann's agranulocytosis Kostmann's syndrome Severe infantile ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  7. SLC52A3 gene 
    ... family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr-Jun;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014. Citation on PubMed
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  8. Methylmalonic acidemia with homocystinuria 
    ... methionine synthase activities Genetic Testing Registry: Cobalamin C disease Genetic Testing Registry: Methylmalonic aciduria and homocystinuria type cblD ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  9. Lesch-Nyhan syndrome 
    ... mental retardation syndrome Juvenile hyperuricemia syndrome Lesch-Nyhan disease LND LNS Primary hyperuricemia syndrome ... Lesch-Nyhan syndrome ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  10. Neuroferritinopathy 
    ... of the disorder in their family. Basal ganglia disease, adult-onset Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neurodegeneration with brain iron accumulation 3 Genetic Testing Registry: Neuroferritinopathy Neuroferritinopathy National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/neuroferritinopathy - Genetics
previous · 1 · 2 · 3 · 4 · next