Preferred Name |
Hartnup disease |
|
Synonyms |
neutral amino acid transport defect |
|
Definitions |
disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium. |
|
ID |
http://purl.bioontology.org/ontology/CSP/1849-4235 |
|
altLabel |
neutral amino acid transport defect |
|
cui |
C0018609 |
|
definition |
disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium. |
|
DID |
1849-4235 |
|
Inverse of RB | ||
notation |
1849-4235 |
|
prefLabel |
Hartnup disease |
|
tui |
T047 |
|
subClassOf |