loading...| Preferred Name |
HARTNUP DISORDER |
|
| Synonyms |
HARTNUP DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/234500 |
|
| altLabel |
HARTNUP DISEASE HND |
|
| cui |
C0018609 |
|
| Gene Locus |
5p15.33 |
|
| Gene Symbol |
HND SLC6A19 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012529 http://purl.bioontology.org/ontology/OMIM/MTHU067616 http://purl.bioontology.org/ontology/OMIM/MTHU012530 http://purl.bioontology.org/ontology/OMIM/MTHU012534 http://purl.bioontology.org/ontology/OMIM/MTHU012528 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU012533 http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
234500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HARTNUP DISORDER |
|
| Scope Statement |
Caused by mutation in the system B(0) neutral amino acid transporter-1 gene (SLC6A19, 608893.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |