Jump to:
loading...| Preferred Name |
nephronophthisis 1 |
|
| Synonyms |
juvenile nephronophthisis 1 |
|
| Definitions |
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111112 |
|
| database_cross_reference |
MIM:256100 |
|
| definition |
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. |
|
| has exact synonym |
juvenile nephronophthisis 1 NPH1 NPHP1 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111112 |
|
| label |
nephronophthisis 1 |
|
| notation |
DOID:0111112 |
|
| prefLabel |
nephronophthisis 1 |
|
| subClassOf |
Create mapping