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 |
OMIM: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