Preferred Name |
Senior-Loken syndrome 1 |
|
Synonyms |
Senior-Loken syndrome SENIOR-Loken syndrome 1 renal dysplasia and retinal aplasia renal-retinal syndrome juvenile nephronophthisis with Leber amaurosis Loken-Senior syndrome SLSN1 senior-loken syndrome-1 NPHP1 Senior-Loken syndrome Senior-Loken syndrome 1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 |
|
Definitions |
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0009962 |
|
database_cross_reference |
ICD9:759.89 OMIM:266900 SCTID:236531005 |
|
definition |
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. |
|
exactMatch | ||
has_exact_synonym |
senior-loken syndrome-1 NPHP1 Senior-Loken syndrome Senior-Loken syndrome 1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 |
|
has_related_synonym |
Senior-Loken syndrome SENIOR-Loken syndrome 1 renal dysplasia and retinal aplasia renal-retinal syndrome juvenile nephronophthisis with Leber amaurosis Loken-Senior syndrome SLSN1 |
|
IAO_0000233 | ||
id |
MONDO:0009962 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
label |
Senior-Loken syndrome 1 |
|
notation |
MONDO:0009962 |
|
preferred label |
Senior-Loken syndrome 1 |
|
prefLabel |
Senior-Loken syndrome 1 |
|
subClassOf |