Joubert syndrome with oculorenal defect
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease
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Joubert syndrome with oculorenal defect
Summary
Joubert syndrome with oculorenal defect is a genetic disease[1].
Key Facts
- Joubert syndrome with oculorenal defect's instance of is recorded as genetic disease[2].
- Joubert syndrome with oculorenal defect's instance of is recorded as class of disease[3].
- Joubert syndrome with oculorenal defect's subclass of is recorded as Joubert syndrome[4].
- Joubert syndrome with oculorenal defect's subclass of is recorded as Joubert syndrome and related disorders[5].
- Joubert syndrome with oculorenal defect's MeSH descriptor ID is recorded as C537430[6].
- Joubert syndrome with oculorenal defect's OMIM ID is recorded as 243910[7].
- Joubert syndrome with oculorenal defect's KEGG ID is recorded as H01811[8].
- Joubert syndrome with oculorenal defect's Orphanet ID is recorded as 2318[9].
- Joubert syndrome with oculorenal defect's genetic association is recorded as TMEM138[10].
- Joubert syndrome with oculorenal defect's Google Knowledge Graph ID is recorded as /g/1218rzvg[11].
- Joubert syndrome with oculorenal defect's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2318[12].
- Joubert syndrome with oculorenal defect's UMLS CUI is recorded as C1855675[13].
- Joubert syndrome with oculorenal defect's ICD-10-CM is recorded as Q04.3[14].
- Joubert syndrome with oculorenal defect's GARD rare disease ID is recorded as 9455[15].
- Joubert syndrome with oculorenal defect's Mondo ID is recorded as MONDO_0009480[16].