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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300804
http://purl.bioontology.org/ontology/OMIM/300804
|
|---|---|
| Preferred Name | JOUBERT SYNDROME 10 |
| Synonyms |
JBTS10
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | JBTS10
|
|---|---|
| prefLabel | JOUBERT SYNDROME 10
|
| Gene Symbol |
RP23
OFD1
SGBS2
CXorf5
JBTS10
|
| Scope Statement | Variable dysmorphic features may be present [MISCELLANEOUS]
Caused by mutation in the OFD1 protein gene (OFD1, 300170.0008) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xp22.3-p22.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300804
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2749019
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |