Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618763
http://purl.bioontology.org/ontology/OMIM/618763
Preferred Name

JOUBERT SYNDROME 36
Synonyms
JBTS36
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
JBTS36
prefLabel
JOUBERT SYNDROME 36
Gene Symbol
FAM149B1
JBTS36
KIAA0974
Scope Statement
Caused by mutation in the family with sequence similarity 149, member B1 gene (FAM149B1, 618413.0001) [MOLECULAR BASIS]
Six patients from 4 unrelated consanguineous Middle Eastern families have been reported (last curated January, 2020) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000629
http://purl.bioontology.org/ontology/OMIM/MTHU053248
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU005348
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU066973
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU012363
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU000265
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU000091
http://purl.bioontology.org/ontology/OMIM/MTHU031837
http://purl.bioontology.org/ontology/OMIM/MTHU066971
http://purl.bioontology.org/ontology/OMIM/MTHU004785
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU066972
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tui
T047
Gene Locus
10q22.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618763
Semantic type UMLS property
Has inheritance type
cui
C5231493
OMIM Entry Type
3
OMIM MimType Value
pound
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