Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

JOUBERT SYNDROME 10

Synonyms

JBTS10

ID

http://purl.bioontology.org/ontology/OMIM/300804

altLabel

JBTS10

cui

C2749019

Gene Locus

Xp22.3-p22.2

Gene Symbol

JBTS10

SGBS2

RP23

OFD1

CXorf5

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU002015

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU014179

http://purl.bioontology.org/ontology/OMIM/MTHU008529

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU053876

http://purl.bioontology.org/ontology/OMIM/MTHU009667

http://purl.bioontology.org/ontology/OMIM/MTHU053874

http://purl.bioontology.org/ontology/OMIM/MTHU053872

http://purl.bioontology.org/ontology/OMIM/MTHU031837

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU025905

http://purl.bioontology.org/ontology/OMIM/MTHU036571

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU036118

http://purl.bioontology.org/ontology/OMIM/MTHU000068

http://purl.bioontology.org/ontology/OMIM/MTHU004040

http://purl.bioontology.org/ontology/OMIM/MTHU053873

http://purl.bioontology.org/ontology/OMIM/MTHU053871

http://purl.bioontology.org/ontology/OMIM/MTHU053875

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU021707

http://purl.bioontology.org/ontology/OMIM/MTHU000094

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

300804

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

JOUBERT SYNDROME 10

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567582 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567582 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0110981 Human Disease Ontology 123 LOOM