Medical Subject Headings

Last uploaded: April 29, 2019
Preferred Name

Joubert syndrome 1

Synonyms

Cerebellar vermis agenesis

ID

http://purl.bioontology.org/ontology/MESH/C536293

altLabel

Cerebellar vermis agenesis

Cerebelloparenchymal disorder 4

Agenesis of Cerebellar Vermis

Familial Aplasia of the Vermis

Cerebellooculorenal syndrome 1

Joubert-Boltshauser syndrome

Joubert Syndrome

Cerebello-Oculo-Renal Syndrome

Cerebelloparenchymal Disorder IV

cui

C0431399

C4551568

Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000002

HM

D000015

D012160/Q000002

D052177

D002531/Q000002

D005124

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D005124

http://purl.bioontology.org/ontology/MESH/D052177

http://purl.bioontology.org/ontology/MESH/D012160

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D002531

MDA

20100825

MeSH Frequency

203

MMR

20160707

notation

C536293

prefLabel

Joubert syndrome 1

SC

3

Scope Statement

A clinically and genetically heterogeneous group of disorders. Brain imaging of patients shows a distinct "molar tooth sign." In infants, symptoms include hypotonia, breathing, and eye movement abnormalities, and characteristic facial features. Germline mutations in more than 10 different genes account for half all cases, including, TMEM216, TMEM237, AHI1, NPHP1, CEP290, INPP5E, and CSPP1 genes. OMIM: 213300

TERMUI

T738875

T000880731

T826513

T738874

T738872

T738873

T801871

T738878

T000880729

T000880730

TH

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

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http://purl.bioontology.org/ontology/RCD/X77rY RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10078574 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0008944 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008944 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536293 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253175003 SNOMEDCT CUI
http://identifiers.org/omim/213300 RETO LOOM
http://identifiers.org/omim/213300 GEXO LOOM
http://identifiers.org/omim/213300 REXO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039930 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000200 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/716997004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/613037 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/213300 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/213300 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/213300 OMIM LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.obolibrary.org/obo/DOID_0110980 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110980 NIFSTD LOOM