PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Agenesis Of Cerebellar Vermis

Synonyms
Definitions

Congenital absence of the vermis of cerebellum.

ID

http://www.phoc.org.cn/pmo/class/PMO_00010145

Database_Cross_Reference

HPO:HP:0002335

NCI:C74996

MTH:NOCODE

SNOMEDCT_US:204053001

MSH:C536293

CHV:0000034162

OMIM:613037

MEDCIN:312974

CSP:0944-7801

OMIM:MTHU000200

SNOMEDCT_US:716997004

RCD:X77rY

CSP:1254-7727

DO:DOID:0110980

JABL:375

OMIM:MTHU039930

SNOMEDCT_US:253175003

SNOMEDCT_US:156895002

OMIM:213300

MDR:10078574

Definition

Congenital absence of the vermis of cerebellum.

label

Agenesis Of Cerebellar Vermis

MCID

MC00145593

PMOID

PMO:00010145

prefixIRI

pmo:PMO_00010145

prefLabel

Agenesis Of Cerebellar Vermis

Synonym

Familial aplasia of the vermis (disorder)

jouberts syndrome

Cerebello-Oculo-Renal Syndrome

Cerebelloparenchymal disorder 4

Familial aplasia of the vermis

Joubert syndrome

Cerebellooculorenal syndrome 1

syndrome joubert

Cerebellar vermis aplasia

CORS1

cerebelloparenchymal disorder IV (CPD IV)

Joubert-Boltshauser syndrome

cerebellar vermis agenesis

Agenesis of cerebellar vermis

Joubert syndrome (disorder)

JOUBERT SYNDROME 1

Joubert syndrome (diagnosis)

cerebelloparenchymal disorder IV

JBTS1

CPD4

JBTS

Tree Number

T3.17.4.5.16.4.1.2.1.3.1.3

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00010144

Delete Subject Author Type Created
No notes to display