Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

ACROCALLOSAL SYNDROME
Synonyms

SCHINZEL ACROCALLOSAL SYNDROME

JBTS12

HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM

JOUBERT SYNDROME 12/15, DIGENIC

ACLS

JOUBERT SYNDROME 12
ID

http://purl.bioontology.org/ontology/OMIM/200990
altLabel

SCHINZEL ACROCALLOSAL SYNDROME

JBTS12

HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM

JOUBERT SYNDROME 12/15, DIGENIC

ACLS

JOUBERT SYNDROME 12
cui

C2931760

C3277723

C0796147

C3280899
Gene Locus

15q26.1
Gene Symbol

AGBK

ACLS

JBTS12

HLS2

KIF7
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU031558

http://purl.bioontology.org/ontology/OMIM/MTHU007485

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU014808

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU014810

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU014806

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU067453

http://purl.bioontology.org/ontology/OMIM/MTHU014812

http://purl.bioontology.org/ontology/OMIM/MTHU001447

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU004211

http://purl.bioontology.org/ontology/OMIM/MTHU000566

http://purl.bioontology.org/ontology/OMIM/MTHU000512

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

http://purl.bioontology.org/ontology/OMIM/MTHU004601

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

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000261

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU001450

http://purl.bioontology.org/ontology/OMIM/MTHU002108

http://purl.bioontology.org/ontology/OMIM/MTHU009601

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU036360

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

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU014813

http://purl.bioontology.org/ontology/OMIM/MTHU007034

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU008870

http://purl.bioontology.org/ontology/OMIM/MTHU036404

http://purl.bioontology.org/ontology/OMIM/MTHU036423

http://purl.bioontology.org/ontology/OMIM/MTHU014809

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000242

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

http://purl.bioontology.org/ontology/OMIM/MTHU014807

http://purl.bioontology.org/ontology/OMIM/MTHU012405
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

200990
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ACROCALLOSAL SYNDROME
Scope Statement

Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0001) [MOLECULAR BASIS]

Variable phenotype [MISCELLANEOUS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538177 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D055673 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10083871 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10083871 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10083871 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181177 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10083865 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D055673 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10083865 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10083865 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/715951007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715951007 SNOMEDCT CUI
http://www.orpha.net/ORDO/Orphanet_36 ORDO LOOM
http://purl.jp/bio/4/id/200906044777454904 IOBC LOOM
http://identifiers.org/omim/200990 REXO LOOM
http://identifiers.org/omim/200990 GEXO LOOM
http://identifiers.org/omim/200990 RETO LOOM
http://www.gamuts.net/entity#acrocallosal_syndrome GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84531 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D055673 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_200990 CCO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acrocallosal_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/MESH/D055673 MESH LOOM
http://purl.obolibrary.org/obo/DOID_9250 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9250 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9250 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9250 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9250 FNS-H LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036530 PMAPP-PMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9250 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.034.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083865 MEDDRA LOOM
http://id.nlm.nih.gov/mesh/D055673 MDM LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Acrocallosal_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Acrocallosal_Syndrome MEPO LOOM
http://purl.obolibrary.org/obo/OMIT_0026419 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.034.500 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_405 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008708 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008708 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008708 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0796147 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84531 BERO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/715951007 SNOMEDCT LOOM
http://purl.org/skeletome/bonedysplasia#Acrocallosal_syndrome BDO LOOM