Human Disease Ontology

Last uploaded: March 29, 2024
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Preferred Name

acrocallosal syndrome
Synonyms

Schinzel syndrome 1
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_9250
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

OMIM:200990

UMLS_CUI:C0796147

MESH:D055673

SNOMEDCT_US_2023_03_01:715951007

GARD:5721

NCI:C84531
definition

A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
has exact match

MESH:D055673
has exact synonym

Schinzel syndrome 1

SCHINZEL ACROCALLOSAL SYNDROME

ACLS
has material basis in

http://purl.obolibrary.org/obo/GENO_0000932

http://purl.obolibrary.org/obo/GENO_0000930
has_obo_namespace

disease_ontology
id

DOID:9250
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

acrocallosal syndrome
notation

DOID:9250
prefLabel

acrocallosal syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0080578

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9250 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_9250 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_9250 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_9250 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008708 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008708 MONDO LOOM
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 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://purl.bioontology.org/ontology/OMIM/200990 OMIM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_405 HRDO 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
http://www.gamuts.net/entity#acrocallosal_syndrome GAMUTS REST