Human Disease Ontology

Last uploaded: November 27, 2024
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Preferred Name

acrocephalosyndactylia
Synonyms

Apert syndrome
Definitions

A synostosis that results_in craniosynostosis and syndactyly. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_12960
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

ICD9CM:755.55

SNOMEDCT_US_2023_03_01:63661009

MESH:D000168

UMLS_CUI:C1510455

MIM:101200

NCI:C34348
definition

A synostosis that results_in craniosynostosis and syndactyly.
has exact match

MESH:D000168
has exact synonym

Apert syndrome
has_alternative_id

DOID:0080004
has_obo_namespace

disease_ontology
id

DOID:12960
in_subset

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

acrocephalosyndactylia
notation

DOID:12960
prefLabel

acrocephalosyndactylia
subClassOf

http://purl.obolibrary.org/obo/DOID_11971
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12960 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12960 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12960 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12960 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_12960 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12960 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_12960 FNS-H SAME_URI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.707.249.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000168 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0001605 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.894.232.015 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#653 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_12960 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12960 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12960 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12960 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_12960 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12960 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_12960 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.585.800.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.906.364.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.906.819.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.707.249.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.240.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.585.800.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.894.819.100 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039922 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906011289719863 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.240.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.906.819.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.906.364.100 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12960 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D000168 MESH LOOM
http://www.gamuts.net/entity#Apert_syndrome GAMUTS REST