Human Disease Ontology

Last uploaded: March 29, 2024
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Preferred Name

Saethre-Chotzen syndrome
Synonyms

acrocephalosyndactyly type III
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_14768
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0175699

OMIM:101400

OMIM:180750

SNOMEDCT_US_2023_03_01:390726000

MESH:D000168

GARD:7598

NCI:C75034

ORDO:794
definition

An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
has_related_synonym

acrocephalosyndactyly type III
id

DOID:14768
in_subset

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

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

Saethre-Chotzen syndrome
notation

DOID:14768
prefLabel

Saethre-Chotzen syndrome
subClassOf

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

http://purl.obolibrary.org/obo/DOID_0050736
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14768 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14768 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14768 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007042 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14768 FNS-H LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C01 SNMI LOOM
http://purl.bioontology.org/ontology/RCTV2/PF55300 RCTV2 LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14768 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_235 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14913 DERMLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175699 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/83015004 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#18176 OCHV LOOM
http://purl.org/skeletome/bonedysplasia#Saethre-Chotzen_syndrome BDO LOOM
http://www.orpha.net/ORDO/Orphanet_794 ORDO LOOM
http://purl.bioontology.org/ontology/OMIM/101400 OMIM LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Saethre-Chotzen_Syndrome PEDTERM LOOM
http://identifiers.org/omim/101400 REXO LOOM
http://identifiers.org/omim/101400 GEXO LOOM
http://identifiers.org/omim/101400 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0007042 DOVES LOOM
http://purl.jp/bio/4/id/200906003534087670 IOBC LOOM
http://purl.obolibrary.org/obo/OMIM_101400 CCO LOOM
http://www.gamuts.net/entity#Saethre_Chotzen_syndrome GAMUTS LOOM
http://www.gamuts.net/entity#Saethre_Chotzen_syndrome GAMUTS REST