PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Acrocephalosyndactylia
Synonyms
Definitions

A synostosis that results_in craniosynostosis and syndactyly.

ID

http://www.phoc.org.cn/pmo/class/PMO_00039922

Database_Cross_Reference

MTH:NOCODE

MEDCIN:211310

SNOMEDCT_US:268262006

ICD9CM:755.55

CCPSS:0062974

SNM:M-22560

NDFRT:N0000000292

RCD:PF552

SNOMEDCT_US:205257004

NCI_NICHD:C34348

RCD:XE1Lu

DO:DOID:12960

NCI:C34348

MSH:D000168

SNOMEDCT_US:63661009

MDR:10000590

SNMI:D4-00C04

Definition

A synostosis that results_in craniosynostosis and syndactyly.

label

Acrocephalosyndactylia

MCID

MC00522898

PMOID

PMO:00039922

prefixIRI

pmo:PMO_00039922

prefLabel

Acrocephalosyndactylia

Synonym

Kurczynski Casperson Syndrome

acrocephalosyndactyly (diagnosis)

Acrocephalosyndactyly, type I

Acrocephalosyndactylia [Disease/Finding]

Acrocephalosyndactyly

Apert syndrome

Syndrome, Kurczynski Casperson

Acrocephalosyndactyly (disorder)

Acrocephalosyndactylias

Acroencephalosyndactyly

acrocephalosyndactylia

ACROCEPHALOSYNDACTYLY

Acrocephalopolysyndactyly

acrocephalosyndactyly

Tree Number

T9.8.3.7.2.4.2

T9.8.3.7.8.13.1

T9.8.3.7.11.9.2

T9.3.6.8.13.1

T9.8.3.7.2.3.1

T9.3.9.22.2.2.4.2

T9.3.9.22.2.2.3.1

T9.3.6.2.3.1

T9.3.6.2.4.2

T9.3.6.11.9.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00085624

http://www.phoc.org.cn/pmo/class/PMO_00002373

http://www.phoc.org.cn/pmo/class/PMO_00039921

http://www.phoc.org.cn/pmo/class/PMO_00002347

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