Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

focal dermal hypoplasia
Synonyms

focal dermal hypoplasia

focal dermal hypoplasia, X-linked dominant

Goltz-Gorlin syndrome

Goltz syndrome

DHOF

FDH

Fodh

Goltz Gorlin syndrome
Definitions

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
ID

http://purl.obolibrary.org/obo/MONDO_0010592
has_exact_synonym

focal dermal hypoplasia

focal dermal hypoplasia, X-linked dominant

Goltz-Gorlin syndrome

Goltz syndrome
has_related_synonym

DHOF

FDH

Fodh

Goltz Gorlin syndrome
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521
label

focal dermal hypoplasia
prefixIRI

MONDO:0010592
prefLabel

focal dermal hypoplasia
textual definition

A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019755

http://purl.obolibrary.org/obo/MONDO_0020119
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http://purl.obolibrary.org/obo/MONDO_0010592 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010592 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010592 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2120 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010592 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_2120 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.250.424 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205573006 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_2092 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Focal_Dermal_Hypoplasia CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33400 RCTV2 LOOM
http://id.nlm.nih.gov/mesh/D005489 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.380 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039334 PMAPP-PMO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14668 DERMLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C84715 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.350.424 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84715 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.350.424 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.186 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005489 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.350.424 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/305600 OMIM LOOM
http://purl.obolibrary.org/obo/DERMO_0000363 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.250.424 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2004 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D005489 MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2120 NATPRO LOOM
http://purl.jp/bio/4/id/200906064292554740 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0006696 OMIT LOOM
http://purl.obolibrary.org/obo/OMIM_305600 CCO LOOM
http://identifiers.org/omim/305600 REXO LOOM
http://identifiers.org/omim/305600 GEXO LOOM
http://identifiers.org/omim/305600 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#5143 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2120 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2120 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2120 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2120 FNS-H LOOM