Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
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Preferred Name

focal dermal hypoplasia
Synonyms

Goltz-Gorlin syndrome
Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
ID

http://purl.obolibrary.org/obo/DOID_2120
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0016395

MESH:D005489

OMIM:305600

SNOMEDCT_US_2023_03_01:205573006

GARD:6457

NCI:C84715

ORDO:2092
has exact synonym

Goltz-Gorlin syndrome

FDH

Goltz syndrome

FODH
has material basis in

http://purl.obolibrary.org/obo/GENO_0000146
has_obo_namespace

disease_ontology
id

DOID:2120
in_subset

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

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

focal dermal hypoplasia
notation

DOID:2120
prefLabel

focal dermal hypoplasia
textual definition

A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23.
subClassOf

http://purl.obolibrary.org/obo/DOID_0080009

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2120 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2120 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2120 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2120 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2120 FNS-H 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://purl.obolibrary.org/obo/MONDO_0010592 DOVES 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 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2120 FNS-H LOOM