Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

Dubowitz syndrome

Synonyms

Dubowitz's syndrome

Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.

ID

http://purl.obolibrary.org/obo/DOID_14796

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2023_03_01:2593002

UMLS_CUI:C0175691

ICD10CM:Q87.19

MEDDRA:10059589

MESH:C535718

NCI:C125591

OMIM:223370

GARD:6290

has exact synonym

Dubowitz's syndrome

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has symptom

http://purl.obolibrary.org/obo/SYMP_0000369

has_obo_namespace

disease_ontology

id

DOID:14796

in_subset

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

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

label

Dubowitz syndrome

notation

DOID:14796

prefLabel

Dubowitz syndrome

textual definition

A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14796 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14796 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14796 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14796 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14796 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009124 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009124 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14796 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535718 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_14796 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14796 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14796 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14796 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0009124 DOVES LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14833 DERMLEX LOOM
http://www.gamuts.net/entity#Dubowitz_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy6600 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C125591 BERO LOOM
http://purl.bioontology.org/ontology/RCD/PKy66 RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10059589 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125591 NCIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14796 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/C535718 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_235 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_472 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/223370 OMIM LOOM