Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

Weill-Marchesani syndrome
Synonyms

Mesodermal Dysmorphodystrophy, Congenital

Marchesani-Weill Syndrome

Spherophakia Brachymorphia Syndrome

congenital mesodermal dystrophy

GEMSS syndrome
Definitions

A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. Xref MGI. OMIM mapping confirmed by DO. [LS].
ID

http://purl.obolibrary.org/obo/DOID_0050475
comment

Xref MGI. OMIM mapping confirmed by DO. [LS].
database_cross_reference

UMLS_CUI:C0265313

MESH:D056846

UMLS_CUI:C1869115

UMLS_CUI:C1869114

MIM:PS277600

SNOMEDCT_US_2023_03_01:205801004

GARD:4936

MIM:277600

MIM:608328

MIM:613195

MIM:614819

NCI:C85226

ORDO:3449
definition

A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
has exact synonym

Mesodermal Dysmorphodystrophy, Congenital

Marchesani-Weill Syndrome

Spherophakia Brachymorphia Syndrome

congenital mesodermal dystrophy

GEMSS syndrome
has material basis in

http://purl.obolibrary.org/obo/GENO_0000934
has_obo_namespace

disease_ontology
id

DOID:0050475
in_subset

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

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

Weill-Marchesani syndrome
notation

DOID:0050475
prefLabel

Weill-Marchesani syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050739

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050475 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050475 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050475 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050475 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050475 FNS-H SAME_URI
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050475 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_0050475 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050475 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050475 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050475 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050475 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064963 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85226 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0026748 OMIT LOOM
rgo:27316 GAMUTS LOOM
http://purl.jp/bio/4/id/200906081909173953 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.941 RH-MESH LOOM
http://localhost/plosthes.2017-1#10734 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.921 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.957 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.842 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018096 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056846 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036593 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C85226 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.899 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.887 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_3449 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/2884008 SNOMEDCT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3033 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D056846 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Weill-Marchesani_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.875 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00D13 SNMI LOOM
http://www.gamuts.net/entity#Weill_Marchesani_syndrome GAMUTS REST
http://www.gamuts.net/entity#GEMSS_syndrome GAMUTS REST