FNS-Harmony

Last uploaded: November 2, 2023
Jump to:
Preferred Name

progeria
Synonyms
Definitions

A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22.
ID

http://purl.obolibrary.org/obo/DOID_3911
definition

A syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

progeria
prefixIRI

DOID:3911
prefLabel

progeria
subClassOf

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

http://purl.obolibrary.org/obo/DOID_225
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3911 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3911 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3911 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_3911 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3911 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_3911 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3911 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0020732 MONDO LOOM
http://www.ebi.ac.uk/efo/EFO_0000671 CLO LOOM
http://purl.bioontology.org/ontology/MESH/D011371 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0012326 OMIT LOOM
http://purl.bioontology.org/ontology/RCD/C1zy1 RCD LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14939 DERMLEX LOOM
http://purl.obolibrary.org/obo/NCIT_C34951 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Progeria CSEO LOOM
http://purl.jp/bio/4/id/200906029753353440 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011371 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C1zy100 RCTV2 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036794 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0033300 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.753 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0033300 MEDLINEPLUS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036704 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_3911 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3911 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3911 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3911 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3911 NIFSTD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3911 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.753 RH-MESH LOOM
http://localhost/plosthes.2017-1#5618 PLOSTHES LOOM
http://id.nlm.nih.gov/mesh/D011371 MDM LOOM
rgo:08696 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#10157 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0020732 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0020732 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0020732 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34951 NCIT LOOM