National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Progeria
Synonyms

Hutchinson-Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Premature Senility Syndrome

Progeria

Definitions

A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34951

code

C34951

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.

FULL_SYN

Hutchinson-Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Premature Senility Syndrome

Progeria

label

Progeria

Legacy Concept Name

Progeria

Preferred_Name

Progeria

prefixIRI

Thesaurus:C34951

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0033300

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Delete Mapping To Ontology Source
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://purl.obolibrary.org/obo/DOID_3911 FNS-H 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