Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Dyskeratosis Congenita
Synonyms
Definitions

A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region.
ID

http://purl.obolibrary.org/obo/NCIT_C111802
code

C111802
Contributing_Source

Cellosaurus

CCPS

CTRP
definition

A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region.
Display_Name

Dyskeratosis Congenita
in_subset

http://purl.obolibrary.org/obo/NCIT_C177516

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C177281

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C118168
label

Dyskeratosis Congenita
Preferred_Name

Dyskeratosis Congenita
prefixIRI

NCIT:C111802
prefLabel

Dyskeratosis Congenita
Related_To_Genetic_Biomarker

http://purl.obolibrary.org/obo/NCIT_C119707

http://purl.obolibrary.org/obo/NCIT_C152101

http://purl.obolibrary.org/obo/NCIT_C18173

http://purl.obolibrary.org/obo/NCIT_C20463

http://purl.obolibrary.org/obo/NCIT_C134632

http://purl.obolibrary.org/obo/NCIT_C20564

http://purl.obolibrary.org/obo/NCIT_C152090

http://purl.obolibrary.org/obo/NCIT_C152093

http://purl.obolibrary.org/obo/NCIT_C102959

http://purl.obolibrary.org/obo/NCIT_C113619
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0265965
subClassOf

http://purl.obolibrary.org/obo/NCIT_C156032
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http://purl.obolibrary.org/obo/MONDO_0015780 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015780 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2200715 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200304 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200342 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_2729 DOID LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036614 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D019871 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.108 RH-MESH LOOM
http://www.gamuts.net/entity#dyskeratosis_congenita GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_1775 ORDO LOOM
http://purl.obolibrary.org/obo/DERMO_0000373 DERMO LOOM
http://purl.obolibrary.org/obo/OMIT_0019843 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D019871 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/74911008 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C111802 NCIT LOOM
http://purl.jp/bio/4/id/200906048921318161 IOBC LOOM
http://purl.bioontology.org/ontology/SNMI/D4-40140 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.150 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265965 OCHV LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17740 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0015780 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.235 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.235 RH-MESH LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000285967 PDQ LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2729 NATPRO LOOM
http://purl.bioontology.org/ontology/RCTV2/PH33700 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/X20Di RCD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_477 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.150 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25969 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2729 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2729 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2729 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2729 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2729 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2729 FNS-H LOOM