Preferred Name

Dyskeratosis congenita

Synonyms

DKC

Síndrome de Zinsser-Cole-Engman

DQC

Zinsser-Engman-Cole syndrome

ID

http://www.limics.org/hrdo/rdfns#pat_id_477

ageOfOnset

Kindesalter

Infanzia

Childhood

Infância

Infancia

Childhood

Enfance

altLabel

DKC

Síndrome de Zinsser-Cole-Engman

DQC

Zinsser-Engman-Cole syndrome

DKC

Syndrome de Zinsser-Engman-Cole

DKC

DKC

Sindrome di Zinsser-Engman-Cole

DKC

id_MedDRA

10062759

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22dyskeratosis+congenita%22%5BMeSH+Terms%5D+OR+Dyskeratosis+congenita%5BTi%5D

id_MeSH

D019871

id_MIM

127550

224230

305000

613987

613988

613989

613990

615190

id_OMS

Q82.8

id_Orpha

1775

id_SNOMEDCT

74911008

id_UMLS

C0265965

inheritance

X-linked recessive

Autosómico recesivo

Recesivo ligado al X

Autosomal recessive

Ligado ao X recessivo

Recessiva legata all'X

Autosomal dominant

Autosomique dominant

X-linked recessive

Autossómica recessiva

Autosomica recessiva

Autosomal dominant

Autosomica dominante

Récessif lié à l'X

Autosomal recessive

Autosómico dominate

Autosomal-dominant

Autosomique récessif

Autossómica dominante

Autosomal-rezessiv

X-chromosomal-rezessiv

patType

disease

prefixIRI

hrdo:pat_id_477

prefLabel

Dyskeratosis congenita

Disqueratosis congénita

Dyskeratosis congenita

Disqueratose congénita

Dyskératose congénitale

Discheratosi congenita

prevalence

1-9 / 1 000 000

1-9 / 1 000 000

1-9 / 1 000 000

1-9 / 1 000 000

1-9 / 1 000 000

1-9 / 1 000 000

1-9 / 1 000 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11

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Delete Mapping To Ontology Source
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://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/NCIT_C111802 BERO 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