Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Preferred Name

Fanconi anemia
Synonyms

Fanconi panmyelopathy

Fanconi's anaemia

Fanconi anaemia

Fanconi's anemia

Fanconi pancytopenia
Definitions

A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
ID

http://purl.obolibrary.org/obo/DOID_13636
comment

Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
alternative label

Fanconi panmyelopathy

Fanconi's anaemia

Fanconi anaemia

Fanconi's anemia

Fanconi pancytopenia
database_cross_reference

SNOMEDCT_US_2023_03_01:30575002

UMLS_CUI:C0015625

MESH:D005199

ICD10CM:D61.09

MIM:PS227650

GARD:6425

NCI:C62505

ORDO:84
definition

A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.

Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
has exact synonym

Fanconi panmyelopathy

Fanconi's anaemia

Fanconi anaemia

Fanconi's anemia

Fanconi pancytopenia
has_obo_namespace

disease_ontology
id

DOID:13636
in_subset

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

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

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

Fanconi anemia
notation

DOID:13636
note

A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.

Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
preferred label

Fanconi anemia
prefLabel

Fanconi anemia
subClassOf

http://purl.obolibrary.org/obo/DOID_1342
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13636 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_13636 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_13636 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_13636 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_13636 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_13636 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_13636 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_13636 FNS-H SAME_URI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0015625 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005199 RH-MESH LOOM
http://purl.jp/bio/4/id/200906050385709807 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_13636 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13636 DOID LOOM
http://purl.obolibrary.org/obo/DOID_13636 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13636 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_13636 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13636 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_13636 FNS-H LOOM
http://nanbyodata.jp/ontology/NANDO_1200891 NANDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_634 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200303 NANDO LOOM
http://purl.obolibrary.org/obo/OMIT_0006423 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.071.085.080.280 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15297 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019391 KTAO LOOM
http://purl.bioontology.org/ontology/MESH/D005199 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036568 PMAPP-PMO LOOM
http://purl.org/skeletome/bonedysplasia#Fanconi_anemia BDO LOOM
http://www.orpha.net/ORDO/Orphanet_84 ORDO LOOM
http://purl.obolibrary.org/obo/OMIM_227650 CCO LOOM
http://nanbyodata.jp/ontology/NANDO_2200652 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.190.196.080.280 RH-MESH LOOM
rgo:29495 GAMUTS LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000285961 PDQ LOOM
http://id.nlm.nih.gov/mesh/D005199 MDM LOOM
http://purl.obolibrary.org/obo/NCIT_C62505 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62505 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.077.280 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.280 RH-MESH LOOM
http://identifiers.org/omim/227650 REXO LOOM
http://identifiers.org/omim/227650 GEXO LOOM
http://identifiers.org/omim/227650 RETO LOOM
http://doe-generated-ontology.com/OntoAD#C0015625 ONTOAD LOOM