Human Disease Ontology

Last uploaded: February 28, 2024
Preferred Name

congenital dyserythropoietic anemia

Synonyms

congenital dyshaematopoietic anaemia

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.

ID

http://purl.obolibrary.org/obo/DOID_1338

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2023_03_01:191272005

UMLS_CUI:C0002876

MESH:D000742

OMIM:PS224120

ICD10CM:D64.4

GARD:1999

NCI:C84646

ORDO:85

definition

A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.

disease has basis in

http://purl.obolibrary.org/obo/HP_0001197

has exact synonym

congenital dyshaematopoietic anaemia

has_obo_namespace

disease_ontology

id

DOID:1338

in_subset

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

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

label

congenital dyserythropoietic anemia

notation

DOID:1338

prefLabel

congenital dyserythropoietic anemia

subClassOf

http://purl.obolibrary.org/obo/DOID_589

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1338 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1338 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1338 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1338 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1338 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_1338 FNS-H SAME_URI
http://purl.bioontology.org/ontology/ICD10CM/D64.4 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3565 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_1338 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1338 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1338 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1338 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1338 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_1338 FNS-H LOOM
http://www.gamuts.net/entity#congenital_dyserythropoietic_anemia GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002876 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84646 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_85 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/52951008 SNOMEDCT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1338 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1122 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU074604 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Congenital_Dyserythropoietic_Anemia CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0019403 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019403 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019403 DOVES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081467 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84646 NCIT LOOM