Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

alpha-thalassemia myelodysplasia syndrome

Synonyms

alpha-thalassemia-myelodysplastic syndrome

acquired HbH disease

ATMDS

acquired hemoglobin H disease

Definitions

A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1.

ID

http://purl.obolibrary.org/obo/DOID_0112125

database_cross_reference

SNOMEDCT_US_2022_09_01:307343001

OMIM:300448

MESH:C563023

UMLS_CUI:C0585216

ORDO:231401

definition

A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1.

has exact synonym

alpha-thalassemia-myelodysplastic syndrome

acquired HbH disease

ATMDS

acquired hemoglobin H disease

has_obo_namespace

disease_ontology

id

DOID:0112125

in_subset

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

label

alpha-thalassemia myelodysplasia syndrome

notation

DOID:0112125

prefLabel

alpha-thalassemia myelodysplasia syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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http://purl.bioontology.org/ontology/OMIM/300448 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C563023 Medical Subject Headings / 医学主题词表 LOOM