Terminology Service for NFDI4Health
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alpha-thalassemia-related diseases

Go to external page http://purl.obolibrary.org/obo/MONDO_0016513

This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).* [ ]

Term info

Label

alpha-thalassemia-related diseases

database cross reference
Subsets

disease_grouping, obsoletion_candidate, ordo_group_of_disorders

IAO 0006012

2022-09-01

comment

Reason: out of scope. MONDO:excludeGroupingClass. Term to consider:MONDO:0011399 alpha thalassemia

exactMatch

http://linkedlifedata.com/resource/umls/id/CN201534, http://purl.obolibrary.org/obo/Orphanet_232288

id

MONDO:0016513

see also

https://github.com/monarch-initiative/mondo/issues/5114