Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

inherited aplastic anemia
Synonyms

rare constitutional aplastic anaemia

rare constitutional aplastic anemia

congenital hypoplastic anaemia

hypoplastic anaemia - familial

congenital aplastic anaemia

hypoplastic anemia - familial

congenital aplastic anemia

congenital hypoplastic anemia

hereditary aplastic anaemia

constitutional aplastic anemia

constitutional aplastic anaemia

hereditary aplastic anemia

Definitions

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.

ID

http://purl.obolibrary.org/obo/MONDO_0001713

database_cross_reference

UMLS:C5681331

MEDGEN:1826154

SCTID:28975000

MESH:D029502

ICD10CM:D61.0

NANDO:2201275

NANDO:1200302

Orphanet:68383

ICD9:284.09

DOID:1342

GARD:18889

ICD9:284.0

definition

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.

exactMatch

http://purl.obolibrary.org/obo/DOID_1342

http://identifiers.org/mesh/D029502

http://purl.bioontology.org/ontology/ICD10CM/D61.0

http://linkedlifedata.com/resource/umls/id/C5681331

http://identifiers.org/snomedct/28975000

http://purl.obolibrary.org/obo/Orphanet_68383

http://identifiers.org/medgen/1826154

has_exact_synonym

hereditary aplastic anaemia

constitutional aplastic anemia

constitutional aplastic anaemia

hereditary aplastic anemia

has_narrow_synonym

rare constitutional aplastic anaemia

rare constitutional aplastic anemia

has_related_synonym

congenital hypoplastic anaemia

hypoplastic anaemia - familial

congenital aplastic anaemia

hypoplastic anemia - familial

congenital aplastic anemia

congenital hypoplastic anemia

id

MONDO:0001713

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

inherited aplastic anemia

notation

MONDO:0001713

preferred label

inherited aplastic anemia

prefLabel

inherited aplastic anemia

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://purl.obolibrary.org/obo/MONDO_0015909

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0012197

Delete Subject Author Type Created
No notes to display