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Anemia, Dyserythropoietic, Congenital

Go to external page http://purl.bioontology.org/ontology/MESH/D000742

A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.

Instance info

Synonyms

Anemia With Multinucleated Erythroblasts, HEMPAS Anemias, Congenital Dyserythropoietic Anemias, Anämie, kongenitale dyserythropoetische, Typ II (DE), Kongenitale dyserythropoetische Anämie (DE), Hereditary Erythroblast Multinuclearity with Positive Acidified Serum, Dyserythropoietic Anemia, Congenital, Type III, Dyserythropoietic Anemias, Congenital, HEMPAS (DE), HEMPAS Anemia, Dyserythropoietic Anemia, Congenital, Congenital Dyserythropoietic Anemia Type II, Anämie, dyserythropoetische, kongenitale, Typ II (DE), Anemia, Congenital Dyserythropoietic, Anemia, Congenital Dyserythropoietic, Type II, Anemia, Dyserythropoietic, Congenital, Type III, Dyserythropoietic Anemia, HEMPAS Type, Type I Congenital Dyserythropoietic Anemia, Anemia, Dyserythropoietic Congenital, Type III, Anämie, dyserythropoetische, kongenitale, Typ III (DE), Anemia, Dyserythropoietic, Congenital, Type I, Anämie, kongenitale dyserythropoetische (DE), Anämie, dyserythropoetische, kongenitale, Typ I (DE), HEMPAS, Congenital Dyserythropoietic Anemia Type 1, Dyserythropoetische Anämie, kongenitale (DE), Congenital Dyserythropoietic Anemia, Kongenitale dyserythropoetische Anämie, Typ III (DE), Anemia, Dyserythropoietic Congenital, Type II, Dyserythropoietic Anemia, Congenital Type 2, Dyserythropoietic Anemia, Congenital, Type I, Dyserythropoietic Anemia, Congenital Type 1, Anemia, Dyserythropoietic, Congenital, Type II, Anemia, Dyserythropoietic, Congenital Type 2, Erbliche Erythroblasten-Vielkernigkeit mit positivem Säureserumtest (DE), Anemia, Dyserythropoietic, Congenital Type 1, Kongenitale dyserythropoetische Anämie, Typ I (DE), Anemias, Congenital Dyserythropoietic, Anämie, dyserythropoetische, kongenitale (DE), Congenital Dyserythropoietic Anemia, Type III, Dyserythropoietic Anemia, Congenital, Type II, Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test, Anemia, Dyserythropoietic Congenital, Type I, Congenital Dyserythropoietic Anemia, Type I, Kongenitale dyserythropoetische Anämie, Typ II (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19910101

HN

1991(1980); use ANEMIA, HEMOLYTIC, CONGENITAL 1980-1990

MDA

19790423

MMR

20130708

MN

C15.378.071.141.150.095,C16.320.070.095

PM

1991; see ANEMIA, HEMOLYTIC, CONGENITAL 1980-1990

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D013103,http://purl.bioontology.org/ontology/MESH/D004612,http://purl.bioontology.org/ontology/MESH/D006445,http://purl.bioontology.org/ontology/MESH/D000746,http://purl.bioontology.org/ontology/MESH/D000755,http://purl.bioontology.org/ontology/MESH/D013789,http://purl.bioontology.org/ontology/MESH/D005955

TERMUI

T823029,T823028,T812276,T637832,T637831,T812279,T812275,T751732,T751731,T751730,T781717,T002217,T002216,T637830,T002215,T002214,T002213,T751738,T002212,T751737,T751736,T751735,T637829,T637828,T637827,T637826,T751729,T823031,T823030

TH

NLM (1991),NLM (1980),GHR (2014),NLM (2006),ORD (2010),OMIM (2013),NLM (2010),UNK (19XX),NLM (2012)

cui

C0271933,C0271934,C0002876,C1306589

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C537839,http://purl.bioontology.org/ontology/MESH/C566285,http://purl.bioontology.org/ontology/MESH/C567195,http://purl.bioontology.org/ontology/MESH/C564525

tui

T047

Instance relations

Types