Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/224100 http://purl.bioontology.org/ontology/OMIM/224100
Preferred Name	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II
Synonyms	CDA, TYPE II HEMPAS DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II CDAN2 HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CDA, TYPE II HEMPAS DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II CDAN2 HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST See more See less
prefLabel	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II
Gene Symbol	HEMPAS SEC23B CDAN2 CWS7
Scope Statement	Variable age at diagnosis [MISCELLANEOUS] Caused by mutation in the SEC23 homolog B, coat complex II component gene (SEC23B, 610512.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU009745 http://purl.bioontology.org/ontology/OMIM/MTHU009747 http://purl.bioontology.org/ontology/OMIM/MTHU026168 http://purl.bioontology.org/ontology/OMIM/MTHU026165 http://purl.bioontology.org/ontology/OMIM/MTHU026164 http://purl.bioontology.org/ontology/OMIM/MTHU026163 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU026166 http://purl.bioontology.org/ontology/OMIM/MTHU026167 http://purl.bioontology.org/ontology/OMIM/MTHU024108 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	20p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	224100
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1306589
OMIM Entry Type	3
OMIM MimType Value	pound

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