loading...| Preferred Name |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II |
| Synonyms |
HEMPAS |
| ID |
http://purl.bioontology.org/ontology/OMIM/224100 |
| altLabel |
HEMPAS HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST CDAN2 DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II CDA, TYPE II |
| cui |
C1306589 |
| Gene Locus |
20p11.2 |
| Gene Symbol |
SEC23B HEMPAS CDAN2 CWS7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU002606 http://purl.bioontology.org/ontology/OMIM/MTHU024108 http://purl.bioontology.org/ontology/OMIM/MTHU026167 http://purl.bioontology.org/ontology/OMIM/MTHU026165 http://purl.bioontology.org/ontology/OMIM/MTHU026163 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU009747 http://purl.bioontology.org/ontology/OMIM/MTHU026168 http://purl.bioontology.org/ontology/OMIM/MTHU009745 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
224100 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II |
| 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] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D000742 | Medical Subject Headings / 医学主题词表 | CUI |