loading...| Preferred Name |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia |
| Synonyms |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I |
| ID |
http://purl.bioontology.org/ontology/OMIM/224120 |
| altLabel |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I CDAN1A DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia CDA, TYPE Ia |
| cui |
C5574667 C0271933 |
| Gene Locus |
15q15 |
| Gene Symbol |
CDA1 CDAN1 CDAN1A |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU041868 http://purl.bioontology.org/ontology/OMIM/MTHU037816 http://purl.bioontology.org/ontology/OMIM/MTHU006441 http://purl.bioontology.org/ontology/OMIM/MTHU041871 http://purl.bioontology.org/ontology/OMIM/MTHU009065 http://purl.bioontology.org/ontology/OMIM/MTHU022196 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU041869 http://purl.bioontology.org/ontology/OMIM/MTHU041867 http://purl.bioontology.org/ontology/OMIM/MTHU037815 http://purl.bioontology.org/ontology/OMIM/MTHU038101 http://purl.bioontology.org/ontology/OMIM/MTHU009747 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
224120 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia |
| Scope Statement |
Anemia may show favorable response to alpha-interferon treatment [MISCELLANEOUS] Caused by mutation in the codanin 1 gene (CDAN1, 607465.0001) [MOLECULAR BASIS] Variable age at diagnosis [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D000742 | Medical Subject Headings / 医学主题词表 | CUI |