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loading...| Preferred Name |
DIAMOND-BLACKFAN ANEMIA 9 |
| Synonyms |
DBA9 |
| ID |
http://purl.bioontology.org/ontology/OMIM/613308 |
| altLabel |
DBA9 |
| cui |
C2750081 |
| Gene Locus |
6p |
| Gene Symbol |
DBA9 RPS10 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002606 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU054727 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
613308 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
DIAMOND-BLACKFAN ANEMIA 9 |
| Scope Statement |
Caused by mutation in ribosomal protein S10 (RPS10, 603632.0001) [MOLECULAR BASIS] Age at diagnosis ranged from birth to 12 years [MISCELLANEOUS] Limited clinical information provided [MISCELLANEOUS] Some patients are steroid responsive [MISCELLANEOUS] |
| tui |
T047 |
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