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loading...| Preferred Name |
DIAMOND-BLACKFAN ANEMIA 16 |
| Synonyms |
DBA16 |
| ID |
http://purl.bioontology.org/ontology/OMIM/617408 |
| altLabel |
DBA16 |
| cui |
C4479424 |
| Gene Locus |
17q21.1-q21.2 |
| Gene Symbol |
DBA16 RPL27 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002606 http://purl.bioontology.org/ontology/OMIM/MTHU036339 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
617408 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
DIAMOND-BLACKFAN ANEMIA 16 |
| Scope Statement |
Based on report of 1 patient (last curated March 2017) [MISCELLANEOUS] Diagnosed at birth [MISCELLANEOUS] Caused by mutation in the ribosomal protein L27 gene (RPL27, 607526.0001) [MOLECULAR BASIS] |
| tui |
T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0111893 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0044309 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |