loading...| Preferred Name |
MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 |
| Synonyms |
MONOSOMY 7 OF BONE MARROW |
| ID |
http://purl.bioontology.org/ontology/OMIM/252270 |
| altLabel |
MONOSOMY 7 OF BONE MARROW CHROMOSOME 7q DELETION M7MLS1 MLSM7 |
| cui |
C1854978 |
| Gene Locus |
7q21.2 |
| Gene Symbol |
M7MLS1 SAMD9L SCA49 ATXPC |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU071518 http://purl.bioontology.org/ontology/OMIM/MTHU001686 http://purl.bioontology.org/ontology/OMIM/MTHU002606 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU010293 http://purl.bioontology.org/ontology/OMIM/MTHU071413 http://purl.bioontology.org/ontology/OMIM/MTHU024110 http://purl.bioontology.org/ontology/OMIM/MTHU071519 http://purl.bioontology.org/ontology/OMIM/MTHU059960 http://purl.bioontology.org/ontology/OMIM/MTHU071517 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU000068 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
162820 |
| notation |
252270 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 1 |
| Scope Statement |
Highly variable phenotype and severity [MISCELLANEOUS] Caused by mutation in the sterile alpha motif domain-containing protein 9-like gene (SAMD9L, 611170.0001) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS] Onset usually in early childhood [MISCELLANEOUS] |
| tui |
T047 |