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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/254450
http://purl.bioontology.org/ontology/OMIM/254450
|
|---|---|
| Preferred Name | MYELOFIBROSIS |
| Synonyms |
MYELOFIBROSIS WITH MYELOID METAPLASIA
MMM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MYELOFIBROSIS WITH MYELOID METAPLASIA
MMM
|
|---|---|
| prefLabel |
MYELOFIBROSIS
|
| Gene Symbol |
LNK
SH2B3
|
| notation |
254450
|
| Scope Statement |
Susceptibility conferred by somatic mutation in the calreticulin gene (CALR, 109091.0001) [MOLECULAR BASIS]
Onset first weeks of life [MISCELLANEOUS]
Susceptibility conferred by somatic mutation in the Janus kinase 2 gene (JAK2, 147796.0001) [MOLECULAR BASIS]
Susceptibility conferred by somatic mutation in the MPL protooncogene, thrombopoietin gene (MPL, 159530.0011) [MOLECULAR BASIS]
Susceptibility conferred by somatic mutation in the SH2B adaptor protein 3 (SH2B3, 605093.0001) [MOLECULAR BASIS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
12q24
|
| tui |
T191
|
| cui |
C0026987
|
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