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loading...| Preferred Name |
Thrombocytopenia 1 |
| Synonyms |
Thrombocytopenia, X-Linked, 1 |
| ID |
http://purl.bioontology.org/ontology/MESH/C564052 |
| altLabel |
Thrombocytopenia, X-Linked, 1 Thrombocytopenia, X-Linked X-Linked Thrombocytopenia |
| cui |
C1839163 |
| HM |
D040181 D013921 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
20 |
| MMR |
20160929 |
| notation |
C564052 |
| prefLabel |
Thrombocytopenia 1 |
| SC |
3 |
| Scope Statement |
Hereditary, X-linked thrombocytopenia caused by mutations in the WISKOTT-ALDRICH SYNDROME PROTEIN (WAS) gene. OMIM: 313900 |
| TERMUI |
T804133 T842782 T804135 T804134 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |
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