congenital amegakaryocytic thrombocytopenia
(Q5160405)
thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has material basis in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34
thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has material basis in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34
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Current Data About
congenital amegakaryocytic thrombocytopenia
| (P31) |
(Q929833)
(Q112193867) |
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| (P279) |
(Q585285)
(Q55788347)
(Q200779)
(Q10267817)
(Q727096)
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| (P1748) |
C115207
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| (P1995) |
(Q103824)
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| (P2293) |
(Q18029261)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0090118
http://identifiers.org/doid/DOID:0090118
http://www.orpha.net/ORDO/Orphanet_3319 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
congenital amegakaryocytic thrombocytopenic purpura CAMT AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL Thrombocytopenia congenital amegakaryocytic |
| description | thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has material basis in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34 |
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