Terminology Service for NFDI4Health
Congenital Amegakaryocytic Thrombocytopenia
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http://purl.obolibrary.org/obo/NCIT_C115207
A rare, autosomal recessive inherited disorder caused by mutation in the c-Mpl gene. It is characterized by thrombocytopenia and absence of megakaryocytes. It presents with bleeding in the first month of life. [ ]
Term info
Label
Congenital Amegakaryocytic Thrombocytopenia
Synonyms
- Congenital Amegakaryocytic Thrombocytopenia
Subsets
NCIT_C118168, NCIT_C116977
Contributing Source
CTRP
Display Name
Congenital Amegakaryocytic Thrombocytopenia
Preferred Name
Congenital Amegakaryocytic Thrombocytopenia
Semantic Type
Disease or Syndrome
UMLS CUI
C1327915
code
C115207