has material basis in germline mutation in SRC thrombocytopenia 6 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/thrombocytopenia_6 thrombocytopenia 6 Orphanet:480851 MONDO:0014837 hereditary thrombocytopenia with early-onset myelofibrosis MEDGEN:934756 SRC-related thrombocytopenia A syndromic constitutional thrombocytopenia caused by a variation in the SRC gene, characterized by congenital thrombocytopenia, small platelets, and an increased bleeding tendency beginning in infancy or childhood. Affected individuals show impaired megakaryocyte maturation, reduced proplatelet formation, and altered cytoskeletal organization in patient-derived megakaryocytes, consistent with dysregulated SRC kinase signaling. Platelet function studies show variable but generally mild platelet defects, with bleeding phenotypes ranging from easy bruising to mucocutaneous bleeding. OMIM:616937 GARD:0017870 THC6 UMLS:C4310789 syndromic constitutional thrombocytopenia myeloproliferative neoplasm hereditary disorder of connective tissue inherited thrombocytopenia