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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
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merge MONDO_0007929 'Epstein syndrome' with MONDO:0007954 May-Hegglin anomaly #396

Closed nicolevasilevsky closed 4 years ago

nicolevasilevsky commented 5 years ago

consider merge MONDO_0007929 'Epstein syndrome' with MONDO:0007954 May-Hegglin anomaly

MONDO_0007929 'Epstein syndrome' def: An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene.

MONDO:0007954 May-Hegglin def: An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene.

nicolevasilevsky commented 4 years ago

From GARD: Both Epstein Anomaly and May-Hegglin anomaly are actually under MYH9-related disorder (which we already have)

ahamosh commented 4 years ago

OMIM has merged all of these as: # 155100. MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

We are not using gene symbols in disease names.