Disease association ontology term - MONDO:0018795 - syndromic constitutional thrombocytopenia
Term summary
ID
MONDO:0018795
Name
syndromic constitutional thrombocytopenia
Ontology or CV name
Disease association
Parents
is_a
inherited thrombocytopenia
Annotation
Disease association
MONDO:0015912
-
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
References:
PB_REF:0000006
Genes:
myo2 (SPCC645.05c)
myp2 (SPAC4A8.05c)
MONDO:0014757
-
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
References:
PB_REF:0000006
Genes:
cdc42 (SPAC110.03)
MONDO:0010121
-
thrombocytopenia-absent radius syndrome
References:
PB_REF:0000006
Genes:
rbm8 (SPAC23A1.09)
