Disease association ontology term - MONDO:0100241 - inherited thrombocytopenia
Term summary
ID
MONDO:0100241
Name
inherited thrombocytopenia
Ontology or CV name
Disease association
Definition
An instance of thrombocytopenia that is inherited.
Parents
is_a
thrombocytopenia
is_a
hereditary disease
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:0800047
-
macrothrombocytopenia, isolated, 1, autosomal dominant
References:
PB_REF:0000006
Genes:
nda3 (SPBC26H8.07c)
MONDO:0030827
-
macrothrombocytopenia, isolated, 2, autosomal dominant
References:
PB_REF:0000006
Genes:
atb2 (SPBC800.05c)
nda2 (SPBC16A3.15c)
MONDO:0014757
-
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
References:
PB_REF:0000006
Genes:
cdc42 (SPAC110.03)
MONDO:0014078
-
platelet-type bleeding disorder 15
References:
PB_REF:0000006
Genes:
ain1 (SPAC15A10.08)
MONDO:0010743
-
thrombocytopenia 1
References:
PB_REF:0000006
Genes:
wsp1 (SPAC4F10.15c)
MONDO:0958333
-
thrombocytopenia 13, syndromic
References:
PB_REF:0000006
Genes:
gal10 (SPBPB2B2.12c)
uge1 (SPBC365.14c)
MONDO:0012775
-
thrombocytopenia 4
References:
PB_REF:0000006
Genes:
cyc1 (SPCC191.07)
MONDO:0010121
-
thrombocytopenia-absent radius syndrome
References:
PB_REF:0000006
Genes:
rbm8 (SPAC23A1.09)
