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Term:
syndromic constitutional thrombocytopenia
(EFO:MONDO:0018795)
Annotations:
Rat: (0)
Mouse: (0)
Human: (0)
Chinchilla: (0)
Bonobo: (0)
Dog: (0)
Squirrel: (0)
Pig: (0)
Naked Mole-rat: (0)
Green Monkey: (0)
Parent Terms
Term With Siblings
Child Terms
inherited thrombocytopenia
+
alpha granule disease
+
autoimmune thrombocytopenic purpura
autosomal dominant macrothrombocytopenia
+
congenital amegakaryocytic thrombocytopenia
+
congenital thrombotic thrombocytopenic purpura
isolated delta-storage pool disease
macrothrombocytopenia, isolated
+
syndromic constitutional thrombocytopenia
+
thrombocytopenia 1
thrombocytopenia 12 with or without myopathy
thrombocytopenia 2
thrombocytopenia 3
thrombocytopenia 4
thrombocytopenia 5
thrombocytopenia 7
thrombocytopenia, X-linked, with or without dyserythropoietic anemia
+
ACTB-associated syndromic thrombocytopenia
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
GNE myopathy
Jacobsen syndrome
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
marcothrombocytopenia with mitral valve insufficiency
platelet storage pool deficiency
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Stormorken syndrome
thrombocytopenia-absent radius syndrome
Synonyms
Alternate IDs:
MONDO:0018795
Xrefs:
GARD:21967
; MEDGEN:1843101 ;
ORDO:477794
; UMLS:C5681257