Human Phenotype Ontology 
Grandparent Node:
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Abnormal platelet count (HP:0011873)help
Parent Node:
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Autoimmunity (HP:0002960)help
Parent Node:
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Thrombocytopenia (HP:0001873)help
..Starting node
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Autoimmune thrombocytopenia (HP:0001973)help
Term ID: 1973
Name: Autoimmune thrombocytopenia
Synonym: Idiopathic thrombocytopenia; Idiopathic thrombocytopenic purpura; Immune thrombocytopenia
Definition: The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Comments:
Reference: HP:0001973
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAmegakaryocytic thrombocytopenia (HP:0004859) help
..expandCongenital thrombocytopenia (HP:0001905) help
..expandHeparin-induced thrombocytopenia (HP:0011874) help
..expandIntermittent thrombocytopenia (HP:0004854) help
..expandMacrothrombocytopenia (HP:0040185) help
..expandNeonatal alloimmune thrombocytopenia (HP:0004809) help
..expandPost-transfusion thrombocytopenia (HP:0004813) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001973HP:0001973Autoimmune thrombocytopenia0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM128103124171640
HP:0001973HP:0001973Autoimmune thrombocytopenia0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0001973HP:0001973Autoimmune thrombocytopenia0CASP10 CL E G H843603909Autoimmune lymphoproliferative syndrome, type 2A603909C1858968OMIM192361500601762
HP:0001973HP:0001973Autoimmune thrombocytopenia0CD19 CL E G H9301572ORPHA1101961633107265
HP:0001973HP:0001973Autoimmune thrombocytopenia0CD81 CL E G H9751572ORPHA12491701186845
HP:0001973HP:0001973Autoimmune thrombocytopenia0CR2 CL E G H13801572ORPHA1192332336120650
HP:0001973HP:0001973Autoimmune thrombocytopenia0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0001973HP:0001973Autoimmune thrombocytopenia0FAS CL E G H355601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM114216911920134637
HP:0001973HP:0001973Autoimmune thrombocytopenia0FASLG CL E G H356601859Autoimmune lymphoproliferative syndrome601859C1328840OMIM1119811936134638
HP:0001973HP:0001973Autoimmune thrombocytopenia0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12514624115606890
HP:0001973HP:0001973Autoimmune thrombocytopenia0ICOS CL E G H298511572ORPHA161085351604558
HP:0001973HP:0001973Autoimmune thrombocytopenia0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0001973HP:0001973Autoimmune thrombocytopenia0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0001973HP:0001973Autoimmune thrombocytopenia0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1452746407190070
HP:0001973HP:0001973Autoimmune thrombocytopenia0MS4A1 CL E G H9311572ORPHA12147315112210
HP:0001973HP:0001973Autoimmune thrombocytopenia0NFKB1 CL E G H47901572ORPHA136977794164011
HP:0001973HP:0001973Autoimmune thrombocytopenia0NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0001973HP:0001973Autoimmune thrombocytopenia0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1141817989164790
HP:0001973HP:0001973Autoimmune thrombocytopenia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341397892164050
HP:0001973HP:0001973Autoimmune thrombocytopenia0PRKCD CL E G H55801572ORPHA161449399176977
HP:0001973HP:0001973Autoimmune thrombocytopenia0PRKCD CL E G H5580615559Autoimmune lymphoproliferative syndrome, type III615559C3809928OMIM161449399176977
HP:0001973HP:0001973Autoimmune thrombocytopenia0STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM115529111364102582
HP:0001973HP:0001973Autoimmune thrombocytopenia0TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0001973HP:0001973Autoimmune thrombocytopenia0TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0001973HP:0001973Autoimmune thrombocytopenia0TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0001973HP:0001973Autoimmune thrombocytopenia0TPP2 CL E G H7174444463ORPHA1419712016190470
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001973HP:0001973Autoimmune thrombocytopenia0NFKB2 CL E G H4791293978ORPHA0111657795164012
HP:0001973HP:0001973Autoimmune thrombocytopenia0STAT1 CL E G H6772391487ORPHA013024911362600555


Genes (26) :ACP5 ADA CASP10 CD19 CD81 CR2 CTLA4 FAS FASLG GALC ICOS KDM6A KMT2D KRAS MS4A1 NFKB1 NFKB2 NRAS PNP PRKCD STAT1 STAT3 TNFRSF13B TNFRSF13C TNFSF12 TPP2

Diseases (15) :607944 102700 603909 1572 616100 601859 245200 147920 614470 293978 613179 615559 391487 615952 444463
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.