Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the immune system (HP:0002715)help
Parent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
Parent Node:
expand
Abnormality of the lymphatic system (HP:0100763)help
..Starting node
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Abnormality of the thymus (HP:0000777)help
Term ID: 777
Name: Abnormality of the thymus
Synonym: Abnormality of the thymus
Definition: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
Comments:
Reference: HP:0000777
Genes and Diseases:
 
       Child Nodes:
........expandThymic hormone decreased (HP:0003357) help
........expandAplasia/Hypoplasia of the thymus (HP:0010515) help
................... HP:0000778 Hypoplasia of the thymus
................... HP:0005359 Aplasia of the thymus
........expandThymus hyperplasia (HP:0010516) help
........expandEctopic thymus tissue (HP:0010517) help
........expandNeoplasm of the thymus (HP:0100521) help
................... HP:0100522 Thymoma

 Sister Nodes: 
..expandAbnormal lymphatic vessel morphology (HP:0100766) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormality of the lymph nodes (HP:0002733) help
..expandAbnormality of the spleen (HP:0001743) help
..expandAbnormality of the tonsils (HP:0100765) help
..expandLymphangioma (HP:0100764) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000777HP:0000777Abnormality of the thymus0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0000777Abnormality of the thymus0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0000777Abnormality of the thymus0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0000777Abnormality of the thymus0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0000777Abnormality of the thymus0NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0000777Abnormality of the thymus0NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0000777Abnormality of the thymus0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0000777Abnormality of the thymus0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0010517Ectopic thymus tissue1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0010516Thymus hyperplasia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0010516Thymus hyperplasia1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0010517Ectopic thymus tissue1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0100521Neoplasm of the thymus1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0003357Thymic hormone decreased1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0100521Neoplasm of the thymus1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0003357Thymic hormone decreased1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0100521Neoplasm of the thymus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0003357Thymic hormone decreased1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0100521Neoplasm of the thymus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0003357Thymic hormone decreased1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0010517Ectopic thymus tissue1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0010516Thymus hyperplasia1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0010517Ectopic thymus tissue1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0010516Thymus hyperplasia1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0100521Neoplasm of the thymus1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0003357Thymic hormone decreased1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0100521Neoplasm of the thymus1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0003357Thymic hormone decreased1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0010517Ectopic thymus tissue1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0010516Thymus hyperplasia1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0010516Thymus hyperplasia1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0010517Ectopic thymus tissue1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0010517Ectopic thymus tissue1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0010516Thymus hyperplasia1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0010517Ectopic thymus tissue1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0010516Thymus hyperplasia1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0100521Neoplasm of the thymus1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0003357Thymic hormone decreased1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0100521Neoplasm of the thymus1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0003357Thymic hormone decreased1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0100522Thymoma2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0005359Aplasia of the thymus2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0100522Thymoma2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0005359Aplasia of the thymus2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0000778Hypoplasia of the thymus2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000777HP:0000778Hypoplasia of the thymus2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000777HP:0000778Hypoplasia of the thymus2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0000778Hypoplasia of the thymus2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0100522Thymoma2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0005359Aplasia of the thymus2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000777HP:0100522Thymoma2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0005359Aplasia of the thymus2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000777HP:0000778Hypoplasia of the thymus2NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0000778Hypoplasia of the thymus2NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0100522Thymoma2NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0005359Aplasia of the thymus2NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11957677608243
HP:0000777HP:0100522Thymoma2NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0005359Aplasia of the thymus2NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM11577677608243
HP:0000777HP:0100522Thymoma2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0005359Aplasia of the thymus2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0100522Thymoma2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0005359Aplasia of the thymus2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
HP:0000777HP:0000778Hypoplasia of the thymus2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM180411592602054
HP:0000777HP:0000778Hypoplasia of the thymus2TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM172111592602054
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (42) :ADA AK2 AKT1 ANTXR2 ARVCF ATM CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COMT DCLRE1C EPG5 ERCC8 FRAS1 G6PC3 GP1BB HIRA IL2RG JMJD1C MEN1 NEK9 NSMCE3 PEX5 POLR1C POLR1D PTEN RAG1 RAG2 RORC RREB1 SEC24C SEMA3E TBX1 TCOF1 TFAP2A TP63 TTC7A UFD1 WAS WIPF1

Diseases (31) :242840 219000 617241 188400 33355 744 2176 100 214800 216400 2969 1727 113620 102700 267500 567 208900 652 276152 603554 602450 612541 300400 617022 214110 861 616622 1896 436252 243150 906
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.