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: ........Thymic hormone decreased (HP:0003357) ........Aplasia/Hypoplasia of the thymus (HP:0010515) ................... HP:0000778 Hypoplasia of the thymus ................... HP:0005359 Aplasia of the thymus ........Thymus hyperplasia (HP:0010516) ........Ectopic thymus tissue (HP:0010517) ........Neoplasm of the thymus (HP:0100521) ................... HP:0100522 Thymoma Sister Nodes: ..Abnormal lymphatic vessel morphology (HP:0100766) ..Abnormal pulmonary lymphatics (HP:0006529) ..Abnormality of the lymph nodes (HP:0002733) ..Abnormality of the spleen (HP:0001743) ..Abnormality of the tonsils (HP:0100765) ..Lymphangioma (HP:0100764) Input HPO ID HPO term Distance Gene Gene id entrez DiseaseId DiseaseName DiseaseMIM ConceptID Source Typical association HGMD variants ClinVar variants HGNC ID GeneMIM HPO disease - gene - phenotype typical associations: HP:0000777 HP:0000777 Abnormality of the thymus 0 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0000777 Abnormality of the thymus 0 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0000777 Abnormality of the thymus 0 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0000777 Abnormality of the thymus 0 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0010515 Aplasia/Hypoplasia of the thymus 1 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0100521 Neoplasm of the thymus 1 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0010517 Ectopic thymus tissue 1 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0010516 Thymus hyperplasia 1 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0003357 Thymic hormone decreased 1 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0003357 Thymic hormone decreased 1 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0100521 Neoplasm of the thymus 1 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0010515 Aplasia/Hypoplasia of the thymus 1 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0010516 Thymus hyperplasia 1 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0010517 Ectopic thymus tissue 1 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0010515 Aplasia/Hypoplasia of the thymus 1 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0100521 Neoplasm of the thymus 1 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0010516 Thymus hyperplasia 1 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0010517 Ectopic thymus tissue 1 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0003357 Thymic hormone decreased 1 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0010517 Ectopic thymus tissue 1 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0010516 Thymus hyperplasia 1 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0003357 Thymic hormone decreased 1 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0010515 Aplasia/Hypoplasia of the thymus 1 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0100521 Neoplasm of the thymus 1 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0005359 Aplasia of the thymus 2 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0100522 Thymoma 2 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0000778 Hypoplasia of the thymus 2 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 HP:0000777 HP:0000778 Hypoplasia of the thymus 2 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0100522 Thymoma 2 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0005359 Aplasia of the thymus 2 FRAS1 CL E G H 80144 219000 Cryptophthalmos syndrome 219000 C0265233 OMIM 1 1287 19185 607830 HP:0000777 HP:0000778 Hypoplasia of the thymus 2 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0100522 Thymoma 2 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0005359 Aplasia of the thymus 2 NSMCE3 CL E G H 56160 617241 Lung disease, immunodeficiency, and chromosome breakage syndrome 617241 C4310653 OMIM 1 272 7677 608243 HP:0000777 HP:0000778 Hypoplasia of the thymus 2 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0005359 Aplasia of the thymus 2 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 HP:0000777 HP:0100522 Thymoma 2 TBX1 CL E G H 6899 188400 DiGeorge sequence 188400 C0012236 OMIM 1 1169 11592 602054 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.