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 thymusHP: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 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:0003357 Thymic hormone decreased 1 EPG5 CL E G H 57724 242840 Vici syndrome 242840 C1855772 OMIM 1 1640 29331 615068 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:0010517 Ectopic thymus tissue 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:0003357 Thymic hormone decreased 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: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 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: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: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: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: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: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: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: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 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: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 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: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: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
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.
