Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	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	1033	29331	615068
HP:0000777	HP:0000777	Abnormality of the thymus	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000777	HP:0000777	Abnormality of the thymus	0	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	19185	607830
HP:0000777	HP:0000777	Abnormality of the thymus	0	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	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	195	7677	608243
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	157	7677	608243
HP:0000777	HP:0000777	Abnormality of the thymus	0	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	11592	602054
HP:0000777	HP:0000777	Abnormality of the thymus	0	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	11592	602054
HP:0000777	HP:0010516	Thymus hyperplasia	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0000777	HP:0010517	Ectopic thymus tissue	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0000777	HP:0010516	Thymus hyperplasia	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000777	HP:0010517	Ectopic thymus tissue	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000777	HP:0100521	Neoplasm of the thymus	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0000777	HP:0003357	Thymic hormone decreased	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	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	1033	29331	615068
HP:0000777	HP:0003357	Thymic hormone decreased	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	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	801	29331	615068
HP:0000777	HP:0100521	Neoplasm of the thymus	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000777	HP:0100521	Neoplasm of the thymus	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	19185	607830
HP:0000777	HP:0003357	Thymic hormone decreased	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	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	822	19185	607830
HP:0000777	HP:0003357	Thymic hormone decreased	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	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	737	19185	607830
HP:0000777	HP:0100521	Neoplasm of the thymus	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	19185	607830
HP:0000777	HP:0010516	Thymus hyperplasia	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	19185	607830
HP:0000777	HP:0010517	Ectopic thymus tissue	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	19185	607830
HP:0000777	HP:0010516	Thymus hyperplasia	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	19185	607830
HP:0000777	HP:0010517	Ectopic thymus tissue	1	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	19185	607830
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	195	7677	608243
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	195	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	195	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	157	7677	608243
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	157	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	157	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	195	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	195	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	157	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	157	7677	608243
HP:0000777	HP:0010516	Thymus hyperplasia	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	11592	602054
HP:0000777	HP:0010517	Ectopic thymus tissue	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	11592	602054
HP:0000777	HP:0010516	Thymus hyperplasia	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	11592	602054
HP:0000777	HP:0010517	Ectopic thymus tissue	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	11592	602054
HP:0000777	HP:0100521	Neoplasm of the thymus	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	11592	602054
HP:0000777	HP:0003357	Thymic hormone decreased	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	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	804	11592	602054
HP:0000777	HP:0100521	Neoplasm of the thymus	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	11592	602054
HP:0000777	HP:0003357	Thymic hormone decreased	1	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	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	721	11592	602054
HP:0000777	HP:0100522	Thymoma	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0000777	HP:0005359	Aplasia of the thymus	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0000777	HP:0100522	Thymoma	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000777	HP:0005359	Aplasia of the thymus	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000777	HP:0000778	Hypoplasia of the thymus	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0000777	HP:0000778	Hypoplasia of the thymus	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000777	HP:0000778	Hypoplasia of the thymus	2	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	19185	607830
HP:0000777	HP:0000778	Hypoplasia of the thymus	2	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	19185	607830
HP:0000777	HP:0100522	Thymoma	2	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	19185	607830
HP:0000777	HP:0005359	Aplasia of the thymus	2	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	19185	607830
HP:0000777	HP:0100522	Thymoma	2	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	19185	607830
HP:0000777	HP:0005359	Aplasia of the thymus	2	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	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	195	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	157	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	195	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	195	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	157	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	157	7677	608243
HP:0000777	HP:0100522	Thymoma	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	11592	602054
HP:0000777	HP:0005359	Aplasia of the thymus	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	11592	602054
HP:0000777	HP:0100522	Thymoma	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	11592	602054
HP:0000777	HP:0005359	Aplasia of the thymus	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	11592	602054
HP:0000777	HP:0000778	Hypoplasia of the thymus	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	804	11592	602054
HP:0000777	HP:0000778	Hypoplasia of the thymus	2	TBX1 CL E G H	6899	188400	DiGeorge sequence	188400	C0012236	OMIM	1	721	11592	602054
HPO disease - gene - phenotype less frequent non-typical associations: