Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the endocrine system (HP:0000818)

Grandparent Node:
Abnormality of the lymphatic system (HP:0100763)

Parent Node:
Abnormality of the thymus (HP:0000777)

..Starting node
..Aplasia/Hypoplasia of the thymus (HP:0010515)

Term ID:

10515

Name:

Aplasia/Hypoplasia of the thymus

Synonym:

Absent/small thymus; Absent/underdeveloped thymus; Thymic hypoplasia or aplasia

Definition:

Absence or underdevelopment of the thymus.

Comments:

Reference:

HP:0010515

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the thymus (HP:0000778)

........

Aplasia of the thymus (HP:0005359)

Sister Nodes:

Ectopic thymus tissue (HP:0010517)

Neoplasm of the thymus (HP:0100521)

Thymic hormone decreased (HP:0003357)

Thymus hyperplasia (HP:0010516)

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:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	AK2 CL E G H	204	33355				ORPHA	1	161	362	103020
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	AK2 CL E G H	204	33355				ORPHA	1	133	362	103020
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	253	21732	608041
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	247	21732	608041
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1980	20626	608892
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1752	20626	608892
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	398	10727	608166
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	340	10727	608166
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	AK2 CL E G H	204	33355				ORPHA	1	161	362	103020
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	AK2 CL E G H	204	33355				ORPHA	1	133	362	103020
HP:0010515	HP:0005359	Aplasia of the thymus	1	AK2 CL E G H	204	33355				ORPHA	1	161	362	103020
HP:0010515	HP:0005359	Aplasia of the thymus	1	AK2 CL E G H	204	33355				ORPHA	1	133	362	103020
HP:0010515	HP:0005359	Aplasia of the thymus	1	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	253	21732	608041
HP:0010515	HP:0005359	Aplasia of the thymus	1	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	247	21732	608041
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	253	21732	608041
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	247	21732	608041
HP:0010515	HP:0005359	Aplasia of the thymus	1	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0010515	HP:0005359	Aplasia of the thymus	1	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	ATM CL E G H	472	100				ORPHA	1	11382	795	607585
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	ATM CL E G H	472	100				ORPHA	1	10320	795	607585
HP:0010515	HP:0005359	Aplasia of the thymus	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1980	20626	608892
HP:0010515	HP:0005359	Aplasia of the thymus	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1752	20626	608892
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1980	20626	608892
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1752	20626	608892
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	398	10727	608166
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	340	10727	608166
HP:0010515	HP:0005359	Aplasia of the thymus	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	398	10727	608166
HP:0010515	HP:0005359	Aplasia of the thymus	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	340	10727	608166
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TBX1 CL E G H	6899	1727				ORPHA	0	804	11592	602054
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TBX1 CL E G H	6899	1727				ORPHA	0	721	11592	602054
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TBX1 CL E G H	6899	1727				ORPHA	0	804	11592	602054
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TBX1 CL E G H	6899	1727				ORPHA	0	721	11592	602054
HP:0010515	HP:0005359	Aplasia of the thymus	1	TBX1 CL E G H	6899	1727				ORPHA	0	804	11592	602054
HP:0010515	HP:0005359	Aplasia of the thymus	1	TBX1 CL E G H	6899	1727				ORPHA	0	721	11592	602054

Genes (30) :ADA AK2 ANTXR2 ARVCF ATM CHD7 COMT DCLRE1C G6PC3 GP1BB HIRA IL2RG JMJD1C NEK9 PEX5 POLR1C POLR1D RAG1 RAG2 RORC RREB1 SEC24C SEMA3E TBX1 TCOF1 TP63 TTC7A UFD1 WAS WIPF1

Diseases (21) :33355 2176 100 214800 1727 102700 267500 567 208900 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.

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