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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome		94
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus		3
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome		127
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome		50
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	RORC CL E G H	6097	10260	OMIM:616622	Immunodeficiency 42		5
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome		140
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0010515	HP:0010515	Aplasia/Hypoplasia of the thymus	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0010515	HP:0005359	Aplasia of the thymus	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	AK2 CL E G H	204	362	OMIM:267500	Reticular dysgenesia		19
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	1
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	6
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0010515	HP:0005359	Aplasia of the thymus	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	8
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	3
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.	48
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	2
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	11
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	RORC CL E G H	6097	10260	OMIM:616622	Immunodeficiency 42	.	5
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent	32
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	26
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional	26
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0010515	HP:0000778	Hypoplasia of the thymus	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6

Genes (38) :ADA AK2 ANTXR2 ARVCF ATM CHD7 COMT DCLRE1C G6PC3 GP1BB HIRA IL2RG JMJD1C MCM10 NEK9 NKX2-6 NSMCE3 PEX5 PI4KA PLXND1 POLR1B POLR1C POLR1D POLR3A RAG1 RAG2 RORC RREB1 SEC24C SKIC2 SKIC3 TBX1 TCOF1 TP63 TTC7A UFD1 WAS WIPF1

Diseases (27) :OMIM:102700 OMIM:267500 ORPHA:33355 ORPHA:2176 ORPHA:567 OMIM:208900 ORPHA:100 OMIM:214800 OMIM:603554 OMIM:602450 OMIM:612541 OMIM:300400 OMIM:619313 OMIM:617022 ORPHA:3384 OMIM:617241 OMIM:214110 ORPHA:436252 ORPHA:861 OMIM:264090 OMIM:616622 ORPHA:84064 ORPHA:1727 OMIM:188400 ORPHA:1896 OMIM:243150 ORPHA:906

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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