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 thymus (HP:0000777)

Parent Node:
Aplasia/Hypoplasia of the thymus (HP:0010515)

..Starting node
..Hypoplasia of the thymus (HP:0000778)

Term ID:

778

Name:

Hypoplasia of the thymus

Synonym:

Small thymus; Thymic hypoplasia; Thymus hypoplasia

Definition:

Underdevelopment of the thymus.

Comments:

Reference:

HP:0000778

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the thymus (HP:0005359)

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:0000778	HP:0000778	Hypoplasia of the thymus	0	AK2 CL E G H	204	267500	Reticular dysgenesis	267500	C0272167	OMIM	1	161	362	103020
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	AK2 CL E G H	204	267500	Reticular dysgenesis	267500	C0272167	OMIM	1	133	362	103020
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	ARVCF CL E G H	421	567				ORPHA	1	550	728	602269
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	ARVCF CL E G H	421	567				ORPHA	1	544	728	602269
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	11382	795	607585
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	10320	795	607585
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	COMT CL E G H	1312	567				ORPHA	1	579	2228	116790
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	COMT CL E G H	1312	567				ORPHA	1	587	2228	116790
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	DCLRE1C CL E G H	64421	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	594	17642	605988
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	DCLRE1C CL E G H	64421	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	509	17642	605988
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	198	24861	611045
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	159	24861	611045
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	GP1BB CL E G H	2812	567				ORPHA	1	438	4440	138720
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	GP1BB CL E G H	2812	567				ORPHA	1	430	4440	138720
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	HIRA CL E G H	7290	567				ORPHA	1	437	4916	600237
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	HIRA CL E G H	7290	567				ORPHA	1	442	4916	600237
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	IL2RG CL E G H	3561	300400	X-linked severe combined immunodeficiency	300400	C1279481	OMIM	1	403	6010	308380
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	IL2RG CL E G H	3561	300400	X-linked severe combined immunodeficiency	300400	C1279481	OMIM	1	370	6010	308380
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	JMJD1C CL E G H	221037	567				ORPHA	1	899	12313	604503
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	JMJD1C CL E G H	221037	567				ORPHA	1	810	12313	604503
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	NEK9 CL E G H	91754	617022	Lethal congenital contracture syndrome 10	617022	C4310760	OMIM	1	79	18591	609798
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	563	9719	600414
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	406	9719	600414
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RAG1 CL E G H	5896	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	491	9831	179615
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RAG1 CL E G H	5896	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	426	9831	179615
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RAG2 CL E G H	5897	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	325	9832	179616
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RAG2 CL E G H	5897	603554	Histiocytic medullary reticulosis	603554	C1801959	OMIM	1	278	9832	179616
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RORC CL E G H	6097	616622	Immunodeficiency 42	616622	C4225266	OMIM	1	153	10260	602943
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RORC CL E G H	6097	616622	Immunodeficiency 42	616622	C4225266	OMIM	1	122	10260	602943
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RREB1 CL E G H	6239	567				ORPHA	1	172	10449	602209
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	RREB1 CL E G H	6239	567				ORPHA	1	174	10449	602209
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	SEC24C CL E G H	9632	567				ORPHA	1	25	10705	607185
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TBX1 CL E G H	6899	567				ORPHA	1	804	11592	602054
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TBX1 CL E G H	6899	567				ORPHA	1	721	11592	602054
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	UFD1 CL E G H	7353	567				ORPHA	1	407	12520	601754
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	UFD1 CL E G H	7353	567				ORPHA	1	402	12520	601754
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	POLR1C CL E G H	9533	861				ORPHA	0	1131	20194	610060
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	POLR1C CL E G H	9533	861				ORPHA	0	1019	20194	610060
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	POLR1D CL E G H	51082	861				ORPHA	0	82	20422	613715
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	POLR1D CL E G H	51082	861				ORPHA	0	79	20422	613715
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TCOF1 CL E G H	6949	861				ORPHA	0	438	11654	606847
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TCOF1 CL E G H	6949	861				ORPHA	0	387	11654	606847
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	0	444	15979	603273
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TP63 CL E G H	8626	1896	Dominant cleft palate			ORPHA	0	376	15979	603273
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TTC7A CL E G H	57217	436252				ORPHA	0	650	19750	609332
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TTC7A CL E G H	57217	436252				ORPHA	0	545	19750	609332
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	0	650	19750	609332
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	0	545	19750	609332
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	WAS CL E G H	7454	906				ORPHA	0	463	12731	300392
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	WAS CL E G H	7454	906				ORPHA	0	416	12731	300392
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	WIPF1 CL E G H	7456	906				ORPHA	0	194	12736	602357
HP:0000778	HP:0000778	Hypoplasia of the thymus	0	WIPF1 CL E G H	7456	906				ORPHA	0	158	12736	602357

Genes (26) :AK2 ARVCF ATM COMT DCLRE1C G6PC3 GP1BB HIRA IL2RG JMJD1C NEK9 PEX5 POLR1C POLR1D RAG1 RAG2 RORC RREB1 SEC24C TBX1 TCOF1 TP63 TTC7A UFD1 WAS WIPF1

Diseases (14) :267500 567 208900 603554 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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