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 immune system physiology (HP:0010978)

Parent Node:
Immunodeficiency (HP:0002721)

..Starting node
..Cellular immunodeficiency (HP:0005374)

Term ID:

5374

Name:

Cellular immunodeficiency

Synonym:

Definition:

An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.

Comments:

Reference:

HP:0005374

Genes and Diseases:

Child Nodes:

........

Severe T-cell immunodeficiency (HP:0005352)

Sister Nodes:

Combined immunodeficiency (HP:0005387)

Humoral immunodeficiency (HP:0005363)

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:0005374	HP:0005374	Cellular immunodeficiency	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0005374	HP:0005374	Cellular immunodeficiency	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0005374	HP:0005374	Cellular immunodeficiency	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	54
HP:0005374	HP:0005374	Cellular immunodeficiency	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0005374	HP:0005374	Cellular immunodeficiency	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	4
HP:0005374	HP:0005374	Cellular immunodeficiency	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0005374	HP:0005374	Cellular immunodeficiency	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0005374	HP:0005374	Cellular immunodeficiency	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0005374	HP:0005374	Cellular immunodeficiency	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0005374	HP:0005374	Cellular immunodeficiency	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	79
HP:0005374	HP:0005374	Cellular immunodeficiency	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0005374	HP:0005374	Cellular immunodeficiency	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent	40
HP:0005374	HP:0005374	Cellular immunodeficiency	0	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY		54
HP:0005374	HP:0005374	Cellular immunodeficiency	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0005374	HP:0005374	Cellular immunodeficiency	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	6
HP:0005374	HP:0005374	Cellular immunodeficiency	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0005374	HP:0005374	Cellular immunodeficiency	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0005374	HP:0005374	Cellular immunodeficiency	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0005374	HP:0005374	Cellular immunodeficiency	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0005374	HP:0005374	Cellular immunodeficiency	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0005374	HP:0005374	Cellular immunodeficiency	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	162
HP:0005374	HP:0005374	Cellular immunodeficiency	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	948
HP:0005374	HP:0005374	Cellular immunodeficiency	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0005374	HP:0005374	Cellular immunodeficiency	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0005374	HP:0005374	Cellular immunodeficiency	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	237
HP:0005374	HP:0005374	Cellular immunodeficiency	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	147
HP:0005374	HP:0005374	Cellular immunodeficiency	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	129
HP:0005374	HP:0005374	Cellular immunodeficiency	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	60
HP:0005374	HP:0005374	Cellular immunodeficiency	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0005374	HP:0005374	Cellular immunodeficiency	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0005374	HP:0005374	Cellular immunodeficiency	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0005374	HP:0005374	Cellular immunodeficiency	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0005374	HP:0005374	Cellular immunodeficiency	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0005374	HP:0005374	Cellular immunodeficiency	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0005374	HP:0005374	Cellular immunodeficiency	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0005374	HP:0005374	Cellular immunodeficiency	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional	1
HP:0005374	HP:0005374	Cellular immunodeficiency	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0005374	HP:0005374	Cellular immunodeficiency	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent	9
HP:0005374	HP:0005352	Severe T-cell immunodeficiency	1	FOXN1 CL E G H	8456	12765	OMIM:601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	.	54
HP:0005374	HP:0005352	Severe T-cell immunodeficiency	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0005374	HP:0005352	Severe T-cell immunodeficiency	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74

Genes (37) :ACP5 AK2 AKT1 ATM CDCA7 CREBBP CTC1 DKC1 DNMT3B EP300 EPG5 FOXN1 FRAS1 HELLS KLLN NHP2 NOP10 NPM1 PARN PIK3CA PTEN RMRP RTEL1 SDHB SDHC SDHD SEC23B SMARCAL1 TBCE TERC TERT TINF2 TYMS USB1 USF3 WRAP53 ZBTB24

Diseases (15) :OMIM:607944 ORPHA:33355 ORPHA:201 ORPHA:100 ORPHA:2268 ORPHA:353281 ORPHA:353277 ORPHA:1775 ORPHA:353284 ORPHA:1493 OMIM:601705 OMIM:219000 OMIM:250250 ORPHA:1830 ORPHA:2323

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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