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:
Immunodeficiency (HP:0002721)

Parent Node:
Combined immunodeficiency (HP:0005387)

..Starting node
..Severe combined immunodeficiency (HP:0004430)

Term ID:

4430

Name:

Severe combined immunodeficiency

Synonym:

Immunodeficiency, severe combined

Definition:

A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.

Comments:

Reference:

HP:0004430

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004430	HP:0004430	Severe combined immunodeficiency	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	75
HP:0004430	HP:0004430	Severe combined immunodeficiency	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:0004430	HP:0004430	Severe combined immunodeficiency	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	515
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	48
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	.	94
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	88
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	88
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040281 - Very frequent	11
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040282 - Frequent	52
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	.	42
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent	127
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	127
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	50
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	37
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040281 - Very frequent	26
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional	26
HP:0004430	HP:0004430	Severe combined immunodeficiency	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040282 - Frequent	9

Genes (20) :ADA AK2 BCL11B CHD7 DCLRE1C EXTL3 IL2RG IL7R JAK3 LIG4 MTHFD1 PGM3 PI4KA PNP PRKDC RAG1 RAG2 RMRP TTC7A XRCC4

Diseases (19) :ORPHA:39041 OMIM:102700 ORPHA:33355 OMIM:617237 OMIM:602450 OMIM:617425 ORPHA:508533 OMIM:300400 OMIM:608971 OMIM:600802 ORPHA:99812 OMIM:617780 ORPHA:443811 ORPHA:436252 ORPHA:760 OMIM:615966 ORPHA:231154 OMIM:601457 OMIM:243150

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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