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:
Uveitis (HP:0000554)

Parent Node:
Anterior uveitis (HP:0012122)

..Starting node
..Iridocyclitis (HP:0001094)

Term ID:

1094

Name:

Iridocyclitis

Synonym:

Definition:

A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.

Comments:

Reference:

HP:0001094

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:0001094	HP:0001094	Iridocyclitis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0001094	HP:0001094	Iridocyclitis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0001094	HP:0001094	Iridocyclitis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	8
HP:0001094	HP:0001094	Iridocyclitis	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0001094	HP:0001094	Iridocyclitis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	65
HP:0001094	HP:0001094	Iridocyclitis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0001094	HP:0001094	Iridocyclitis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187
HP:0001094	HP:0001094	Iridocyclitis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0001094	HP:0001094	Iridocyclitis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	3
HP:0001094	HP:0001094	Iridocyclitis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	2
HP:0001094	HP:0001094	Iridocyclitis	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare	14

Genes (11) :AIRE ANKRD55 CD247 HLA-DRB1 IL2RA IL2RB NOD2 PTPN2 PTPN22 STAT4 STUB1

Diseases (5) :OMIM:240300 ORPHA:85408 OMIM:181000 ORPHA:90340 ORPHA:412057

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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