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:
Abnormal anterior chamber morphology (HP:0000593)

Parent Node:
Anterior chamber synechiae (HP:0007833)

..Starting node
..Anterior synechiae of the anterior chamber (HP:0011483)

Term ID:

11483

Name:

Anterior synechiae of the anterior chamber

Synonym:

Anterior synechiae; Cornea-iris adhesion; Iridocorneal adhesions; Iridocorneal synechia

Definition:

Adhesions between the iris and the cornea.

Comments:

Reference:

HP:0011483

Genes and Diseases:

Child Nodes:

Sister Nodes:

Posterior synechiae of the anterior chamber (HP:0011484)

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:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC		177
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional	3
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	CYP1B1 CL E G H	1545	2597	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	101
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	FOXC1 CL E G H	2296	3800	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	63
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	FOXE3 CL E G H	2301	3808	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	23
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional	33
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1		4
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional	4
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	PAX6 CL E G H	5080	8620	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	194
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	PITX2 CL E G H	5308	9005	ORPHA:708	Peters anomaly	HP:0040281 - Very frequent	51
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies		22
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional	47
HP:0011483	HP:0011483	Anterior synechiae of the anterior chamber	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional	8

Genes (13) :ASPH COL18A1 COL8A2 CYP1B1 FOXC1 FOXE3 GRHL2 OVOL2 PAX6 PITX2 PXDN VSX1 ZEB1

Diseases (8) :OMIM:601552 OMIM:618880 ORPHA:98973 ORPHA:708 OMIM:122000 OMIM:604229 OMIM:269400 OMIM:614195

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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