Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 iris morphology (HP:0000525)

Parent Node:
Abnormal pupil morphology (HP:0000615)

..Starting node
..Ectopia pupillae (HP:0009918)

Term ID:

9918

Name:

Ectopia pupillae

Synonym:

Corectopia; Displaced pupil

Definition:

A malposition of the pupil owing to a developmental defect of the iris.

Comments:

Reference:

HP:0009918

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pupil shape (HP:0025309)

Anisocoria (HP:0009916)

Leukocoria (HP:0000555)

Microcoria (HP:0025492)

Persistent pupillary membrane (HP:0009917)

Polycoria (HP:0011500)

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:0009918	HP:0009918	Ectopia pupillae	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional	84
HP:0009918	HP:0009918	Ectopia pupillae	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare	193
HP:0009918	HP:0009918	Ectopia pupillae	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	3
HP:0009918	HP:0009918	Ectopia pupillae	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0009918	HP:0009918	Ectopia pupillae	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0009918	HP:0009918	Ectopia pupillae	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0009918	HP:0009918	Ectopia pupillae	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional	1361
HP:0009918	HP:0009918	Ectopia pupillae	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0009918	HP:0009918	Ectopia pupillae	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.	63
HP:0009918	HP:0009918	Ectopia pupillae	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0009918	HP:0009918	Ectopia pupillae	0	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4	HP:0040284 - Very rare	33
HP:0009918	HP:0009918	Ectopia pupillae	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	33
HP:0009918	HP:0009918	Ectopia pupillae	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0009918	HP:0009918	Ectopia pupillae	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.	5
HP:0009918	HP:0009918	Ectopia pupillae	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0009918	HP:0009918	Ectopia pupillae	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1	HP:0040283 - Occasional	4
HP:0009918	HP:0009918	Ectopia pupillae	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	4
HP:0009918	HP:0009918	Ectopia pupillae	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0009918	HP:0009918	Ectopia pupillae	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional	11
HP:0009918	HP:0009918	Ectopia pupillae	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0009918	HP:0009918	Ectopia pupillae	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0009918	HP:0009918	Ectopia pupillae	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0009918	HP:0009918	Ectopia pupillae	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	47
HP:0009918	HP:0009918	Ectopia pupillae	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0009918	HP:0009918	Ectopia pupillae	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	8
HP:0009918	HP:0009918	Ectopia pupillae	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0009918	HP:0009918	Ectopia pupillae	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362

Genes (23) :ADAMTSL4 COL4A1 COL8A2 CPAMD8 CPLX1 CTBP1 FBN1 FGFRL1 FOXC1 GRHL2 LETM1 MAB21L2 NSD2 OVOL2 PAX6 PCYT1A PITX2 RHOA TBX2 VSX1 WT1 ZEB1 ZEB2

Diseases (17) :ORPHA:1885 OMIM:175780 ORPHA:98973 OMIM:617319 OMIM:194190 OMIM:601631 OMIM:602482 OMIM:618031 OMIM:615877 OMIM:122000 OMIM:106210 ORPHA:85167 OMIM:180500 OMIM:618727 OMIM:618223 OMIM:235730 ORPHA:261552

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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