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 iris morphology (HP:0000525)

Grandparent Node:
Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)

Grandparent Node:
Aplasia/Hypoplasia affecting the uvea (HP:0008055)

Parent Node:
Aplasia/Hypoplasia of the iris (HP:0008053)

..Starting node
..Aniridia (HP:0000526)

Term ID:

526

Name:

Aniridia

Synonym:

Absent iris

Definition:

Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.

Comments:

Reference:

HP:0000526

Genes and Diseases:

Child Nodes:

........

Partial aniridia (HP:0011498)

Sister Nodes:

Hypoplasia of the iris (HP:0007676)

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:0000526	HP:0000526	Aniridia	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7642
HP:0000526	HP:0000526	Aniridia	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	2
HP:0000526	HP:0000526	Aniridia	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000526	HP:0000526	Aniridia	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	164
HP:0000526	HP:0000526	Aniridia	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare
HP:0000526	HP:0000526	Aniridia	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	3
HP:0000526	HP:0000526	Aniridia	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000526	HP:0000526	Aniridia	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2	.	4
HP:0000526	HP:0000526	Aniridia	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000526	HP:0000526	Aniridia	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0000526	HP:0000526	Aniridia	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	37
HP:0000526	HP:0000526	Aniridia	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	301
HP:0000526	HP:0000526	Aniridia	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	63
HP:0000526	HP:0000526	Aniridia	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.	23
HP:0000526	HP:0000526	Aniridia	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	73
HP:0000526	HP:0000526	Aniridia	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	4
HP:0000526	HP:0000526	Aniridia	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	177
HP:0000526	HP:0000526	Aniridia	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0000526	HP:0000526	Aniridia	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	202
HP:0000526	HP:0000526	Aniridia	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0000526	HP:0000526	Aniridia	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000526	HP:0000526	Aniridia	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	84
HP:0000526	HP:0000526	Aniridia	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	4
HP:0000526	HP:0000526	Aniridia	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	1952
HP:0000526	HP:0000526	Aniridia	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0000526	HP:0000526	Aniridia	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	194
HP:0000526	HP:0000526	Aniridia	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional	194
HP:0000526	HP:0000526	Aniridia	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	194
HP:0000526	HP:0000526	Aniridia	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040281 - Very frequent	194
HP:0000526	HP:0000526	Aniridia	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0000526	HP:0000526	Aniridia	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000526	HP:0000526	Aniridia	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0000526	HP:0000526	Aniridia	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7
HP:0000526	HP:0000526	Aniridia	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	572
HP:0000526	HP:0000526	Aniridia	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000526	HP:0000526	Aniridia	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	304
HP:0000526	HP:0000526	Aniridia	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	55
HP:0000526	HP:0000526	Aniridia	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	237
HP:0000526	HP:0000526	Aniridia	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	147
HP:0000526	HP:0000526	Aniridia	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	129
HP:0000526	HP:0000526	Aniridia	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0000526	HP:0000526	Aniridia	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare
HP:0000526	HP:0000526	Aniridia	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	131
HP:0000526	HP:0000526	Aniridia	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	140
HP:0000526	HP:0000526	Aniridia	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0000526	HP:0000526	Aniridia	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	1
HP:0000526	HP:0000526	Aniridia	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0000526	HP:0000526	Aniridia	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	490
HP:0000526	HP:0000526	Aniridia	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	4
HP:0000526	HP:0000526	Aniridia	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0000526	HP:0000526	Aniridia	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	177
HP:0000526	HP:0000526	Aniridia	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040281 - Very frequent	177

Genes (45) :BRCA2 BTRC CHN1 DIS3L2 DLST DLX5 DLX6 ELP4 EPS15L1 FAM111A FBXW4 FH FOXC1 FOXE3 GPC3 H19 ITPR1 KIF1B LDHD MAFB MAX MDH2 NF1 PAX6 PITX2 PORCN POU6F2 REST RET SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SLC25A11 TMEM127 TP63 TRIM28 TRIM44 TRIP13 VHL WNT10B WT1

Diseases (16) :ORPHA:654 ORPHA:2440 ORPHA:233 ORPHA:29072 OMIM:617141 OMIM:602361 ORPHA:250923 OMIM:610256 ORPHA:1065 OMIM:206700 OMIM:245450 OMIM:106210 ORPHA:2334 OMIM:194072 OMIM:180500 OMIM:305600

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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