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 uvea morphology (HP:0000553)

Grandparent Node:
Aplasia/Hypoplasia affecting the eye (HP:0008056)

Parent Node:
Abnormality iris morphology (HP:0000525)

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

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

..Starting node
..Aplasia/Hypoplasia of the iris (HP:0008053)

Term ID:

8053

Name:

Aplasia/Hypoplasia of the iris

Synonym:

Absent/small iris; Absent/underdeveloped iris

Definition:

Absence or underdevelopment of the iris.

Comments:

Reference:

HP:0008053

Genes and Diseases:

Child Nodes:

........

Aniridia (HP:0000526)

................... HP:0011498 Partial aniridia

........

Hypoplasia of the iris (HP:0007676)

................... HP:0000558 Rieger anomaly
................... HP:0007990 Hypoplastic iris stroma
................... HP:0008345 Hypoplasia of the iris dilator muscle

Sister Nodes:

Hypoplasia of the ciliary body (HP:0007774)

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:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040281 - Very frequent	5
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma		7642
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation		2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma		164
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation		3
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation		37
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040281 - Very frequent	63
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia		63
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma		73
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma		4
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		177
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome		1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	NDP CL E G H	4693	7678	ORPHA:190	Coats disease	HP:0040283 - Occasional	39
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes		194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia		194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional	194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040281 - Very frequent	194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040281 - Very frequent	51
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma		2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma		7
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10		31
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation		140
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma		2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia		1
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma		2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation		4
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma		177
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040281 - Very frequent	177
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0008053	HP:0008053	Aplasia/Hypoplasia of the iris	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0008053	HP:0007676	Hypoplasia of the iris	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008053	HP:0000526	Aniridia	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7642
HP:0008053	HP:0000526	Aniridia	1	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	2
HP:0008053	HP:0000526	Aniridia	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0008053	HP:0007676	Hypoplasia of the iris	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0008053	HP:0007676	Hypoplasia of the iris	1	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:0008053	HP:0007676	Hypoplasia of the iris	1	CPAMD8 CL E G H	27151	23228	OMIM:617319	Anterior segment dysgenesis 8		5
HP:0008053	HP:0007676	Hypoplasia of the iris	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008053	HP:0007676	Hypoplasia of the iris	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008053	HP:0000526	Aniridia	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	164
HP:0008053	HP:0000526	Aniridia	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare
HP:0008053	HP:0000526	Aniridia	1	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	3
HP:0008053	HP:0000526	Aniridia	1	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0008053	HP:0000526	Aniridia	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2	.	4
HP:0008053	HP:0000526	Aniridia	1	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0008053	HP:0007676	Hypoplasia of the iris	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0008053	HP:0000526	Aniridia	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0008053	HP:0007676	Hypoplasia of the iris	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0008053	HP:0000526	Aniridia	1	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	37
HP:0008053	HP:0007676	Hypoplasia of the iris	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0008053	HP:0007676	Hypoplasia of the iris	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008053	HP:0000526	Aniridia	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	301
HP:0008053	HP:0007676	Hypoplasia of the iris	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0008053	HP:0007676	Hypoplasia of the iris	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0008053	HP:0000526	Aniridia	1	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	63
HP:0008053	HP:0000526	Aniridia	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.	23
HP:0008053	HP:0000526	Aniridia	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	73
HP:0008053	HP:0000526	Aniridia	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	4
HP:0008053	HP:0007676	Hypoplasia of the iris	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0008053	HP:0007676	Hypoplasia of the iris	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0008053	HP:0007676	Hypoplasia of the iris	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008053	HP:0007676	Hypoplasia of the iris	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0008053	HP:0000526	Aniridia	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	177
HP:0008053	HP:0007676	Hypoplasia of the iris	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0008053	HP:0000526	Aniridia	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.	177
HP:0008053	HP:0000526	Aniridia	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	202
HP:0008053	HP:0007676	Hypoplasia of the iris	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0008053	HP:0000526	Aniridia	1	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0008053	HP:0007676	Hypoplasia of the iris	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008053	HP:0007676	Hypoplasia of the iris	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome	HP:0040283 - Occasional	289
HP:0008053	HP:0000526	Aniridia	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0008053	HP:0007676	Hypoplasia of the iris	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0008053	HP:0000526	Aniridia	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	84
HP:0008053	HP:0000526	Aniridia	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	4
HP:0008053	HP:0007676	Hypoplasia of the iris	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.	1
HP:0008053	HP:0007676	Hypoplasia of the iris	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0008053	HP:0007676	Hypoplasia of the iris	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	39
HP:0008053	HP:0007676	Hypoplasia of the iris	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0008053	HP:0000526	Aniridia	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	1952
HP:0008053	HP:0007676	Hypoplasia of the iris	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0008053	HP:0000526	Aniridia	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008053	HP:0000526	Aniridia	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	194
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0008053	HP:0000526	Aniridia	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040283 - Occasional	194
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis		194
HP:0008053	HP:0000526	Aniridia	1	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	194
HP:0008053	HP:0000526	Aniridia	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040281 - Very frequent	194
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040281 - Very frequent	43
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0008053	HP:0000526	Aniridia	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0008053	HP:0007676	Hypoplasia of the iris	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0008053	HP:0000526	Aniridia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0008053	HP:0000526	Aniridia	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0008053	HP:0000526	Aniridia	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7
HP:0008053	HP:0000526	Aniridia	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	572
HP:0008053	HP:0007676	Hypoplasia of the iris	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0008053	HP:0000526	Aniridia	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0008053	HP:0000526	Aniridia	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	304
HP:0008053	HP:0000526	Aniridia	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	55
HP:0008053	HP:0000526	Aniridia	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	237
HP:0008053	HP:0000526	Aniridia	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	147
HP:0008053	HP:0000526	Aniridia	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	129
HP:0008053	HP:0000526	Aniridia	1	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0008053	HP:0000526	Aniridia	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare
HP:0008053	HP:0007676	Hypoplasia of the iris	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0008053	HP:0007676	Hypoplasia of the iris	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0008053	HP:0000526	Aniridia	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	131
HP:0008053	HP:0000526	Aniridia	1	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	140
HP:0008053	HP:0000526	Aniridia	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0008053	HP:0000526	Aniridia	1	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent	1
HP:0008053	HP:0000526	Aniridia	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0008053	HP:0000526	Aniridia	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040284 - Very rare	490
HP:0008053	HP:0007676	Hypoplasia of the iris	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0008053	HP:0007676	Hypoplasia of the iris	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0008053	HP:0000526	Aniridia	1	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	4
HP:0008053	HP:0000526	Aniridia	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008053	HP:0007676	Hypoplasia of the iris	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008053	HP:0000526	Aniridia	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	177
HP:0008053	HP:0000526	Aniridia	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040281 - Very frequent	177
HP:0008053	HP:0008345	Hypoplasia of the iris dilator muscle	2	CL E G H
HP:0008053	HP:0000558	Rieger anomaly	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0008053	HP:0000558	Rieger anomaly	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008053	HP:0000558	Rieger anomaly	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008053	HP:0000558	Rieger anomaly	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008053	HP:0000558	Rieger anomaly	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.	63
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.	63
HP:0008053	HP:0000558	Rieger anomaly	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0008053	HP:0000558	Rieger anomaly	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008053	HP:0000558	Rieger anomaly	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0008053	HP:0000558	Rieger anomaly	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0008053	HP:0000558	Rieger anomaly	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent	194
HP:0008053	HP:0000558	Rieger anomaly	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0008053	HP:0000558	Rieger anomaly	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0008053	HP:0007990	Hypoplastic iris stroma	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86

Genes (129) :ADAMTSL1 B9D1 B9D2 BAZ1B BCL7B BDNF BRCA1 BRCA2 BRIP1 BTRC BUD23 CC2D2A CEP290 CHN1 CLIP2 COL4A1 CPAMD8 CPLX1 CSPP1 CTBP1 DIS3L2 DLST DLX5 DLX6 DNAJC30 EIF4H ELN ELP4 EPS15L1 ERCC4 ERCC6 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW4 FGFR1 FGFRL1 FH FKBP6 FOXC1 FOXE3 GPC3 GTF2I GTF2IRD1 GTF2IRD2 H19 HHAT HS2ST1 IGF1R ITPR1 KIF1B LAMB2 LDHD LETM1 LIMK1 LRP2 MAD2L2 MAFB MAX MDH2 METTL27 MIR184 MITF MKS1 MLXIPL NCF1 NDP NF1 NSD2 PALB2 PAX3 PAX6 PIK3R1 PITX2 PORCN POU6F2 RAD51 RAD51C REST RET RFC2 RFWD3 RPGRIP1 RPGRIP1L SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SLC25A11 SLX4 SOX10 STIM1 STX1A TBL2 TCTN1 TCTN2 TCTN3 TMEM107 TMEM127 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TP63 TRIM28 TRIM44 TRIP13 TXNDC15 UBE2T VHL VPS37D VSX1 WDR73 WNT10B WT1 XRCC2

Diseases (52) :ORPHA:521445 ORPHA:564 ORPHA:904 ORPHA:893 ORPHA:84 ORPHA:654 ORPHA:2440 ORPHA:233 OMIM:175780 OMIM:617319 OMIM:194190 ORPHA:29072 OMIM:617141 OMIM:133540 OMIM:602361 OMIM:154700 OMIM:613001 OMIM:601631 ORPHA:782 OMIM:602482 ORPHA:250923 OMIM:610256 ORPHA:1422 OMIM:600092 OMIM:619194 OMIM:270450 ORPHA:1065 OMIM:206700 OMIM:609049 OMIM:245450 OMIM:222448 OMIM:614303 OMIM:193510 ORPHA:190 ORPHA:649 OMIM:310600 OMIM:193500 OMIM:106210 OMIM:604229 ORPHA:2334 ORPHA:137902 OMIM:194072 OMIM:269880 ORPHA:3163 OMIM:137600 OMIM:180500 ORPHA:2092 OMIM:305600 OMIM:611584 OMIM:612783 OMIM:614195 OMIM:251300

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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