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 of retinal pigmentation (HP:0007703)

Parent Node:
Pigmentary retinopathy (HP:0000580)

..Starting node
..Bone spicule pigmentation of the retina (HP:0007737)

Term ID:

7737

Name:

Bone spicule pigmentation of the retina

Synonym:

Bone corpuscle fundus pigmentation; Fundus with peripheral bony spicules; Retinal 'bone corpuscle' pigmentation; Retinal bone corpuscle pigmentation; Retinal pigmented bone spicules

Definition:

Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).

Comments:

Reference:

HP:0007737

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nummular pigmentation of the fundus (HP:0030505)

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:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.	826
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49		44
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	.	164
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12		156
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2		158
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25		209
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28		56
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent	111
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	70
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	62
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13		127
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54	.
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43		116
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40		126
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF		1
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36		39
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66		108
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13		45
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1	.	107
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.	111
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.	14
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87		129
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	129
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10		48
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33		83
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	48
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.	41
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.	777
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0007737	HP:0007737	Bone spicule pigmentation of the retina	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.	27

Genes (66) :ABCA4 AGBL5 ARL3 ARL6 ARSG BBS1 BBS9 CCDC28B CFAP418 CHM CLCC1 CLRN1 CNGA1 CNGB1 CNNM4 CRB1 CRX EYS FAM161A FLVCR1 FSCN2 GUCY2D HK1 IDH3A IFT140 IMPDH1 IMPG2 KIAA1549 LCA5 LRAT LZTFL1 MAK MFRP MKS1 NMNAT1 PCARE PDE6A PDE6B PDE6G PISD POC1B POMGNT1 PRCD PROM1 PRPF31 PRPF8 RAX2 RBP3 RDH12 RHO RP1 RP1L1 RP9 RPE65 RPGR RRM2B SCAPER SEMA4A SNRNP200 SPATA7 TTC8 TULP1 USH2A VPS13B ZNF408 ZNF513

Diseases (65) :OMIM:601718 OMIM:617023 OMIM:618173 OMIM:209900 OMIM:618144 OMIM:615986 OMIM:614500 OMIM:303100 OMIM:609913 OMIM:614180 OMIM:613756 OMIM:613767 OMIM:217080 OMIM:172870 OMIM:600105 OMIM:120970 OMIM:602772 OMIM:606068 OMIM:609033 ORPHA:88628 OMIM:607921 OMIM:601777 OMIM:617460 OMIM:619007 OMIM:617781 OMIM:180105 OMIM:613581 OMIM:618613 ORPHA:364055 OMIM:615994 OMIM:614181 OMIM:611040 OMIM:615990 OMIM:608553 OMIM:613428 OMIM:613810 OMIM:613801 OMIM:613582 OMIM:618889 OMIM:615973 OMIM:617123 OMIM:610599 OMIM:612095 OMIM:600138 OMIM:600059 OMIM:620102 OMIM:615233 OMIM:612712 OMIM:610445 OMIM:613731 OMIM:180100 OMIM:618826 OMIM:180104 OMIM:618697 OMIM:300029 OMIM:268315 OMIM:618195 OMIM:610283 OMIM:610359 OMIM:613464 OMIM:600132 OMIM:613809 OMIM:216550 OMIM:616469 OMIM:613617

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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