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 of the optic nerve (HP:0000587)

Parent Node:
Abnormal optic disc morphology (HP:0012795)

..Starting node
..Optic disc pallor (HP:0000543)

Term ID:

543

Name:

Optic disc pallor

Synonym:

Disc pallor; Pale optic disc; Pale optic discs; Pale optic disk

Definition:

A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.

Comments:

Reference:

HP:0000543

Genes and Diseases:

Child Nodes:

........

Temporal optic disc pallor (HP:0012511)

................... HP:0500086 Optic nerve gray crescent

........

Diffuse optic disc pallor (HP:0012512)

................... HP:0500087 Peripapillary atrophy

Sister Nodes:

Increased cup-to-disc ratio (HP:0012796)

Optic atrophy (HP:0000648)

Optic disc drusen (HP:0012426)

Papilledema (HP:0001085)

Pseudopapilledema (HP:0000538)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000543	HP:0000543	Optic disc pallor	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000543	HP:0000543	Optic disc pallor	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.		826
HP:0000543	HP:0000543	Optic disc pallor	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000543	HP:0000543	Optic disc pallor	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000543	HP:0000543	Optic disc pallor	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000543	HP:0000543	Optic disc pallor	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.		60
HP:0000543	HP:0000543	Optic disc pallor	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000543	HP:0000543	Optic disc pallor	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0000543	HP:0000543	Optic disc pallor	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0000543	HP:0000543	Optic disc pallor	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0000543	HP:0000543	Optic disc pallor	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000543	HP:0000543	Optic disc pallor	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0000543	HP:0000543	Optic disc pallor	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.		3
HP:0000543	HP:0000543	Optic disc pallor	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000543	HP:0000543	Optic disc pallor	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0000543	HP:0000543	Optic disc pallor	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000543	HP:0000543	Optic disc pallor	0	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74	.		97
HP:0000543	HP:0000543	Optic disc pallor	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000543	HP:0000543	Optic disc pallor	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000543	HP:0000543	Optic disc pallor	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000543	HP:0000543	Optic disc pallor	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	HP:0040283 - Occasional		58
HP:0000543	HP:0000543	Optic disc pallor	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000543	HP:0000543	Optic disc pallor	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000543	HP:0000543	Optic disc pallor	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000543	HP:0000543	Optic disc pallor	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000543	HP:0000543	Optic disc pallor	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0000543	HP:0000543	Optic disc pallor	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22		HP:0011463 - Childhood onset
HP:0000543	HP:0000543	Optic disc pallor	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0000543	HP:0000543	Optic disc pallor	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000543	HP:0000543	Optic disc pallor	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000543	HP:0000543	Optic disc pallor	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.		61
HP:0000543	HP:0000543	Optic disc pallor	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000543	HP:0000543	Optic disc pallor	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000543	HP:0000543	Optic disc pallor	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0000543	HP:0000543	Optic disc pallor	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000543	HP:0000543	Optic disc pallor	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000543	HP:0000543	Optic disc pallor	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0000543	HP:0000543	Optic disc pallor	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0000543	HP:0000543	Optic disc pallor	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000543	HP:0000543	Optic disc pallor	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000543	HP:0000543	Optic disc pallor	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0000543	HP:0000543	Optic disc pallor	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000543	HP:0000543	Optic disc pallor	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000543	HP:0000543	Optic disc pallor	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000543	HP:0000543	Optic disc pallor	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0000543	HP:0000543	Optic disc pallor	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		199
HP:0000543	HP:0000543	Optic disc pallor	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		55
HP:0000543	HP:0000543	Optic disc pallor	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000543	HP:0000543	Optic disc pallor	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000543	HP:0000543	Optic disc pallor	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25	.		209
HP:0000543	HP:0000543	Optic disc pallor	0	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000543	HP:0000543	Optic disc pallor	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	HP:0040283 - Occasional		3
HP:0000543	HP:0000543	Optic disc pallor	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0000543	HP:0000543	Optic disc pallor	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0000543	HP:0000543	Optic disc pallor	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0000543	HP:0000543	Optic disc pallor	0	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G	.		39
HP:0000543	HP:0000543	Optic disc pallor	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0000543	HP:0000543	Optic disc pallor	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000543	HP:0000543	Optic disc pallor	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000543	HP:0000543	Optic disc pallor	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0000543	HP:0000543	Optic disc pallor	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000543	HP:0000543	Optic disc pallor	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000543	HP:0000543	Optic disc pallor	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71	.		48
HP:0000543	HP:0000543	Optic disc pallor	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.		52
HP:0000543	HP:0000543	Optic disc pallor	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000543	HP:0000543	Optic disc pallor	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000543	HP:0000543	Optic disc pallor	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	.		3
HP:0000543	HP:0000543	Optic disc pallor	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0000543	HP:0000543	Optic disc pallor	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0000543	HP:0000543	Optic disc pallor	0	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000543	HP:0000543	Optic disc pallor	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000543	HP:0000543	Optic disc pallor	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0000543	HP:0000543	Optic disc pallor	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0000543	HP:0000543	Optic disc pallor	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000543	HP:0000543	Optic disc pallor	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000543	HP:0000543	Optic disc pallor	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000543	HP:0000543	Optic disc pallor	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0000543	HP:0000543	Optic disc pallor	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0000543	HP:0000543	Optic disc pallor	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62	.		53
HP:0000543	HP:0000543	Optic disc pallor	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040284 - Very rare		136
HP:0000543	HP:0000543	Optic disc pallor	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0000543	HP:0000543	Optic disc pallor	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000543	HP:0000543	Optic disc pallor	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000543	HP:0000543	Optic disc pallor	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.		75
HP:0000543	HP:0000543	Optic disc pallor	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0000543	HP:0000543	Optic disc pallor	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0000543	HP:0000543	Optic disc pallor	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0000543	HP:0000543	Optic disc pallor	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000543	HP:0000543	Optic disc pallor	0	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	HP:0040283 - Occasional		120
HP:0000543	HP:0000543	Optic disc pallor	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0000543	HP:0000543	Optic disc pallor	0	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies			2
HP:0000543	HP:0000543	Optic disc pallor	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040284 - Very rare
HP:0000543	HP:0000543	Optic disc pallor	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0000543	HP:0000543	Optic disc pallor	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000543	HP:0000543	Optic disc pallor	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000543	HP:0000543	Optic disc pallor	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000543	HP:0000543	Optic disc pallor	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000543	HP:0000543	Optic disc pallor	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0000543	HP:0000543	Optic disc pallor	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0000543	HP:0000543	Optic disc pallor	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional		40
HP:0000543	HP:0000543	Optic disc pallor	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040284 - Very rare		32
HP:0000543	HP:0000543	Optic disc pallor	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.		15
HP:0000543	HP:0000543	Optic disc pallor	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000543	HP:0000543	Optic disc pallor	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000543	HP:0000543	Optic disc pallor	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0000543	HP:0000543	Optic disc pallor	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000543	HP:0000543	Optic disc pallor	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000543	HP:0000543	Optic disc pallor	0	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000543	HP:0000543	Optic disc pallor	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0000543	HP:0000543	Optic disc pallor	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0000543	HP:0000543	Optic disc pallor	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000543	HP:0000543	Optic disc pallor	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000543	HP:0000543	Optic disc pallor	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.		18
HP:0000543	HP:0000543	Optic disc pallor	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0000543	HP:0000543	Optic disc pallor	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000543	HP:0000543	Optic disc pallor	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000543	HP:0000543	Optic disc pallor	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	HP:0040283 - Occasional		11
HP:0000543	HP:0000543	Optic disc pallor	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0000543	HP:0000543	Optic disc pallor	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000543	HP:0000543	Optic disc pallor	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000543	HP:0000543	Optic disc pallor	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36	.		39
HP:0000543	HP:0000543	Optic disc pallor	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000543	HP:0000543	Optic disc pallor	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000543	HP:0000543	Optic disc pallor	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000543	HP:0000543	Optic disc pallor	0	PRPF4 CL E G H	9128	17349	OMIM:615922	Retinitis pigmentosa 70	.		2
HP:0000543	HP:0000543	Optic disc pallor	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0000543	HP:0000543	Optic disc pallor	0	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000543	HP:0000543	Optic disc pallor	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	HP:0040283 - Occasional		108
HP:0000543	HP:0000543	Optic disc pallor	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0000543	HP:0000543	Optic disc pallor	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000543	HP:0000543	Optic disc pallor	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000543	HP:0000543	Optic disc pallor	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000543	HP:0000543	Optic disc pallor	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000543	HP:0000543	Optic disc pallor	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000543	HP:0000543	Optic disc pallor	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000543	HP:0000543	Optic disc pallor	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000543	HP:0000543	Optic disc pallor	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000543	HP:0000543	Optic disc pallor	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0000543	HP:0000543	Optic disc pallor	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000543	HP:0000543	Optic disc pallor	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000543	HP:0000543	Optic disc pallor	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0000543	HP:0000543	Optic disc pallor	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000543	HP:0000543	Optic disc pallor	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040283 - Occasional		171
HP:0000543	HP:0000543	Optic disc pallor	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000543	HP:0000543	Optic disc pallor	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000543	HP:0000543	Optic disc pallor	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0000543	HP:0000543	Optic disc pallor	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0000543	HP:0000543	Optic disc pallor	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000543	HP:0000543	Optic disc pallor	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0000543	HP:0000543	Optic disc pallor	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0000543	HP:0000543	Optic disc pallor	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000543	HP:0000543	Optic disc pallor	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	HP:0040283 - Occasional		28
HP:0000543	HP:0000543	Optic disc pallor	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000543	HP:0000543	Optic disc pallor	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0000543	HP:0000543	Optic disc pallor	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000543	HP:0000543	Optic disc pallor	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0000543	HP:0000543	Optic disc pallor	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000543	HP:0000543	Optic disc pallor	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000543	HP:0000543	Optic disc pallor	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0000543	HP:0000543	Optic disc pallor	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000543	HP:0000543	Optic disc pallor	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0000543	HP:0000543	Optic disc pallor	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000543	HP:0000543	Optic disc pallor	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000543	HP:0000543	Optic disc pallor	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0000543	HP:0000543	Optic disc pallor	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000543	HP:0012511	Temporal optic disc pallor	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional		101
HP:0000543	HP:0012511	Temporal optic disc pallor	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000543	HP:0012511	Temporal optic disc pallor	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional		54
HP:0000543	HP:0012511	Temporal optic disc pallor	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent		4
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies			2
HP:0000543	HP:0012511	Temporal optic disc pallor	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional		47
HP:0000543	HP:0012511	Temporal optic disc pallor	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional		214
HP:0000543	HP:0012511	Temporal optic disc pallor	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000543	HP:0012512	Diffuse optic disc pallor	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000543	HP:0500086	Optic nerve gray crescent	2	CL E G H
HP:0000543	HP:0500087	Peripapillary atrophy	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0000543	HP:0500087	Peripapillary atrophy	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional		20
HP:0000543	HP:0500087	Peripapillary atrophy	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000543	HP:0500087	Peripapillary atrophy	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.		177
HP:0000543	HP:0500087	Peripapillary atrophy	2	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:0000543	HP:0500087	Peripapillary atrophy	2	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	HP:0040284 - Very rare		2
HP:0000543	HP:0500087	Peripapillary atrophy	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000543	HP:0500087	Peripapillary atrophy	2	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0000543	HP:0500087	Peripapillary atrophy	2	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0000543	HP:0500087	Peripapillary atrophy	2	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000543	HP:0500087	Peripapillary atrophy	2	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	HP:0040284 - Very rare		14

Genes (174) :ABCA4 ACER3 ACO2 AFG3L2 AIFM1 AIPL1 ALMS1 AP3B2 ARHGEF18 ARHGEF2 ARL13B ARL2BP ATP6 ATXN1 B3GALT6 BBS2 BEST1 BLOC1S3 C1QTNF5 CACNA1F CASK CERKL CFAP418 CLCC1 CLCN7 CLDN11 CLN8 CNGA1 CNGA3 CNNM4 COL18A1 COL4A1 COX7B CRB1 CYP1B1 CYP27A1 DARS1 DNM1L DPAGT1 DYRK1A EFEMP1 ELOVL1 ERCC6 ERCC8 ESPN EXOC8 EYS FAM161A FGF12 FLRT1 FOXRED1 GFM2 GNAT1 GRID2 HARS1 HK1 HLA-A HNRNPH1 IDH3B IFT172 IMPDH1 IMPG2 INPP5E ITM2B JAM3 KCNC3 KCNJ13 KIAA1549 KLC2 LCA5 LRAT LYRM7 MAG MAK MAN2B1 MAPKAPK5 MECR MERTK MFF MFN2 MFSD8 MKS1 MMP19 MSTO1 MVK MYOC ND1 ND2 ND3 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFIX NGLY1 NMNAT1 NR2F1 NUBPL OPA1 OPA3 OSTM1 PANK2 PARS2 PDE6A PDE6G PEX1 PIGB PISD PLK4 PMPCB POC1B POMGNT1 PRCD PROM1 PRORP PRPF31 PRPF4 PRPS1 RAX2 RBP3 RDH12 RIMS2 RP1 RP1L1 RPE65 RRM2B RTN4IP1 RTTN SCAPER SDHD SMG8 SNRNP200 SPATA7 SPG7 STX3 TASP1 TIMMDC1 TMEM106B TMEM126A TMEM126B TMEM67 TOR1A TPI1 TRNT1 TUB TUBB4B TUBGCP6 TULP1 UBE3B USP45 VPS41 VSX1 WFS1 ZNF408 ZNF513

Diseases (155) :OMIM:604116 OMIM:601718 OMIM:617762 OMIM:616289 OMIM:618977 OMIM:300232 OMIM:604393 ORPHA:64 OMIM:617276 OMIM:617433 OMIM:617523 OMIM:612291 OMIM:615434 ORPHA:644 OMIM:164400 ORPHA:536467 OMIM:616562 OMIM:613194 OMIM:614077 ORPHA:67042 OMIM:300476 OMIM:300749 OMIM:608380 OMIM:614500 OMIM:609913 OMIM:611490 OMIM:619328 ORPHA:1947 OMIM:613756 OMIM:216900 OMIM:217080 OMIM:267750 OMIM:175780 OMIM:300887 OMIM:600105 ORPHA:98977 OMIM:213700 ORPHA:909 OMIM:615281 ORPHA:98673 OMIM:614388 ORPHA:86309 ORPHA:464311 OMIM:618527 ORPHA:90324 OMIM:618632 OMIM:619076 OMIM:602772 OMIM:606068 OMIM:617166 ORPHA:320406 ORPHA:2609 ORPHA:565624 OMIM:616389 OMIM:616204 OMIM:614504 OMIM:617460 ORPHA:179 OMIM:620083 OMIM:612572 OMIM:616394 OMIM:180105 OMIM:613581 OMIM:213300 OMIM:616079 OMIM:613730 ORPHA:98768 OMIM:614186 OMIM:618613 OMIM:609541 ORPHA:364055 OMIM:613341 OMIM:615838 ORPHA:459056 OMIM:614181 ORPHA:309288 ORPHA:309282 OMIM:619869 OMIM:617282 OMIM:613862 OMIM:617086 ORPHA:485421 OMIM:617087 OMIM:601152 OMIM:616170 OMIM:617121 OMIM:611543 ORPHA:502423 OMIM:260920 OMIM:610377 OMIM:618240 OMIM:618776 OMIM:619170 OMIM:618230 OMIM:252010 ORPHA:420179 ORPHA:404454 OMIM:608553 OMIM:619260 OMIM:615722 ORPHA:1215 OMIM:165300 OMIM:259720 ORPHA:216866 OMIM:618437 OMIM:613810 OMIM:613582 OMIM:214100 OMIM:618580 OMIM:618889 OMIM:616171 OMIM:617954 OMIM:615973 OMIM:617123 OMIM:610599 OMIM:612095 OMIM:619737 OMIM:600138 OMIM:615922 ORPHA:423479 OMIM:620102 OMIM:615233 OMIM:612712 OMIM:618970 OMIM:180100 OMIM:618826 OMIM:204100 OMIM:268315 OMIM:616732 ORPHA:468631 OMIM:618195 OMIM:619167 OMIM:619268 OMIM:610359 ORPHA:99013 OMIM:619446 OMIM:618950 OMIM:617964 OMIM:612989 OMIM:216360 OMIM:618947 OMIM:615512 OMIM:616959 OMIM:616188 OMIM:617879 OMIM:251270 OMIM:613843 OMIM:600132 OMIM:244450 OMIM:618513 OMIM:619389 OMIM:614195 OMIM:614296 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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