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:
Abnormal optic disc morphology (HP:0012795)

Parent Node:
Optic disc pallor (HP:0000543)

..Starting node
..Diffuse optic disc pallor (HP:0012512)

Term ID:

12512

Name:

Diffuse optic disc pallor

Synonym:

Definition:

A pale yellow discoloration of the entire optic disc.

Comments:

Reference:

HP:0012512

Genes and Diseases:

Child Nodes:

........

Peripapillary atrophy (HP:0500087)

Sister Nodes:

Temporal optic disc pallor (HP:0012511)

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:0012512	HP:0012512	Diffuse optic disc pallor	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0012512	HP:0012512	Diffuse 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:0012512	HP:0012512	Diffuse optic disc pallor	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies		2
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0012512	HP:0012512	Diffuse optic disc pallor	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0012512	HP:0500087	Peripapillary atrophy	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0012512	HP:0500087	Peripapillary atrophy	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional	20
HP:0012512	HP:0500087	Peripapillary atrophy	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0012512	HP:0500087	Peripapillary atrophy	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0012512	HP:0500087	Peripapillary atrophy	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:0012512	HP:0500087	Peripapillary atrophy	1	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	HP:0040284 - Very rare	2
HP:0012512	HP:0500087	Peripapillary atrophy	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76		180
HP:0012512	HP:0500087	Peripapillary atrophy	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0012512	HP:0500087	Peripapillary atrophy	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.	1
HP:0012512	HP:0500087	Peripapillary atrophy	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0012512	HP:0500087	Peripapillary atrophy	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	HP:0040284 - Very rare	14

Genes (12) :B3GALT6 C1QTNF5 CNGA3 COL18A1 COL4A1 DPAGT1 MMP19 POMGNT1 SCAPER TUB TUBB4B ZNF408

Diseases (12) :ORPHA:536467 ORPHA:67042 OMIM:216900 OMIM:267750 OMIM:175780 ORPHA:86309 OMIM:611543 OMIM:617123 OMIM:618195 OMIM:616188 OMIM:617879 OMIM:616469

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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