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 the optic nerve (HP:0000587)

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

..Starting node
..Papilledema (HP:0001085)

Term ID:

1085

Name:

Papilledema

Synonym:

Papillitis

Definition:

Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.

Comments:

Reference:

HP:0001085

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Optic atrophy (HP:0000648)

Optic disc drusen (HP:0012426)

Optic disc pallor (HP:0000543)

Pseudopapilledema (HP:0000538)

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:0001085	HP:0001085	Papilledema	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0001085	HP:0001085	Papilledema	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0001085	HP:0001085	Papilledema	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0001085	HP:0001085	Papilledema	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0001085	HP:0001085	Papilledema	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0001085	HP:0001085	Papilledema	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0001085	HP:0001085	Papilledema	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0001085	HP:0001085	Papilledema	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0001085	HP:0001085	Papilledema	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001085	HP:0001085	Papilledema	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0001085	HP:0001085	Papilledema	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0001085	HP:0001085	Papilledema	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0001085	HP:0001085	Papilledema	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0001085	HP:0001085	Papilledema	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	.	8
HP:0001085	HP:0001085	Papilledema	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0001085	HP:0001085	Papilledema	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0001085	HP:0001085	Papilledema	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0001085	HP:0001085	Papilledema	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001085	HP:0001085	Papilledema	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0001085	HP:0001085	Papilledema	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0001085	HP:0001085	Papilledema	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0001085	HP:0001085	Papilledema	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0001085	HP:0001085	Papilledema	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0001085	HP:0001085	Papilledema	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0001085	HP:0001085	Papilledema	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0001085	HP:0001085	Papilledema	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0001085	HP:0001085	Papilledema	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0001085	HP:0001085	Papilledema	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus	.	911
HP:0001085	HP:0001085	Papilledema	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0001085	HP:0001085	Papilledema	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001085	HP:0001085	Papilledema	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490

Genes (27) :AKT1 APC BAP1 BRAF CCND1 CTNNB1 FAM111A GBA1 IDS IFT172 IL11RA MMP14 MMP2 NF2 NLRP3 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SOST SUFU TERT TP53 TRAF7 UQCRFS1 VHL

Diseases (18) :ORPHA:2495 ORPHA:99818 ORPHA:54595 ORPHA:892 ORPHA:93325 OMIM:127000 ORPHA:2072 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:619471 OMIM:614188 ORPHA:371428 OMIM:607115 OMIM:122860 OMIM:269500 OMIM:260500 OMIM:618775

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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