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
..Pseudopapilledema (HP:0000538)

Term ID:

538

Name:

Pseudopapilledema

Synonym:

Definition:

Apparent optic disc swelling in the absence of increased intracranial pressure.

Comments:

Reference:

HP:0000538

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)

Papilledema (HP:0001085)

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:0000538	HP:0000538	Pseudopapilledema	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000538	HP:0000538	Pseudopapilledema	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0000538	HP:0000538	Pseudopapilledema	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent	194

Genes (3) :GATA3 NLRP3 PAX6

Diseases (3) :OMIM:146255 ORPHA:1451 ORPHA:137902

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.