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 cranial nerve morphology (HP:0001291)

Parent Node:
Abnormality of the optic nerve (HP:0000587)

Parent Node:
Cranial nerve compression (HP:0001293)

..Starting node
..Optic nerve compression (HP:0007807)

Term ID:

7807

Name:

Optic nerve compression

Synonym:

Definition:

Comments:

Reference:

HP:0007807

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial paralysis (HP:0007209)

Optic atrophy from cranial nerve compression (HP:0007958)

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:0007807	HP:0007807	Optic nerve compression	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0007807	HP:0007807	Optic nerve compression	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0007807	HP:0007807	Optic nerve compression	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0007807	HP:0007807	Optic nerve compression	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0007807	HP:0007807	Optic nerve compression	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0007807	HP:0007807	Optic nerve compression	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0007807	HP:0007807	Optic nerve compression	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	2
HP:0007807	HP:0007807	Optic nerve compression	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	82
HP:0007807	HP:0007807	Optic nerve compression	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0007807	HP:0007807	Optic nerve compression	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0007807	HP:0007807	Optic nerve compression	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0007807	HP:0007807	Optic nerve compression	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0007807	HP:0007807	Optic nerve compression	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	44
HP:0007807	HP:0007807	Optic nerve compression	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0007807	HP:0007807	Optic nerve compression	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0007807	HP:0007807	Optic nerve compression	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7

Genes (15) :ATRX BRAF CA2 CDH23 CLCN7 NR3C1 SNX10 TCIRG1 TGFB1 TMEM53 TNFRSF11A TNFSF11 TP53 USP48 USP8

Diseases (7) :ORPHA:96253 OMIM:259730 ORPHA:667 OMIM:131300 ORPHA:1328 OMIM:619727 OMIM:612301

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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