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 fundus morphology (HP:0001098)

Parent Node:
Abnormal myelination (HP:0012447)

Parent Node:
Abnormal retinal morphology (HP:0000479)

..Starting node
..Hypermyelinated retinal nerve fibers (HP:0007922)

Term ID:

7922

Name:

Hypermyelinated retinal nerve fibers

Synonym:

Hypermyelinated retinal nerve fibres; Retinal striation

Definition:

Comments:

Reference:

HP:0007922

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal chorioretinal morphology (HP:0000532)

Abnormal macular morphology (HP:0001103)

Abnormal retinal vascular morphology (HP:0008046)

Abnormality of retinal pigmentation (HP:0007703)

Angioid streaks of the fundus (HP:0001102)

Aplasia/Hypoplasia of the retina (HP:0008061)

Intraretinal fluid (HP:0031527)

Retinal coloboma (HP:0000480)

Retinal degeneration (HP:0000546)

Retinal detachment (HP:0000541)

Retinal dysplasia (HP:0007973)

Retinal dystrophy (HP:0000556)

Retinal fold (HP:0008052)

Retinal hamartoma (HP:0009594)

Retinal hemorrhage (HP:0000573)

Retinal infarction (HP:0007866)

Retinal neoplasm (HP:0012777)

Retinal perforation (HP:0011958)

Retinal thinning (HP:0030329)

Retinopathy (HP:0000488)

Retinoschisis (HP:0030502)

Sub-RPE deposits (HP:0031531)

Subretinal deposits (HP:0031528)

Subretinal fluid (HP:0031526)

Yellow/white lesions of the retina (HP:0030506)

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:0007922	HP:0007922	Hypermyelinated retinal nerve fibers	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0007922	HP:0007922	Hypermyelinated retinal nerve fibers	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0007922	HP:0007922	Hypermyelinated retinal nerve fibers	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309

Genes (2) :CYP27A1 SACS

Diseases (3) :ORPHA:909 ORPHA:98 OMIM:270550

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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