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:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormal sclera morphology (HP:0000591)

..Starting node
..Scleral thickening (HP:0030823)

Term ID:

30823

Name:

Scleral thickening

Synonym:

Thick sclera

Definition:

Increased dimension of the sclera in the anterior-posterior axis.

Comments:

Reference:

HP:0030823

Genes and Diseases:

Child Nodes:

Sister Nodes:

Blue sclerae (HP:0000592)

Deep episcleral hyperemia (HP:0025340)

Episcleritis (HP:0100534)

Limbal dermoid (HP:0001140)

Ocular melanocytosis (HP:0025534)

Pigmentation of the sclera (HP:0007832)

Scleral rupture (HP:0025513)

Scleral schwannoma (HP:0100011)

Scleral staphyloma (HP:0030854)

Scleritis (HP:0100532)

Superficial episcleral hyperemia (HP:0025339)

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:0030823	HP:0030823	Scleral thickening	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0030823	HP:0030823	Scleral thickening	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0030823	HP:0030823	Scleral thickening	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.	26
HP:0030823	HP:0030823	Scleral thickening	0	PRSS56 CL E G H	646960	39433	OMIM:613517	Microphthalmia, isolated 6	.	11

Genes (3) :IDS MFRP PRSS56

Diseases (4) :ORPHA:217093 ORPHA:217085 OMIM:611040 OMIM:613517

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