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 staphyloma (HP:0030854)

Term ID:

30854

Name:

Scleral staphyloma

Synonym:

Staphyloma

Definition:

A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.

Comments:

Reference:

HP:0030854

Genes and Diseases:

Child Nodes:

........

Anterior staphyloma (HP:0030855)

........

Posterior staphyloma (HP:0030856)

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 thickening (HP:0030823)

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:0030854	HP:0030854	Scleral staphyloma	0	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0030854	HP:0030854	Scleral staphyloma	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0030854	HP:0030854	Scleral staphyloma	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency		99
HP:0030854	HP:0030854	Scleral staphyloma	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0030854	HP:0030854	Scleral staphyloma	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2		124
HP:0030854	HP:0030854	Scleral staphyloma	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2		121
HP:0030854	HP:0030854	Scleral staphyloma	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0030854	HP:0030854	Scleral staphyloma	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0030854	HP:0030854	Scleral staphyloma	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0030854	HP:0030855	Anterior staphyloma	1	CL E G H
HP:0030854	HP:0030856	Posterior staphyloma	1	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0030854	HP:0030856	Posterior staphyloma	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0030854	HP:0030856	Posterior staphyloma	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	99
HP:0030854	HP:0030856	Posterior staphyloma	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0030854	HP:0030856	Posterior staphyloma	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional	124
HP:0030854	HP:0030856	Posterior staphyloma	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040283 - Occasional	121
HP:0030854	HP:0030856	Posterior staphyloma	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12

Genes (9) :ARL2 BEST1 HADHA IMPG2 MC1R OCA2 PAX2 PIGT VPS4A

Diseases (8) :OMIM:619082 OMIM:193220 ORPHA:5 OMIM:613581 ORPHA:79432 OMIM:120330 ORPHA:369837 OMIM:619273

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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