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 vasculature of the eye (HP:0008047)

Parent Node:
Abnormal conjunctiva morphology (HP:0000502)

Parent Node:
Red eye (HP:0025337)

..Starting node
..Conjunctival hyperemia (HP:0030953)

Term ID:

30953

Name:

Conjunctival hyperemia

Synonym:

Conjunctival hyperaemia; Conjunctival injection; Conjunctival vascular congestion

Definition:

Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.

Comments:

Reference:

HP:0030953

Genes and Diseases:

Child Nodes:

........

Circumlimbal hyperemia (HP:0025338)

Sister Nodes:

Conjunctivitis (HP:0000509)

Deep episcleral hyperemia (HP:0025340)

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:0030953	HP:0030953	Conjunctival hyperemia	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0030953	HP:0030953	Conjunctival hyperemia	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0030953	HP:0030953	Conjunctival hyperemia	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0030953	HP:0030953	Conjunctival hyperemia	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0030953	HP:0030953	Conjunctival hyperemia	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0030953	HP:0030953	Conjunctival hyperemia	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0030953	HP:0025338	Circumlimbal hyperemia	1	CL E G H

Genes (5) :AP1G1 MAPT NLRP3 SHMT2 TNFRSF1A

Diseases (6) :OMIM:619548 ORPHA:240071 OMIM:148200 OMIM:191900 OMIM:619121 OMIM:142680

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