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:
Abnormal pupillary function (HP:0007686)

Parent Node:
Abnormal pupillary light reflex (HP:0007695)

..Starting node
..Slow pupillary light response (HP:0030211)

Term ID:

30211

Name:

Slow pupillary light response

Synonym:

Definition:

Reduced velocity and acceleration in the pupillary light response.

Comments:

Reference:

HP:0030211

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0030211	HP:0030211	Slow pupillary light response	0	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	75	12423	602280
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030211	HP:0030211	Slow pupillary light response	0	COLQ CL E G H	8292	98915				ORPHA	0	70	2226	603033
HP:0030211	HP:0030211	Slow pupillary light response	0	LAMB2 CL E G H	3913	98915				ORPHA	0	127	6487	150325

Genes (3) :COLQ LAMB2 TULP1

Diseases (2) :98915 613843

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.