Human Phenotype Ontology

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 uvea morphology (HP:0000553)

Grandparent Node:
Aplasia/Hypoplasia affecting the eye (HP:0008056)

Parent Node:
Abnormal ciliary body morphology (HP:0012776)

Parent Node:
Aplasia/Hypoplasia affecting the uvea (HP:0008055)

..Starting node
..Hypoplasia of the ciliary body (HP:0007774)

Term ID:

7774

Name:

Hypoplasia of the ciliary body

Synonym:

Definition:

Underdevelopment of the ciliary body.

Comments:

Reference:

HP:0007774

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the iris (HP:0008053)

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:0007774	HP:0007774	Hypoplasia of the ciliary body	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92

Genes (1) :LAMB2

Diseases (1) :OMIM:609049

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