Human Phenotype Ontology 
Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
Abnormal uvea morphology (HP:0000553)help
..Starting node
Abnormal ciliary body morphology (HP:0012776)help
Term ID: 12776
Name: Abnormal ciliary body morphology
Synonym: Abnormality of the ciliary body
Definition: A structural anomaly of the ciliary body.
Reference: HP:0012776
Genes and Diseases:
       Child Nodes:
........expandHypoplasia of the ciliary body (HP:0007774) help
........expandCiliary body melanoma (HP:0012055) help

 Sister Nodes: 
..expandAbnormal choroid morphology (HP:0000610) help
..expandAbnormality iris morphology (HP:0000525) help
..expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
..expandUveitis (HP:0000554) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012776HP:0012776Abnormal ciliary body morphology0BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0012776HP:0012776Abnormal ciliary body morphology0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0012776HP:0012776Abnormal ciliary body morphology0GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0012776HP:0012776Abnormal ciliary body morphology0GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0012776HP:0012776Abnormal ciliary body morphology0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0012776HP:0012776Abnormal ciliary body morphology0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanoma19
HP:0012776HP:0012055Ciliary body melanoma1BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040282 - Frequent184
HP:0012776HP:0012055Ciliary body melanoma1CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040282 - Frequent1
HP:0012776HP:0012055Ciliary body melanoma1GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040282 - Frequent16
HP:0012776HP:0012055Ciliary body melanoma1GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040282 - Frequent7
HP:0012776HP:0007774Hypoplasia of the ciliary body1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92
HP:0012776HP:0012055Ciliary body melanoma1SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040282 - Frequent19


Diseases (2) :ORPHA:39044 OMIM:609049

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