Human Phenotype Ontology 
Grandparent Node:
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Nyctalopia (HP:0000662)help
Grandparent Node:
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Retinal dystrophy (HP:0000556)help
Parent Node:
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Congenital stationary night blindness (HP:0007642)help
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Congenital stationary night blindness with abnormal fundus (HP:0030639)help
Term ID: 30639
Name: Congenital stationary night blindness with abnormal fundus
Synonym:
Definition:
Comments:
Reference: HP:0030639
Genes and Diseases:
 
       Child Nodes:
........expandFundus albipunctatus (HP:0030642) help

 Sister Nodes: 
..expandCongenital stationary night blindness with normal fundus (HP:0030638) 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:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent94
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent58
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent129
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent39
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent5
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent124
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent4
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent63
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent54
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent42
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent126
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus159
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus32
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent107
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0RHO CL E G H601010012OMIM:136880Fundus albipunctatus107
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus47
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent32
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent66
HP:0030639HP:0030639Congenital stationary night blindness with abnormal fundus0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent104
HP:0030639HP:0030642Fundus albipunctatus1PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus.159
HP:0030639HP:0030642Fundus albipunctatus1RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus.32
HP:0030639HP:0030642Fundus albipunctatus1RHO CL E G H601010012OMIM:136880Fundus albipunctatus.107
HP:0030639HP:0030642Fundus albipunctatus1RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus.47


Genes (18) :CABP4 CACNA1F CACNA2D4 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 NYX PDE6B PRPH2 RDH5 RHO RLBP1 SAG SLC24A1 TRPM1

Diseases (2) :ORPHA:215 OMIM:136880
 

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