Human Phenotype Ontology 
Grandparent Node:
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Abnormal involuntary eye movements (HP:0012547)help
Parent Node:
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Nystagmus (HP:0000639)help
..Starting node
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Congenital nystagmus (HP:0006934)help
Term ID: 6934
Name: Congenital nystagmus
Synonym: Nystagmus, congenital
Definition: Nystagmus dating from or present at birth.
Comments:
Reference: HP:0006934
Genes and Diseases:
 
       Child Nodes:
........expandHorizontal pendular nystagmus (HP:0007811) help
........expandCongenital horizontal nystagmus (HP:0007859) help

 Sister Nodes: 
..expandDivergence nystagmus (HP:0030691) help
..expandGaze-evoked nystagmus (HP:0000640) help
..expandHorizontal nystagmus (HP:0000666) help
..expandNystagmus-induced head nodding (HP:0001361) help
..expandPendular nystagmus (HP:0012043) help
..expandRotary nystagmus (HP:0001583) help
..expandVertical nystagmus (HP:0010544) help
..expandVestibular nystagmus (HP:0010542) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006934HP:0006934Congenital nystagmus0BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM128549604310
HP:0006934HP:0006934Congenital nystagmus0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1958079300628
HP:0006934HP:0006934Congenital nystagmus0PAX6 CL E G H5080136520Foveal hypoplasia and presenile cataract syndrome136520C3805604OMIM15718620607108
HP:0006934HP:0006934Congenital nystagmus0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17512423602280
HP:0006934HP:0006934Congenital nystagmus1BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM128549604310
HP:0006934HP:0006934Congenital nystagmus1FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1958079300628
HP:0006934HP:0006934Congenital nystagmus1PAX6 CL E G H5080136520Foveal hypoplasia and presenile cataract syndrome136520C3805604OMIM15718620607108
HP:0006934HP:0006934Congenital nystagmus1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17512423602280
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006934HP:0006934Congenital nystagmus0LRP5 CL E G H40412788ORPHA02216697603506
HP:0006934HP:0006934Congenital nystagmus0TBC1D24 CL E G H5746579500ORPHA05629203613577
HP:0006934HP:0006934Congenital nystagmus1LRP5 CL E G H40412788ORPHA02216697603506
HP:0006934HP:0006934Congenital nystagmus1TBC1D24 CL E G H5746579500ORPHA05629203613577


Genes (10) :ADAR ATP6 BLOC1S6 CNGB3 FRMD7 LRP5 NUP62 PAX6 TBC1D24 TULP1

Diseases (9) :614171 310700 2788 136520 79500 613843 225154 262300 601813
 

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