Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormal autonomic nervous system physiology (HP:0012332)help
Parent Node:
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Miosis (HP:0000616)help
Parent Node:
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Ptosis (HP:0000508)help
..Starting node
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Horner syndrome (HP:0002277)help
Term ID: 2277
Name: Horner syndrome
Synonym: Horner's syndrome; Oculosympathetic palsy
Definition: An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
Comments:
Reference: HP:0002277
Genes and Diseases:
 
       Child Nodes:
........expandCongenital Horner syndrome (HP:0006837) help

 Sister Nodes: 
..expandBilateral ptosis (HP:0001488) help
..expandCongenital ptosis (HP:0007970) help
..expandProgressive ptosis (HP:0007838) help
..expandUnilateral ptosis (HP:0007687) 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:0002277HP:0002277Horner syndrome0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0002277HP:0002277Horner syndrome0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002277HP:0002277Horner syndrome0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0002277HP:0002277Horner syndrome0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0002277HP:0006837Congenital Horner syndrome1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0002277HP:0006837Congenital Horner syndrome1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002277HP:0006837Congenital Horner syndrome1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (4) :COL25A1 GNB2 KIF1B ZFHX4

Diseases (3) :ORPHA:91411 OMIM:619503 OMIM:256700
 

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