Human Phenotype Ontology 
Grandparent Node:
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Strabismus (HP:0000486)help
Parent Node:
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Incomitant strabismus (HP:0025068)help
..Starting node
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Duane anomaly (HP:0009921)help
Term ID: 9921
Name: Duane anomaly
Synonym: Globe retraction and deviation on adduction; Limited eye motility from Duane anomaly; Limited eye movement from Duane anomaly
Definition: A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction
Comments:
Reference: HP:0009921
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBrown anomaly (HP:0031622) help
..expandDouble depressor palsy (HP:0020042) help
..expandDouble elevator palsy (HP:0020041) help
..expandHorizontal incomitant strabismus (HP:0020044) help
..expandVertical incomitant strabismus (HP:0020043) 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:0009921HP:0009921Duane anomaly0ACKR3 CL E G H5700723692OMIM:619215OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0009921HP:0009921Duane anomaly0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0009921HP:0009921Duane anomaly0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0009921HP:0009921Duane anomaly0CHN1 CL E G H11231943OMIM:604356DUANE RETRACTION SYNDROME 2; DURS235
HP:0009921HP:0009921Duane anomaly0COL25A1 CL E G H8457018603OMIM:616219Fibrosis of extraocular muscles, congenital, 53
HP:0009921HP:0009921Duane anomaly0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0009921HP:0009921Duane anomaly0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0009921HP:0009921Duane anomaly0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0009921HP:0009921Duane anomaly0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0009921HP:0009921Duane anomaly0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0009921HP:0009921Duane anomaly0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0009921HP:0009921Duane anomaly0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0009921HP:0009921Duane anomaly0MAFB CL E G H99356408OMIM:617041Duane retraction syndrome 3 with or without deafness63
HP:0009921HP:0009921Duane anomaly0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0009921HP:0009921Duane anomaly0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0009921HP:0009921Duane anomaly0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0009921HP:0009921Duane anomaly0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0009921HP:0009921Duane anomaly0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1HP:0040283 - Occasional124
HP:0009921HP:0009921Duane anomaly0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0009921HP:0009921Duane anomaly0UBA2 CL E G H1005430661OMIM:619959
HP:0009921HP:0009921Duane anomaly0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA


Genes (21) :ACKR3 ARX CCNQ CHN1 COL25A1 CSPP1 DNM1L GJA5 GJA8 HOXA1 KCNN2 KIAA0586 MAFB MED13 MN1 OPA1 PIEZO2 SALL1 SALL4 UBA2 ZMIZ1

Diseases (18) :OMIM:619215 OMIM:300215 OMIM:300707 OMIM:604356 OMIM:616219 ORPHA:397715 ORPHA:98673 OMIM:612474 OMIM:601536 OMIM:619724 OMIM:617041 OMIM:618009 OMIM:618774 OMIM:108145 OMIM:107480 OMIM:607323 OMIM:619959 OMIM:618659
 

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