Human Phenotype Ontology 
Grandparent Node:
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Joint dislocation (HP:0001373)help
Parent Node:
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Abnormal shoulder morphology (HP:0003043)help
Parent Node:
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Upper extremity joint dislocation (HP:0030310)help
..Starting node
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Shoulder dislocation (HP:0003834)help
Term ID: 3834
Name: Shoulder dislocation
Synonym: Shoulder dislocation
Definition: A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.
Comments:
Reference: HP:0003834
Genes and Diseases:
 
       Child Nodes:
........expandShoulder subluxation (HP:0003835) help
........expandRecurrent shoulder dislocation (HP:0031610) help

 Sister Nodes: 
..expandDislocated wrist (HP:0003994) help
..expandElbow dislocation (HP:0003042) 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:0003834HP:0003834Shoulder dislocation0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0003834HP:0003834Shoulder dislocation0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0003834HP:0003834Shoulder dislocation0ARF1 CL E G H375652ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional
HP:0003834HP:0003834Shoulder dislocation0ARFGEF2 CL E G H1056415853ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional179
HP:0003834HP:0003834Shoulder dislocation0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0003834HP:0003834Shoulder dislocation0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0003834HP:0003834Shoulder dislocation0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0003834HP:0003834Shoulder dislocation0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0003834HP:0003834Shoulder dislocation0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0003834HP:0003834Shoulder dislocation0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0003834HP:0003834Shoulder dislocation0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0003834HP:0003834Shoulder dislocation0ERMARD CL E G H5578021056ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional36
HP:0003834HP:0003834Shoulder dislocation0FLNA CL E G H23163754ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional493
HP:0003834HP:0003834Shoulder dislocation0MAP1B CL E G H41316836ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional
HP:0003834HP:0003834Shoulder dislocation0NEDD4L CL E G H233277728ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional30
HP:0003834HP:0003834Shoulder dislocation0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0003834HP:0003834Shoulder dislocation0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0003834HP:0003834Shoulder dislocation0TMTC3 CL E G H16041826899ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional5
HP:0003834HP:0031610Recurrent shoulder dislocation1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243


Genes (16) :AEBP1 ARF1 ARFGEF2 B3GAT3 CHST3 COL1A1 COL1A2 COL5A1 COL5A2 ERMARD FLNA MAP1B NEDD4L NGLY1 SALL4 TMTC3

Diseases (9) :ORPHA:536532 OMIM:618000 ORPHA:98892 OMIM:245600 OMIM:143095 ORPHA:287 ORPHA:230851 ORPHA:404454 OMIM:607323
 

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