Human Phenotype Ontology 
Grandparent Node:
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Abnormal thorax morphology (HP:0000765)help
Parent Node:
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Abnormal clavicle morphology (HP:0000889)help
..Starting node
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Broad clavicles (HP:0000916)help
Term ID: 916
Name: Broad clavicles
Synonym: Broad collarbone
Definition: Increased width (cross-sectional diameter) of the clavicles.
Comments:
Reference: HP:0000916
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the clavicles (HP:0006710) help
..expandClavicular sclerosis (HP:0100923) help
..expandLateral clavicle hook (HP:0000895) help
..expandLong clavicles (HP:0000890) help
..expandMedial widening of clavicles (HP:0006599) help
..expandProgressive clavicular acroosteolysis (HP:0000905) help
..expandStraight clavicles (HP:0006587) help
..expandThin clavicles (HP:0006645) help
..expandUndulate clavicles (HP:0010560) 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:0000916HP:0000916Broad clavicles0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000916HP:0000916Broad clavicles0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000916HP:0000916Broad clavicles0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040282 - Frequent2
HP:0000916HP:0000916Broad clavicles0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040282 - Frequent64
HP:0000916HP:0000916Broad clavicles0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0000916HP:0000916Broad clavicles0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000916HP:0000916Broad clavicles0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0000916HP:0000916Broad clavicles0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome.134
HP:0000916HP:0000916Broad clavicles0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000916HP:0000916Broad clavicles0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0000916HP:0000916Broad clavicles0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13


Genes (11) :ARSK ATP7A MMP14 MMP2 MYSM1 PTDSS1 PTH1R SH3PXD2B SOST TRIP11 WNT7A

Diseases (10) :OMIM:619698 OMIM:304150 ORPHA:371428 ORPHA:508542 OMIM:151050 ORPHA:50945 OMIM:249420 OMIM:269500 OMIM:200600 OMIM:276820
 

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