Human Phenotype Ontology 
Grandparent Node:
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Abnormal clavicle morphology (HP:0000889)help
Grandparent Node:
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Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)help
Parent Node:
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Aplasia/Hypoplasia of the clavicles (HP:0006710)help
..Starting node
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Aplastic clavicle (HP:0006660)help
Term ID: 6660
Name: Aplastic clavicle
Synonym: Absent clavicles; Absent collarbone; Aplastic clavicles
Definition: Absence of the clavicles as a developmental defect.
Comments:
Reference: HP:0006660
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital pseudoarthrosis of the clavicle (HP:0006585) help
..expandMidclavicular aplasia (HP:0006638) help
..expandShort clavicles (HP:0000894) 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:0006660HP:0006660Aplastic clavicle0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040283 - Occasional192
HP:0006660HP:0006660Aplastic clavicle0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent9
HP:0006660HP:0006660Aplastic clavicle0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent31
HP:0006660HP:0006660Aplastic clavicle0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent50
HP:0006660HP:0006660Aplastic clavicle0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS39
HP:0006660HP:0006660Aplastic clavicle0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0006660HP:0006660Aplastic clavicle0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent3
HP:0006660HP:0006660Aplastic clavicle0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0006660HP:0006660Aplastic clavicle0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent53
HP:0006660HP:0006660Aplastic clavicle0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent21
HP:0006660HP:0006660Aplastic clavicle0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040282 - Frequent39
HP:0006660HP:0006660Aplastic clavicle0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040282 - Frequent36
HP:0006660HP:0006660Aplastic clavicle0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0006660HP:0006660Aplastic clavicle0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0006660HP:0006660Aplastic clavicle0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0006660HP:0006660Aplastic clavicle0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0006660HP:0006660Aplastic clavicle0SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040283 - Occasional86


Genes (17) :ATP7A CDC45 CDC6 CDT1 CTSK FIG4 GMNN KIAA0586 ORC1 ORC4 ORC6 PIGL PTDSS1 PTH1R RNU4ATAC RUNX2 SALL4

Diseases (11) :ORPHA:198 ORPHA:2554 OMIM:265800 OMIM:216340 OMIM:616546 ORPHA:3474 ORPHA:2658 ORPHA:50945 ORPHA:2636 OMIM:119600 ORPHA:2307
 

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