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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Lateral clavicle hook (HP:0000895)help
Term ID: 895
Name: Lateral clavicle hook
Synonym: Handlebar clavicle; Hook-shaped clavicle; Hook-shaped collarbone; Hooked clavicle
Definition: An excessive upward convexity of the lateral clavicle.
Comments:
Reference: HP:0000895
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the clavicles (HP:0006710) help
..expandBroad clavicles (HP:0000916) help
..expandClavicular sclerosis (HP:0100923) 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:0000895HP:0000895Lateral clavicle hook0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0000895HP:0000895Lateral clavicle hook0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0000895HP:0000895Lateral clavicle hook0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI
HP:0000895HP:0000895Lateral clavicle hook0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0000895HP:0000895Lateral clavicle hook0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0000895HP:0000895Lateral clavicle hook0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0000895HP:0000895Lateral clavicle hook0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0000895HP:0000895Lateral clavicle hook0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0000895HP:0000895Lateral clavicle hook0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0000895HP:0000895Lateral clavicle hook0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly101
HP:0000895HP:0000895Lateral clavicle hook0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000895HP:0000895Lateral clavicle hook0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0000895HP:0000895Lateral clavicle hook0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000895HP:0000895Lateral clavicle hook0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0000895HP:0000895Lateral clavicle hook0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0000895HP:0000895Lateral clavicle hook0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9


Genes (15) :CDT1 DYNC2H1 DYNC2I1 DYNC2I2 DYNLT2B IFT172 IFT81 INPPL1 INTU NEK1 ORC1 RBM8A SCARF2 SKI SLC35D1

Diseases (15) :OMIM:613804 OMIM:613091 OMIM:615503 OMIM:615633 OMIM:617405 OMIM:615630 OMIM:617895 ORPHA:3144 OMIM:617925 OMIM:263520 OMIM:224690 OMIM:274000 OMIM:600920 OMIM:182212 OMIM:269250
 

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