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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Thin clavicles (HP:0006645)help
Term ID: 6645
Name: Thin clavicles
Synonym: Thin collarbone
Definition: Abnormally reduced diameter (cross section) of the clavicles.
Comments:
Reference: HP:0006645
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
..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
..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:0006645HP:0006645Thin clavicles0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0006645HP:0006645Thin clavicles0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0006645HP:0006645Thin clavicles0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0006645HP:0006645Thin clavicles0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type IIHP:0040283 - Occasional531
HP:0006645HP:0006645Thin clavicles0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040282 - Frequent52
HP:0006645HP:0006645Thin clavicles0TBCE CL E G H690511582OMIM:244460Kenny-caffey syndrome, type 1.52
HP:0006645HP:0006645Thin clavicles0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0006645HP:0006645Thin clavicles0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0006645HP:0025681Distal clavicular thinning1HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome


Genes (6) :COL11A1 HHAT LMNA PCNT TBCE ZMPSTE24

Diseases (7) :OMIM:228520 OMIM:600092 ORPHA:1662 OMIM:210720 ORPHA:93324 OMIM:244460 OMIM:275210
 

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