Human Phenotype Ontology 
Grandparent Node:
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Abnormal long bone morphology (HP:0011314)help
Parent Node:
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Aplasia/Hypoplasia of the clavicles (HP:0006710)help
Parent Node:
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Pseudoarthrosis (HP:0005864)help
..Starting node
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Congenital pseudoarthrosis of the clavicle (HP:0006585)help
Term ID: 6585
Name: Congenital pseudoarthrosis of the clavicle
Synonym: Bipartite clavicle; Clavicle pseudoarthrosis; Pseudoarthrosis of clavicle
Definition: The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.
Comments:
Reference: HP:0006585
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandTibial pseudarthrosis (HP:0009736) 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:0006585HP:0006585Congenital pseudoarthrosis of the clavicle0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0006585HP:0006585Congenital pseudoarthrosis of the clavicle0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0006585HP:0006585Congenital pseudoarthrosis of the clavicle0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0006585HP:0006585Congenital pseudoarthrosis of the clavicle0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83


Genes (3) :EFNB1 WNT7A ZMPSTE24

Diseases (4) :ORPHA:1520 OMIM:304110 OMIM:276820 OMIM:275210
 

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