Term ID: 5864
Name: Pseudoarthrosis
Synonym: Pseudoarthroses
Definition: A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").
Comments:
Reference: HP:0005864
Genes and Diseases: Child Nodes: ........Congenital pseudoarthrosis of the clavicle (HP:0006585) ........Tibial pseudoarthrosis (HP:0009736) Sister Nodes: ..Abnormal diaphysis morphology (HP:0000940) ..Abnormal epiphysis morphology (HP:0005930) ..Abnormal humerus morphology (HP:0031095) ..Abnormal metaphysis morphology (HP:0000944) ..Abnormal morphology of ulna (HP:0040071) ..Broad long bones (HP:0005622) ..Crumpled long bones (HP:0006367) ..Fractures of the long bones (HP:0003084) ..Increased density of long bones (HP:0006392) ..obsolete Abnormal morphology of the radius (HP:0045009) ..Overtubulated long bones (HP:0006391) ..Periosteal thickening of long tubular bones (HP:0006465) ..Phocomelia (HP:0009829) ..Protuberances at ends of long bones (HP:0003105) ..Short long bone (HP:0003026) ..Slender long bone (HP:0003100) ..Thickened cortex of long bones (HP:0000935) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0005864 HP:0005864 Pseudoarthrosis 0 CCDC134 CL E G H 79879 26185 OMIM:619795 OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22 HP:0005864 HP:0005864 Pseudoarthrosis 0 EFNB1 CL E G H 1947 3226 ORPHA:1520 Craniofrontonasal dysplasia 27 HP:0005864 HP:0005864 Pseudoarthrosis 0 EFNB1 CL E G H 1947 3226 OMIM:304110 Craniofrontonasal syndrome 27 HP:0005864 HP:0005864 Pseudoarthrosis 0 FGFR1 CL E G H 2260 3688 OMIM:166250 Osteoglophonic dysplasia . 172 HP:0005864 HP:0005864 Pseudoarthrosis 0 MET CL E G H 4233 7029 OMIM:607278 Osteofibrous dysplasia, susceptibility to . 375 HP:0005864 HP:0005864 Pseudoarthrosis 0 MYF5 CL E G H 4617 7565 OMIM:618155 Ophthalmoplegia, external, with rib and vertebral anomalies . HP:0005864 HP:0005864 Pseudoarthrosis 0 NF1 CL E G H 4763 7765 OMIM:162200 Neurofibromatosis, type I 1952 HP:0005864 HP:0005864 Pseudoarthrosis 0 WNT7A CL E G H 7476 12786 OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency 13 HP:0005864 HP:0005864 Pseudoarthrosis 0 ZMPSTE24 CL E G H 10269 12877 OMIM:275210 Restrictive dermopathy, lethal 83 HP:0005864 HP:0006585 Congenital pseudoarthrosis of the clavicle 1 EFNB1 CL E G H 1947 3226 ORPHA:1520 Craniofrontonasal dysplasia HP:0040282 - Frequent 27 HP:0005864 HP:0006585 Congenital pseudoarthrosis of the clavicle 1 EFNB1 CL E G H 1947 3226 OMIM:304110 Craniofrontonasal syndrome . 27 HP:0005864 HP:0009736 Tibial pseudarthrosis 1 NF1 CL E G H 4763 7765 OMIM:162200 Neurofibromatosis, type I 1952 HP:0005864 HP:0006585 Congenital pseudoarthrosis of the clavicle 1 WNT7A CL E G H 7476 12786 OMIM:276820 Ulna and fibula, absence of, with severe limb deficiency . 13 HP:0005864 HP:0006585 Congenital pseudoarthrosis of the clavicle 1 ZMPSTE24 CL E G H 10269 12877 OMIM:275210 Restrictive dermopathy, lethal . 83
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
