Human Phenotype Ontology 
Grandparent Node:
expandAbnormal metaphysis morphology (HP:0000944)help
Parent Node:
expandMetaphyseal widening (HP:0003016)help
..Starting node
..expandDumbbell-shaped long bone (HP:0000947)help
Term ID: 947
Name: Dumbbell-shaped long bone
Synonym: Dumbbell widening of long bone metaphyses; Dumbbell-shaped long bone
Definition: An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
Comments:
Reference: HP:0000947
Genes and Diseases:
 
       Child Nodes:
........expandDumbbell-shaped humerus (HP:0005009) help
........expandDumbbell-shaped femur (HP:0006375) help

 Sister Nodes: 
..expandFlared metaphysis (HP:0003015) help
..expandUpper limb metaphyseal widening (HP:0003856) help
..expandWidened proximal tibial metaphyses (HP:0005028) 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:0000947HP:0000947Dumbbell-shaped long bone0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0000947HP:0000947Dumbbell-shaped long bone0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0000947HP:0000947Dumbbell-shaped long bone0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0000947HP:0000947Dumbbell-shaped long bone0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0000947HP:0000947Dumbbell-shaped long bone0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040282 - Frequent284
HP:0000947HP:0000947Dumbbell-shaped long bone0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0000947HP:0000947Dumbbell-shaped long bone0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040283 - Occasional18
HP:0000947HP:0000947Dumbbell-shaped long bone0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0000947HP:0000947Dumbbell-shaped long bone0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0000947HP:0000947Dumbbell-shaped long bone0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040283 - Occasional9
HP:0000947HP:0000947Dumbbell-shaped long bone0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0000947HP:0000947Dumbbell-shaped long bone0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0000947HP:0005009Dumbbell-shaped humerus1 CL E G H
HP:0000947HP:0006375Dumbbell-shaped femur1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0000947HP:0006375Dumbbell-shaped femur1COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0000947HP:0006375Dumbbell-shaped femur1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040283 - Occasional284
HP:0000947HP:0006375Dumbbell-shaped femur1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0000947HP:0006375Dumbbell-shaped femur1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II.166
HP:0000947HP:0006375Dumbbell-shaped femur1TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214


Genes (7) :COL11A1 COL11A2 COL2A1 INPPL1 SLC26A2 SLC35D1 TRPV4

Diseases (11) :ORPHA:440354 OMIM:228520 ORPHA:1427 OMIM:156550 ORPHA:485 OMIM:151210 ORPHA:3144 ORPHA:56304 OMIM:256050 OMIM:269250 OMIM:156530
 

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