Human Phenotype Ontology 
Grandparent Node:
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Abnormal appendicular skeleton morphology (HP:0011844)help
Parent Node:
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Abnormal long bone morphology (HP:0011314)help
..Starting node
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Overtubulated long bones (HP:0006391)help
Term ID: 6391
Name: Overtubulated long bones
Synonym:
Definition: Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.
Comments:
Reference: HP:0006391
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal diaphysis morphology (HP:0000940) help
..expandAbnormal epiphysis morphology (HP:0005930) help
..expandAbnormal humerus morphology (HP:0031095) help
..expandAbnormal metaphysis morphology (HP:0000944) help
..expandAbnormal morphology of ulna (HP:0040071) help
..expandBroad long bones (HP:0005622) help
..expandCrumpled long bones (HP:0006367) help
..expandFractures of the long bones (HP:0003084) help
..expandIncreased density of long bones (HP:0006392) help
..expandobsolete Abnormal morphology of the radius (HP:0045009) help
..expandPeriosteal thickening of long tubular bones (HP:0006465) help
..expandPhocomelia (HP:0009829) help
..expandProtuberances at ends of long bones (HP:0003105) help
..expandPseudoarthrosis (HP:0005864) help
..expandShort long bone (HP:0003026) help
..expandSlender long bone (HP:0003100) help
..expandThickened cortex of long bones (HP:0000935) 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:0006391HP:0006391Overtubulated long bones0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare5
HP:0006391HP:0006391Overtubulated long bones0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare13
HP:0006391HP:0006391Overtubulated long bones0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare7
HP:0006391HP:0006391Overtubulated long bones0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0006391HP:0006391Overtubulated long bones0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83


Genes (5) :ATP6V1B2 KCNH1 KCNN3 LMNA ZMPSTE24

Diseases (3) :ORPHA:3473 OMIM:619793 OMIM:275210
 

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