Human Phenotype Ontology 
Grandparent Node:
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Synostosis of joints (HP:0100240)help
Grandparent Node:
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Vertebral segmentation defect (HP:0003422)help
Parent Node:
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Vertebral fusion (HP:0002948)help
..Starting node
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Abnormal vertebral segmentation and fusion (HP:0005640)help
Term ID: 5640
Name: Abnormal vertebral segmentation and fusion
Synonym:
Definition:
Comments:
Reference: HP:0005640
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnterior vertebral fusion (HP:0004557) help
..expandBlock vertebrae (HP:0003305) help
..expandFused cervical vertebrae (HP:0002949) help
..expandFused lumbar vertebrae (HP:0030040) help
..expandFused thoracic vertebrae (HP:0030039) help
..expandPosterior fusion of lumbosacral vertebrae (HP:0005626) help
..expandSacralization of the fifth lumbar vertebra (HP:0030125) 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:0005640HP:0005640Abnormal vertebral segmentation and fusion0BMPER CL E G H16866724154ORPHA:66637DiaphanospondylodysostosisHP:0040281 - Very frequent78
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040282 - Frequent35
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040283 - Occasional493
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent3
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent7
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent64
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040282 - Frequent63
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent5
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040282 - Frequent86
HP:0005640HP:0005640Abnormal vertebral segmentation and fusion0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent111


Genes (11) :BMPER CHN1 FGD1 FLNA FUZ GDF3 GDF6 MAFB MEOX1 SALL4 VANGL1

Diseases (8) :ORPHA:66637 ORPHA:233 ORPHA:915 ORPHA:90650 ORPHA:90652 ORPHA:3027 ORPHA:2345 OMIM:118100
 

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