Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal morphology (HP:0011842)help
Parent Node:
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Skeletal dysplasia (HP:0002652)help
..Starting node
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Spondylometaphyseal dysplasia (HP:0002657)help
Term ID: 2657
Name: Spondylometaphyseal dysplasia
Synonym:
Definition:
Comments:
Reference: HP:0002657
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDiaphyseal dysplasia (HP:0100252) help
..expandEpiphyseal dysplasia (HP:0002656) help
..expandLethal skeletal dysplasia (HP:0005716) help
..expandMetaphyseal dysplasia (HP:0100255) help
..expandMultiple epiphyseal dysplasia (HP:0002654) help
..expandMultiple skeletal anomalies (HP:0005775) help
..expandSpondyloepimetaphyseal dysplasia (HP:0002651) help
..expandSpondyloepiphyseal dysplasia (HP:0002655) 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:0002657HP:0002657Spondylometaphyseal dysplasia0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0002657HP:0002657Spondylometaphyseal dysplasia0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0002657HP:0002657Spondylometaphyseal dysplasia0COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0002657HP:0002657Spondylometaphyseal dysplasia0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.284
HP:0002657HP:0002657Spondylometaphyseal dysplasia0FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.9
HP:0002657HP:0002657Spondylometaphyseal dysplasia0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0002657HP:0002657Spondylometaphyseal dysplasia0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0002657HP:0002657Spondylometaphyseal dysplasia0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0002657HP:0002657Spondylometaphyseal dysplasia0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0002657HP:0002657Spondylometaphyseal dysplasia0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0002657HP:0002657Spondylometaphyseal dysplasia0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type.214


Genes (9) :ACP5 CFAP410 COL2A1 FN1 GPX4 PAM16 PCYT1A TRIP11 TRPV4

Diseases (10) :OMIM:607944 OMIM:602271 ORPHA:85198 OMIM:184255 OMIM:250220 ORPHA:93317 OMIM:613320 OMIM:608940 OMIM:184260 OMIM:184252
 

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