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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Multiple skeletal anomalies (HP:0005775)help
Term ID: 5775
Name: Multiple skeletal anomalies
Synonym:
Definition:
Comments:
Reference: HP:0005775
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
..expandSpondyloepimetaphyseal dysplasia (HP:0002651) help
..expandSpondyloepiphyseal dysplasia (HP:0002655) help
..expandSpondylometaphyseal dysplasia (HP:0002657) 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:0005775HP:0005775Multiple skeletal anomalies0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0005775HP:0005775Multiple skeletal anomalies0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040282 - Frequent445
HP:0005775HP:0005775Multiple skeletal anomalies0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0005775HP:0005775Multiple skeletal anomalies0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040281 - Very frequent46


Genes (4) :ANAPC1 RECQL4 STAC3 TRAPPC2

Diseases (4) :ORPHA:221008 ORPHA:221016 OMIM:255995 ORPHA:93284
 

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