Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal skeletal morphology (HP:0011842)help
Parent Node:
expand
Skeletal dysplasia (HP:0002652)help
..Starting node
..expand
Spondyloepiphyseal dysplasia (HP:0002655)help
Term ID: 2655
Name: Spondyloepiphyseal dysplasia
Synonym: Spondyloepiphyseal dysplasia tarda
Definition: A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Comments:
Reference: HP:0002655
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
..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:0002655HP:0002655Spondyloepiphyseal dysplasia0ACAN CL E G H176319ORPHA:93283Spondyloepiphyseal dysplasia, Kimberley typeHP:0040281 - Very frequent34
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0ACAN CL E G H176319OMIM:608361Spondyloepiphyseal dysplasia, Kimberley type.34
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040281 - Very frequent
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II.215
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0COL2A1 CL E G H12802200OMIM:616583Spondyloepiphyseal dysplasia, Stanescu type.284
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0MBTPS1 CL E G H872015456OMIM:618392Spondyloepiphyseal dysplasia, Kondo-Fu type.
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome.15
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0002655HP:0002655Spondyloepiphyseal dysplasia0TRPV4 CL E G H5934118083OMIM:184095Spondyloepiphyseal dysplasia, Maroteaux type.214


Genes (13) :ACAN CCN6 CHST3 COL11A1 COL2A1 IARS2 MBTPS1 NMNAT1 RNU4ATAC RPL10 SMARCAL1 TRAPPC2 TRPV4

Diseases (20) :ORPHA:93283 OMIM:608361 ORPHA:1159 OMIM:143095 OMIM:604841 OMIM:183900 OMIM:616583 OMIM:271700 OMIM:108300 ORPHA:436174 OMIM:618392 OMIM:619260 OMIM:616651 ORPHA:353298 OMIM:300998 ORPHA:459070 OMIM:242900 ORPHA:1830 OMIM:313400 OMIM:184095
 

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