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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Spondyloepimetaphyseal dysplasia (HP:0002651)help
Term ID: 2651
Name: Spondyloepimetaphyseal dysplasia
Synonym:
Definition:
Comments:
Reference: HP:0002651
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
..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:0002651HP:0002651Spondyloepimetaphyseal dysplasia0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type.34
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent38
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040281 - Very frequent65
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040282 - Frequent14
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes.20
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0002651HP:0002651Spondyloepimetaphyseal dysplasia0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.


Genes (17) :ACAN AIFM1 B3GALT6 BGN COL2A1 DDR2 DDRGK1 DYM EXOC6B IARS2 KIF22 MATN3 MMP13 NANS PAPSS2 RSPRY1 TONSL

Diseases (19) :OMIM:612813 OMIM:300232 ORPHA:536467 OMIM:271640 OMIM:300106 OMIM:184250 OMIM:271665 OMIM:602557 ORPHA:239 OMIM:618395 OMIM:616007 OMIM:603546 ORPHA:93360 OMIM:608728 OMIM:602111 OMIM:610442 OMIM:612847 ORPHA:457395 OMIM:271510
 

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