Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal morphology (HP:0011842)help
Parent Node:
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Abnormal epiphysis morphology (HP:0005930)help
Parent Node:
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Skeletal dysplasia (HP:0002652)help
..Starting node
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Epiphyseal dysplasia (HP:0002656)help
Term ID: 2656
Name: Epiphyseal dysplasia
Synonym: Abnormal development of end part of bone; Abnormal development of the ends of long bones in arms and legs
Definition:
Comments:
Reference: HP:0002656
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDiaphyseal dysplasia (HP:0100252) 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
..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:0002656HP:0002656Epiphyseal dysplasia0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0002656HP:0002656Epiphyseal dysplasia0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0002656HP:0002656Epiphyseal dysplasia0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0002656HP:0002656Epiphyseal dysplasia0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0002656HP:0002656Epiphyseal dysplasia0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0002656HP:0002656Epiphyseal dysplasia0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent215
HP:0002656HP:0002656Epiphyseal dysplasia0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0002656HP:0002656Epiphyseal dysplasia0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0002656HP:0002656Epiphyseal dysplasia0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III.222
HP:0002656HP:0002656Epiphyseal dysplasia0COL2A1 CL E G H12802200OMIM:132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness.284
HP:0002656HP:0002656Epiphyseal dysplasia0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent110
HP:0002656HP:0002656Epiphyseal dysplasia0COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0002656HP:0002656Epiphyseal dysplasia0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent110
HP:0002656HP:0002656Epiphyseal dysplasia0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2.110
HP:0002656HP:0002656Epiphyseal dysplasia0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent137
HP:0002656HP:0002656Epiphyseal dysplasia0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy.137
HP:0002656HP:0002656Epiphyseal dysplasia0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0002656HP:0002656Epiphyseal dysplasia0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002656HP:0002656Epiphyseal dysplasia0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0002656HP:0002656Epiphyseal dysplasia0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0002656HP:0002656Epiphyseal dysplasia0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0002656HP:0002656Epiphyseal dysplasia0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0002656HP:0002656Epiphyseal dysplasia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0002656HP:0002656Epiphyseal dysplasia0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0002656HP:0002656Epiphyseal dysplasia0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0002656HP:0002656Epiphyseal dysplasia0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040281 - Very frequent14
HP:0002656HP:0002656Epiphyseal dysplasia0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0002656HP:0002656Epiphyseal dysplasia0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent4
HP:0002656HP:0002656Epiphyseal dysplasia0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0002656HP:0002656Epiphyseal dysplasia0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 5.32
HP:0002656HP:0002656Epiphyseal dysplasia0NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type.53
HP:0002656HP:0002656Epiphyseal dysplasia0PTH1R CL E G H57459608ORPHA:79106Eiken syndromeHP:0040281 - Very frequent58
HP:0002656HP:0002656Epiphyseal dysplasia0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040281 - Very frequent15
HP:0002656HP:0002656Epiphyseal dysplasia0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0002656HP:0002656Epiphyseal dysplasia0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0002656HP:0002656Epiphyseal dysplasia0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0002656HP:0002656Epiphyseal dysplasia0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0002656HP:0002656Epiphyseal dysplasia0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214


Genes (31) :ARSB B3GALT6 CANT1 CDKN1C COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP DPYD DYM EIF2AK3 EXTL3 FLNB GEMIN4 GNS HSPA9 KIF22 KIF7 LOXL3 LTBP3 MATN3 NPR2 PTH1R RNU4ATAC SLC26A2 TMEM165 TRPV4 XYLT1

Diseases (34) :OMIM:253200 OMIM:615349 OMIM:271640 OMIM:617719 OMIM:614732 ORPHA:250984 OMIM:215150 ORPHA:1427 OMIM:184840 OMIM:132450 OMIM:614134 OMIM:600204 OMIM:600969 OMIM:132400 ORPHA:1675 ORPHA:239 OMIM:226980 OMIM:617425 OMIM:272460 OMIM:617913 OMIM:252940 OMIM:616854 ORPHA:93360 OMIM:607131 OMIM:617809 OMIM:607078 OMIM:615923 ORPHA:79106 ORPHA:1824 ORPHA:353298 OMIM:226900 OMIM:614727 OMIM:156530 OMIM:615777
 

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