Abnormality of epiphysis morphology

Symptom Information:

Symptom ID: HPO:0005930
Synonyms:
Epiphyseal abnormality [HPO:0005930]
Epiphyseal anomaly [Orphanet:45750]
Quality:
Cross references:
Orphanet:45750 "Epiphyseal anomaly" [Orphanet:45750]
Is a (Direct Parents):
HPO         Abnormality of long bone morphology
Orphanet Abnormality of the skeletal system
HPO         Multinucleated giant chondrocytes in epiphyseal cartilage
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormality of epiphysis morphology(HPO:0005930)
MedDRA:
Database Frequency: 119 / 7739
Resource:

All diseases associated with this symptom:

17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
48,XXXY syndrome (Orphanet:96263)
49,XXXXY syndrome (Orphanet:96264)
Absence deformity of leg - cataract (Orphanet:2310)
Acheiropodia (Orphanet:931)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acromicric dysplasia (Orphanet:969)
Albers-Schönberg osteopetrosis (Orphanet:53)
Angel-shaped phalango-epiphyseal dysplasia (Orphanet:63442)
Aromatase deficiency (Orphanet:91)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Brachydactylous dwarfism, Mseleni type (Orphanet:2619)
Brittle cornea syndrome (Orphanet:90354)
Buschke-Ollendorff syndrome (Orphanet:1306)
CHILD syndrome (Orphanet:139)
CODAS syndrome (Orphanet:1458)
Cartilage-hair hypoplasia (Orphanet:175)
Catel-Manzke syndrome (Orphanet:1388)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Chronic recurrent multifocal osteomyelitis (Orphanet:324964)
Cleidocranial dysplasia (Orphanet:1452)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Congenital hypothyroidism (Orphanet:442)
Coxo-podo-patellar syndrome (Orphanet:1509)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Diastrophic dwarfism (Orphanet:628)
Distal monosomy 6p (Orphanet:96125)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dysostosis, Stanescu type (Orphanet:1798)
Dysplasia epiphysealis hemimelica (Orphanet:1822)
Ear-patella-short stature syndrome (Orphanet:2554)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Erdheim-Chester disease (Orphanet:35687)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Focal dermal hypoplasia (Orphanet:2092)
GM1 gangliosidosis (Orphanet:354)
Geleophysic dysplasia (Orphanet:2623)
Geroderma osteodysplastica (Orphanet:2078)
Hall-Riggs syndrome (Orphanet:2107)
Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970)
Hip dysplasia, Beukes type (Orphanet:2114)
Hurler syndrome (Orphanet:93473)
Infantile Refsum disease (Orphanet:772)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Kniest dysplasia (Orphanet:485)
Langer mesomelic dysplasia (Orphanet:2632)
Leri pleonosteosis (Orphanet:2900)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Lethal recessive chondrodysplasia (Orphanet:1423)
Lowry-Wood syndrome (Orphanet:1824)
Léri-Weill dyschondrosteosis (Orphanet:240)
Madelung deformity (Orphanet:35688)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Metachondromatosis (Orphanet:2499)
Metaphyseal anadysplasia (Orphanet:1040)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 6 (Orphanet:583)
Multicentric carpo-tarsal osteolysis with or without nephropathy (Orphanet:2774)
Multiple epiphyseal dysplasia (Orphanet:251)
Multiple epiphyseal dysplasia due to collagen 9 anomaly (Orphanet:166002)
Multiple epiphyseal dysplasia type 1 (Orphanet:93308)
Multiple epiphyseal dysplasia type 4 (Orphanet:93307)
Multiple epiphyseal dysplasia type 5 (Orphanet:93311)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Multiple epiphyseal dysplasia, Beighton type (Orphanet:166011)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Myhre syndrome (Orphanet:2588)
Nasu-Hakola disease (Orphanet:2770)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Oculocerebrorenal syndrome (Orphanet:534)
Opsismodysplasia (Orphanet:2746)
Osteopetrosis (Orphanet:2781)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Pachydermoperiostosis (Orphanet:2796)
Parastremmatic dwarfism (Orphanet:2646)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Pseudoachondroplasia (Orphanet:750)
Pycnodysostosis (Orphanet:763)
Refsum disease (Orphanet:773)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
SPONASTRIME dysplasia (Orphanet:93357)
Satoyoshi syndrome (Orphanet:3130)
Say-Barber-Miller syndrome (Orphanet:3132)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Schwartz-Jampel syndrome (Orphanet:800)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet:93356)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia (Orphanet:253)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondyloepiphyseal dysplasia, Kimberley type (Orphanet:93283)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Thiemann disease, familial form (Orphanet:3314)
Torg-Winchester syndrome (Orphanet:3460)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
Zunich-Kaye syndrome (Orphanet:3474)