Epiphyseal dysplasia

Symptom Information:

Symptom ID: HPO:0002656
Synonyms:
Epiphyseal dysplasia [OMIM:Epiphyseal dysplasia]
Quality:
Cross references:
OMIM: "Epiphyseal dysplasia" [OMIM:Epiphyseal dysplasia]
Is a (Direct Parents):
HPO         Skeletal dysplasia
HPO         Abnormality of epiphysis morphology
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)
                   Epiphyseal dysplasia(HPO:0002656)
             Skeletal dysplasia(HPO:0002652)
                Epiphyseal dysplasia(HPO:0002656)
MedDRA:
Database Frequency: 25 / 7739
Resource:

All diseases associated with this symptom:

Autosomal recessive Stickler syndrome (Orphanet:250984)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS (OMIM:226950)
EPIPHYSEAL DYSPLASIA, BAUMANN TYPE (OMIM:610797)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 (OMIM:600969)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
IMAGe syndrome (Orphanet:85173)
Lowry-Wood syndrome (Orphanet:1824)
MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGEDAPPEARANCE (OMIM:248010)
MOVED TO 614732 (OMIM:300290)
Metatropic dysplasia (Orphanet:2635)
Mucopolysaccharidosis type 6 (Orphanet:583)
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, Beighton type (Orphanet:166011)
Multiple epiphyseal dysplasia, with miniepiphyses (Orphanet:166032)
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia (Orphanet:166029)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondyloepiphyseal dysplasia, MacDermot type (Orphanet:163668)
Stickler syndrome type 3 (Orphanet:166100)
TMEM165-CDG (Orphanet:314667)
Wolcott-Rallison syndrome (Orphanet:1667)