Multiple epiphyseal dysplasia

Symptom Information:

Symptom ID: HPO:0002654
Synonyms:
Multiple epiphyseal dysplasia [OMIM:Multiple epiphyseal dysplasia]
Multiple epiphyseal dysplasia [MedDRA:10028197]
Quality:
Cross references:
OMIM: "Multiple epiphyseal dysplasia" [OMIM:Multiple epiphyseal dysplasia]
Is a (Direct Parents):
MedDRA Musculoskeletal disorders congenital NEC
HPO         Skeletal dysplasia
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)
             Skeletal dysplasia(HPO:0002652)
                Multiple epiphyseal dysplasia(HPO:0002654)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal disorders congenital NEC(MedDRA:10029513)
          Multiple epiphyseal dysplasia(HPO:0002654)
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
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, Lowry type (Orphanet:166016)
REFSUM DISEASE, CLASSIC (OMIM:266500)
Refsum disease (Orphanet:773)
Wolcott-Rallison syndrome (Orphanet:1667)