Spondyloepiphyseal dysplasia

Symptom Information:

Symptom ID: HPO:0002655
Synonyms:
Spondyloepiphyseal dysplasia tarda [HPO:0002655]
Spondyloepiphyseal dysplasia [OMIM:Spondyloepiphyseal dysplasia]
Spondyloepiphyseal dysplasia tarda [OMIM:Spondyloepiphyseal dysplasia tarda]
Spondyloepiphyseal dysplasia (SED) [OMIM:Spondyloepiphyseal dysplasia (SED)]
Spondyloepiphyseal dysplasia [MedDRA:10062920]
Quality:
Cross references:
OMIM: "Spondyloepiphyseal dysplasia" [OMIM:Spondyloepiphyseal dysplasia]
OMIM: "Spondyloepiphyseal dysplasia tarda" [OMIM:Spondyloepiphyseal dysplasia tarda]
OMIM: "Spondyloepiphyseal dysplasia (SED)" [OMIM:Spondyloepiphyseal dysplasia (SED)]
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)
                Spondyloepiphyseal dysplasia(HPO:0002655)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal disorders congenital NEC(MedDRA:10029513)
          Spondyloepiphyseal dysplasia(HPO:0002655)
Database Frequency: 21 / 7739
Resource:

All diseases associated with this symptom:

CHST3-related skeletal dysplasia (Orphanet:263463)
MORQUIO SYNDROME C (OMIM:252300)
Mucopolysaccharidosis type 4 (Orphanet:582)
Roifman syndrome (Orphanet:353298)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES (OMIM:600093)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE (OMIM:271600)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE (OMIM:609223)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY (OMIM:183850)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondyloepiphyseal dysplasia tarda, Kohn type (Orphanet:163665)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Spondyloepiphyseal dysplasia, Kimberley type (Orphanet:93283)
Spondyloepiphyseal dysplasia, MacDermot type (Orphanet:163668)
Spondyloepiphyseal dysplasia, Maroteaux type (Orphanet:263482)
Spondyloepiphyseal dysplasia, Reardon type (Orphanet:163662)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 2 (Orphanet:90654)