Spondylometaphyseal dysplasia

Symptom Information:

Symptom ID: HPO:0002657
Synonyms:
Spondylometaphyseal dysplasia [OMIM:Spondylometaphyseal dysplasia]
Quality:
Cross references:
OMIM: "Spondylometaphyseal dysplasia" [OMIM:Spondylometaphyseal dysplasia]
Is a (Direct Parents):
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)
                Spondylometaphyseal dysplasia(HPO:0002657)
MedDRA:
Database Frequency: 12 / 7739
Resource:

All diseases associated with this symptom:

Axial spondylometaphyseal dysplasia (Orphanet:168549)
Goldblatt syndrome (Orphanet:166272)
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE (OMIM:611702)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, 'corner fracture' type (Orphanet:93315)
Spondylometaphyseal dysplasia, A4 type (Orphanet:168555)
Spondylometaphyseal dysplasia, Golden type (Orphanet:168544)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)