Spondyloepiphyseal dysplasia
Symptom Information:
Symptom ID: | HPO:0002655 | |||||
Synonyms: |
|
|||||
Quality: | ||||||
Cross references: |
|
|||||
Is a (Direct Parents): |
|
|||||
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) |