Severe platyspondyly

Symptom Information:

Symptom ID: HPO:0004565
Synonyms:
platyspondyly, extreme [HPO:0004565]
Platyspondyly [Orphanet:16300]
Platyspondylia (disorder) [Orphanet:16300]
Platyspondylia [Orphanet:16300]
Platyspondyly, extreme [OMIM:Platyspondyly, extreme]
Severe platyspondyly [OMIM:Severe platyspondyly]
Platyspondylia [MedDRA:10068629]
Platyspondyly (early childhood) [OMIM:Platyspondyly (early childhood)]
Platyspondyly (infancy) [OMIM:Platyspondyly (infancy)]
Platyspondyly (neonate) [OMIM:Platyspondyly (neonate)]
Platyspondyly (thoracic vertebrae) [OMIM:Platyspondyly (thoracic vertebrae)]
Platyspondyly, severe [OMIM:Platyspondyly, severe]
Severe platyspondyly (childhood) [OMIM:Severe platyspondyly (childhood)]
Quality:
Cross references:
HPO:0000926 "Platyspondyly" [Orphanet:16300]
Orphanet:16300 "Platyspondyly" [Orphanet:16300]
OMIM: "Platyspondyly, extreme" [OMIM:Platyspondyly, extreme]
OMIM: "Severe platyspondyly" [OMIM:Severe platyspondyly]
OMIM: "Platyspondyly (early childhood)" [OMIM:Platyspondyly (early childhood)]
OMIM: "Platyspondyly (infancy)" [OMIM:Platyspondyly (infancy)]
OMIM: "Platyspondyly (neonate)" [OMIM:Platyspondyly (neonate)]
OMIM: "Platyspondyly (thoracic vertebrae)" [OMIM:Platyspondyly (thoracic vertebrae)]
OMIM: "Platyspondyly, severe" [OMIM:Platyspondyly, severe]
OMIM: "Severe platyspondyly (childhood)" [OMIM:Severe platyspondyly (childhood)]
UMLS:C0265679 "Platyspondylia" [Orphanet:16300]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of spine congenital
HPO         Platyspondyly
Orphanet Abnormal form of the vertebral bodies
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)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the vertebral column(HPO:0000925)
                   Abnormality of the vertebrae(HPO:0003468)
                      Abnormal form of the vertebral bodies(HPO:0003312)
                         Platyspondyly(HPO:0000926)
                            Severe platyspondyly(HPO:0004565)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of spine congenital(MedDRA:10028383)
          Severe platyspondyly(HPO:0004565)
Database Frequency: 13 / 7739
Resource:

All diseases associated with this symptom:

BRUCK SYNDROME 2 (OMIM:609220)
Cardiomyopathy-cataract-hip spine disease (Orphanet:1345)
Goldblatt syndrome (Orphanet:166272)
Opsismodysplasia (Orphanet:2746)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)