Platybasia

Symptom Information:

Symptom ID: HPO:0002691
Synonyms:
Platybasia (disorder) [Orphanet:2880]
Platybasia [Orphanet:2880]
Platybasia [OMIM:Platybasia]
Basilary impression/invagination/cranio-spinal malformation/platybasia [Orphanet:2880]
Platybasia [MedDRA:10057115]
Basilar invagination [MedDRA:10057115]
Quality:
Cross references:
Orphanet:2880 "Basilary impression/invagination/cranio-spinal malformation/platybasia" [Orphanet:2880]
OMIM: "Platybasia" [OMIM:Platybasia]
UMLS:C0032209 "Platybasia" [HPO:0002691]
UMLS:C0032209 "Platybasia" [Orphanet:2880]
Is a (Direct Parents):
Orphanet Abnormality of the skull
HPO         Abnormality of calvarial morphology
MedDRA Musculoskeletal and connective tissue disorders of skull congenital
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 skull(HPO:0000929)
                   Abnormality of the calvaria(HPO:0002683)
                      Abnormality of calvarial morphology(HPO:0002648)
                         Platybasia(HPO:0002691)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Abnormality of the calvaria(HPO:0002683)
                   Abnormality of calvarial morphology(HPO:0002648)
                      Platybasia(HPO:0002691)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of skull congenital(MedDRA:10028382)
          Platybasia(HPO:0002691)
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

Acroosteolysis, dominant type (Orphanet:955)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Craniosynostosis, Boston type (Orphanet:1541)
Hallermann-Streiff syndrome (Orphanet:2108)
Hurler-Scheie syndrome (Orphanet:93476)
Isolated Dandy-Walker malformation (Orphanet:217)
Lateral meningocele syndrome (Orphanet:2789)
Osteogenesis imperfecta type 3 (Orphanet:216812)
Primary basilar impression (Orphanet:2285)