Diaphyseal dysplasia

Symptom Information:

Symptom ID: HPO:0100252
Synonyms:
Diaphyseal anomaly [Orphanet:45840]
Diaphyseal dysplasia [OMIM:Diaphyseal dysplasia]
Quality:
Cross references:
HPO:0000940 "Abnormal diaphysis morphology" [Orphanet:45840]
Orphanet:45840 "Diaphyseal anomaly" [Orphanet:45840]
OMIM: "Diaphyseal dysplasia" [OMIM:Diaphyseal dysplasia]
Is a (Direct Parents):
Orphanet Abnormality of the skeletal system
HPO         Skeletal dysplasia
HPO         Abnormal diaphysis morphology
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)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormal diaphysis morphology(HPO:0000940)
                   Diaphyseal dysplasia(HPO:0100252)
             Skeletal dysplasia(HPO:0002652)
                Diaphyseal dysplasia(HPO:0100252)
MedDRA:
Database Frequency: 4 / 7739
Resource:

All diseases associated with this symptom:

Buschke-Ollendorff syndrome (Orphanet:1306)
CRANIODIAPHYSEAL DYSPLASIA (OMIM:218300)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
TMEM165-CDG (Orphanet:314667)