Dumbbell-shaped femur

Symptom Information:

Symptom ID: HPO:0006375
Synonyms:
Dumbbell-shaped femurs (newborn) [OMIM:Dumbbell-shaped femurs (newborn)]
Quality:
Cross references:
OMIM: "Dumbbell-shaped femurs (newborn)" [OMIM:Dumbbell-shaped femurs (newborn)]
Is a (Direct Parents):
HPO         Dumbbell-shaped long bone
HPO         Abnormality of the femur
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)
                Abnormality of the metaphyses(HPO:0000944)
                   Metaphyseal widening(HPO:0003016)
                      Dumbbell-shaped long bone(HPO:0000947)
                         Dumbbell-shaped femur(HPO:0006375)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the metaphyses(HPO:0000944)
                      Metaphyseal widening(HPO:0003016)
                         Dumbbell-shaped long bone(HPO:0000947)
                            Dumbbell-shaped femur(HPO:0006375)
                   Abnormality of the lower limb(HPO:0002814)
                      Abnormality of the femur(HPO:0002823)
                         Dumbbell-shaped femur(HPO:0006375)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Atelosteogenesis type II (Orphanet:56304)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)