Proximal tibial hypoplasia

Symptom Information:

Symptom ID: HPO:0006379
Synonyms:
Proximal tibial hypopolasia [OMIM:Proximal tibial hypopolasia]
Quality:
Cross references:
OMIM: "Proximal tibial hypopolasia" [OMIM:Proximal tibial hypopolasia]
Is a (Direct Parents):
HPO         Short tibia
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)
                Short long bone(HPO:0003026)
                   Short tibia(HPO:0005736)
                      Proximal tibial hypoplasia(HPO:0006379)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                      Aplasia/Hypoplasia of the tibia(HPO:0005772)
                         Short tibia(HPO:0005736)
                            Proximal tibial hypoplasia(HPO:0006379)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the lower limb(HPO:0002814)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the tibia(HPO:0005772)
                            Short tibia(HPO:0005736)
                               Proximal tibial hypoplasia(HPO:0006379)
                      Abnormality of the calf(HPO:0002981)
                         Abnormality of the tibia(HPO:0002992)
                            Aplasia/Hypoplasia of the tibia(HPO:0005772)
                               Short tibia(HPO:0005736)
                                  Proximal tibial hypoplasia(HPO:0006379)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the tibia(HPO:0005772)
                            Short tibia(HPO:0005736)
                               Proximal tibial hypoplasia(HPO:0006379)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Hydrolethalus (Orphanet:2189)