Aplasia/hypoplasia of the femur

Symptom Information:

Symptom ID: HPO:0005613
Synonyms:
Hypoplastic to absent femora [HPO:0005613]
Hypoplastic/aplastic femora [HPO:0005613]
Femur hypoplasia [Orphanet:21080]
Femur absence [Orphanet:21080]
Congenital hypoplasia of femur (disorder) [Orphanet:21080]
Congenital absence of femur (disorder) [Orphanet:21080]
Congenital hypoplasia of femur [Orphanet:21080]
Congenital absence of femur [Orphanet:21080]
Hypoplastic to absent femora [OMIM:Hypoplastic to absent femora]
Hypoplastic/aplastic femora [OMIM:Hypoplastic/aplastic femora]
Femur anomaly/absence/agenesis/hypoplasia/bifurcation [Orphanet:21080]
Quality:
Cross references:
HPO:0011428 "Short fetal femur length" [Orphanet:21080]
HPO:0003097 "Short femur" [Orphanet:21080]
Orphanet:21080 "Femur anomaly/absence/agenesis/hypoplasia/bifurcation" [Orphanet:21080]
OMIM: "Hypoplastic to absent femora" [OMIM:Hypoplastic to absent femora]
OMIM: "Hypoplastic/aplastic femora" [OMIM:Hypoplastic/aplastic femora]
UMLS:C0345375 "Congenital hypoplasia of femur" [Orphanet:21080]
UMLS:C0265629 "Congenital absence of femur" [Orphanet:21080]
Is a (Direct Parents):
Orphanet Abnormality of the femur
Orphanet Abnormality of the lower limb
HPO         Aplasia/hypoplasia involving bones of the lower limbs
HPO         Femoral aplasia
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)
             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 femur(HPO:0005613)
             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 femur(HPO:0005613)
                      Abnormality of the femur(HPO:0002823)
                         Aplasia/hypoplasia of the femur(HPO:0005613)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/hypoplasia of the femur(HPO:0005613)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Diabetic embryopathy (Orphanet:1926)
Femoral-facial syndrome (Orphanet:1988)
Fuhrmann syndrome (Orphanet:2854)
Phocomelia, Schinzel type (Orphanet:2879)