Short femur

Symptom Information:

Symptom ID: HPO:0003097
Synonyms:
Femoral hypoplasia [HPO:0003097]
Hypoplasia of the femora [HPO:0003097]
Short femurs [HPO:0003097]
Femur hypoplasia [Orphanet:21080]
Congenital hypoplasia of femur [HPO:0003097]
Congenital hypoplasia of femur (disorder) [Orphanet:21080]
Congenital hypoplasia of femur [Orphanet:21080]
Short femurs [OMIM:Short femurs]
Femur anomaly/absence/agenesis/hypoplasia/bifurcation [Orphanet:21080]
Short femora [OMIM:Short femora]
Quality:
Cross references:
HPO:0005613 "Aplasia/hypoplasia of the femur" [Orphanet:21080]
HPO:0011428 "Short fetal femur length" [Orphanet:21080]
Orphanet:21080 "Femur anomaly/absence/agenesis/hypoplasia/bifurcation" [Orphanet:21080]
OMIM: "Short femurs" [OMIM:Short femurs]
OMIM: "Short femora" [OMIM:Short femora]
UMLS:C0345375 "Congenital hypoplasia of femur" [Orphanet:21080]
Is a (Direct Parents):
HPO         Aplasia/hypoplasia of the femur
Orphanet Abnormality of the femur
Orphanet Abnormality of the lower limb
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)
                         Short femur(HPO:0003097)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/hypoplasia of the femur(HPO:0005613)
                            Short femur(HPO:0003097)
                   Abnormality of the lower limb(HPO:0002814)
                      Abnormality of the femur(HPO:0002823)
                         Aplasia/hypoplasia of the femur(HPO:0005613)
                            Short femur(HPO:0003097)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/hypoplasia of the femur(HPO:0005613)
                            Short femur(HPO:0003097)
MedDRA:
Database Frequency: 13 / 7739
Resource:

All diseases associated with this symptom:

Acrocapitofemoral dysplasia (Orphanet:63446)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Atelosteogenesis type I (Orphanet:1190)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
Kyphomelic dysplasia (Orphanet:1801)
Lethal chondrodysplasia, Seller type (Orphanet:1421)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic chondrodysplasia punctata type 3 (Orphanet:309803)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
Short-rib thoracic dysplasia 2 with or without polydactyly (OMIM:611263)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)