Abnormality of the femur

Symptom Information:

Symptom ID: HPO:0002823
Abnormality of the femora [HPO:0002823]
Femur anomaly [Orphanet:21080]
Congenital anomaly of femur (disorder) [Orphanet:21080]
Congenital anomaly of femur [Orphanet:21080]
Femur anomaly/absence/agenesis/hypoplasia/bifurcation [Orphanet:21080]
Cross references:
Orphanet:21080 "Femur anomaly/absence/agenesis/hypoplasia/bifurcation" [Orphanet:21080]
UMLS:C1290463 "Congenital anomaly of femur" [Orphanet:21080]
Is a (Direct Parents):
HPO         Abnormality of the lower limb
Orphanet Abnormality of the lower limb
Is a (Whole tree): HPO:
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the lower limb(HPO:0002814)
                      Abnormality of the femur(HPO:0002823)
Database Frequency: 61 / 7739

All diseases associated with this symptom:

Absence deformity of leg - cataract (Orphanet:2310)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acromicric dysplasia (Orphanet:969)
Adamantinoma (Orphanet:55881)
Antley-Bixler syndrome (Orphanet:83)
Autosomal recessive omodysplasia (Orphanet:93329)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Boomerang dysplasia (Orphanet:1263)
Bowed tibiae - radial anomalies - osteopenia - fractures (Orphanet:3331)
CHARGE syndrome (Orphanet:138)
Campomelic dysplasia (Orphanet:140)
Camurati-Engelmann disease (Orphanet:1328)
Coxoauricular syndrome (Orphanet:1508)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Desbuquois syndrome (Orphanet:1425)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Dysplasia epiphysealis hemimelica (Orphanet:1822)
Ehlers-Danlos syndrome type 11 (Orphanet:2295)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Fabry disease (Orphanet:324)
Familial benign copper deficiency (Orphanet:1551)
Familial osteodysplasia, Anderson type (Orphanet:2769)
Fanconi anemia (Orphanet:84)
Femoral-facial syndrome (Orphanet:1988)
Femur-fibula-ulna complex (Orphanet:2019)
Fuhrmann syndrome (Orphanet:2854)
Geleophysic dysplasia (Orphanet:2623)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Gollop-Wolfgang complex (Orphanet:1986)
Hip dysplasia, Beukes type (Orphanet:2114)
Hypertryptophanemia (Orphanet:2224)
Hypochondroplasia (Orphanet:429)
KBG syndrome (Orphanet:2332)
Kniest dysplasia (Orphanet:485)
Langer mesomelic dysplasia (Orphanet:2632)
Langer-Giedion syndrome (Orphanet:502)
Lethal recessive chondrodysplasia (Orphanet:1423)
Léri-Weill dyschondrosteosis (Orphanet:240)
Madelung deformity (Orphanet:35688)
Mesomelia-synostoses syndrome (Orphanet:2496)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Multiple epiphyseal dysplasia (Orphanet:251)
Multiple osteochondromas (Orphanet:321)
Nephronophthisis 9 (OMIM:613824)
Osteogenesis imperfecta (Orphanet:666)
Satoyoshi syndrome (Orphanet:3130)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Thalidomide embryopathy (Orphanet:3312)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thrombocytopenia - absent radius (Orphanet:3320)
Tibial aplasia - ectrodactyly (Orphanet:3329)
Upington disease (Orphanet:3408)
Verloove Vanhorick-Brubakk syndrome (Orphanet:3429)
Weismann-Netter syndrome (Orphanet:3344)