Abnormality of the tibia

Symptom Information:

Symptom ID: HPO:0002992
Tibia anomaly [Orphanet:21120]
Congenital anomaly of tibia (disorder) [Orphanet:21120]
Congenital anomaly of tibia [Orphanet:21120]
Tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly [Orphanet:21120]
Cross references:
Orphanet:21120 "Tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly" [Orphanet:21120]
UMLS:C1290466 "Congenital anomaly of tibia" [Orphanet:21120]
Is a (Direct Parents):
HPO         Abnormality of the calf
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 calf(HPO:0002981)
                         Abnormality of the tibia(HPO:0002992)
Database Frequency: 51 / 7739

All diseases associated with this symptom:

2q31.1 microdeletion syndrome (Orphanet:251014)
Absent tibia - polydactyly (Orphanet:988)
Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Acheiropodia (Orphanet:931)
Acro-renal-mandibular syndrome (Orphanet:958)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acrorenal syndrome (Orphanet:971)
Adamantinoma (Orphanet:55881)
Becker nevus syndrome (Orphanet:64755)
Blount disease (Orphanet:2768)
Boomerang dysplasia (Orphanet:1263)
Bowed tibiae - radial anomalies - osteopenia - fractures (Orphanet:3331)
CHARGE syndrome (Orphanet:138)
Campomelic dysplasia (Orphanet:140)
Cantrell pentalogy (Orphanet:1335)
Cartilage-hair hypoplasia (Orphanet:175)
Cloacal exstrophy (Orphanet:93929)
Cranio-osteoarthropathy (Orphanet:1525)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Familial benign copper deficiency (Orphanet:1551)
Femoral-facial syndrome (Orphanet:1988)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Fibular dimelia - diplopodia (Orphanet:1757)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Gollop-Wolfgang complex (Orphanet:1986)
Hemimelia (Orphanet:2130)
Hypoplastic tibiae - postaxial polydactyly (Orphanet:3332)
Laurin-Sandrow syndrome (Orphanet:2378)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Limb transversal defect - cardiac anomaly (Orphanet:2492)
Lower limb deficiency - hypospadias (Orphanet:2487)
Léri-Weill dyschondrosteosis (Orphanet:240)
Madelung deformity (Orphanet:35688)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dwarfism, Reinhardt-Pfeiffer type (Orphanet:2634)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Microphthalmia with limb anomalies (Orphanet:1106)
Mulibrey nanism (Orphanet:2576)
Multiple osteochondromas (Orphanet:321)
Occipital horn syndrome (Orphanet:198)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Osteogenesis imperfecta (Orphanet:666)
Phocomelia, Schinzel type (Orphanet:2879)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Syndactyly type 4 (Orphanet:93405)
Thrombocytopenia - absent radius (Orphanet:3320)
Tibial aplasia - ectrodactyly (Orphanet:3329)
Weismann-Netter syndrome (Orphanet:3344)