Fibular aplasia

Symptom Information:

Symptom ID: HPO:0002990
Synonyms:
Absent fibulae [HPO:0002990]
Absent-hypoplastic fibulae [HPO:0002990]
Fibula absence [Orphanet:21160]
Congenital absence of fibula [HPO:0002990]
Congenital absence of fibula (disorder) [Orphanet:21160]
Congenital absence of fibula [Orphanet:21160]
Absent fibulae [OMIM:Absent fibulae]
Absent-hypoplastic fibulae [OMIM:Absent-hypoplastic fibulae]
Fibular aplasia [OMIM:Fibular aplasia]
Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly [Orphanet:21160]
Fibula agenesis [HPO:0002990]
Fibula agenesis [Orphanet:21160]
Fibula agenesis [MedDRA:10054882]
Absent fibula [OMIM:Absent fibula]
Quality:
Cross references:
HPO:0004986 "Rudimentary to absent fibulae" [Orphanet:21160]
HPO:0006492 "Aplasia/Hypoplasia of the fibula" [Orphanet:21160]
Orphanet:21160 "Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly" [Orphanet:21160]
OMIM: "Absent fibulae" [OMIM:Absent fibulae]
OMIM: "Absent-hypoplastic fibulae" [OMIM:Absent-hypoplastic fibulae]
OMIM: "Fibular aplasia" [OMIM:Fibular aplasia]
OMIM: "Absent fibula" [OMIM:Absent fibula]
UMLS:C0265635 "Congenital absence of fibula" [Orphanet:21160]
Is a (Direct Parents):
Orphanet Abnormality of the lower limb
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
HPO         Aplasia/Hypoplasia of the fibula
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)
             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 fibula(HPO:0002991)
                            Aplasia/Hypoplasia of the fibula(HPO:0006492)
                               Fibular aplasia(HPO:0002990)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the fibula(HPO:0006492)
                            Fibular aplasia(HPO:0002990)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the fibula(HPO:0006492)
                            Fibular aplasia(HPO:0002990)
             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 fibula(HPO:0006492)
                         Fibular aplasia(HPO:0002990)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381)
          Fibular aplasia(HPO:0002990)
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

Acheiropodia (Orphanet:931)
Atelosteogenesis type I (Orphanet:1190)
Boomerang dysplasia (Orphanet:1263)
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES (OMIM:609441)
Craniosynostosis - fibular aplasia (Orphanet:1533)
FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME (OMIM:246570)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Fibular aplasia - ectrodactyly (Orphanet:1118)
Fuhrmann syndrome (Orphanet:2854)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Pelviscapular dysplasia (Orphanet:93333)
Phocomelia, Schinzel type (Orphanet:2879)
Thrombocytopenia - absent radius (Orphanet:3320)
Ulbright-Hodes syndrome (Orphanet:3404)