Aplasia/Hypoplasia of the fibula

Symptom Information:

Symptom ID: HPO:0006492
Synonyms:
Fibular aplasia/hypoplasia [HPO:0006492]
Hypoplastic/aplastic fibulae [HPO:0006492]
Fibula hypoplasia [Orphanet:21160]
Fibula absence [Orphanet:21160]
Congenital hypoplasia of fibula (disorder) [Orphanet:21160]
Congenital absence of fibula (disorder) [Orphanet:21160]
Congenital hypoplasia of fibula [Orphanet:21160]
Congenital absence of fibula [Orphanet:21160]
Fibular aplasia/hypoplasia [OMIM:Fibular aplasia/hypoplasia]
Hypoplastic/aplastic fibulae [OMIM:Hypoplastic/aplastic fibulae]
Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly [Orphanet:21160]
Fibula agenesis [Orphanet:21160]
Fibula agenesis [MedDRA:10054882]
Quality:
Cross references:
HPO:0003038 "Fibular hypoplasia" [Orphanet:21160]
HPO:0004986 "Rudimentary to absent fibulae" [Orphanet:21160]
HPO:0002990 "Fibular aplasia" [Orphanet:21160]
Orphanet:21160 "Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly" [Orphanet:21160]
OMIM: "Fibular aplasia/hypoplasia" [OMIM:Fibular aplasia/hypoplasia]
OMIM: "Hypoplastic/aplastic fibulae" [OMIM:Hypoplastic/aplastic fibulae]
UMLS:C0685428 "Congenital hypoplasia of fibula" [Orphanet:21160]
UMLS:C0265635 "Congenital absence of fibula" [Orphanet:21160]
Is a (Direct Parents):
HPO         Abnormality of the fibula
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
HPO         Aplasia/hypoplasia involving bones of the lower limbs
Orphanet Abnormality of the lower limb
Orphanet Fibular aplasia
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 fibula(HPO:0006492)
             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)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the fibula(HPO:0006492)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the fibula(HPO:0006492)
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)
          Aplasia/Hypoplasia of the fibula(HPO:0006492)
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Fibular aplasia - ectrodactyly (Orphanet:1118)
Fuhrmann syndrome (Orphanet:2854)
OTOONYCHOPERONEAL SYNDROME (OMIM:259780)