Absent tibia

Symptom Information:

Symptom ID: HPO:0009556
Synonyms:
Aplasia of the tibia [HPO:0009556]
Tibia absence [Orphanet:21120]
Congenital absence of tibia (disorder) [Orphanet:21120]
Congenital absence of tibia [Orphanet:21120]
Absent tibia [OMIM:Absent tibia]
Tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly [Orphanet:21120]
Quality:
Cross references:
HPO:0005772 "Aplasia/Hypoplasia of the tibia" [Orphanet:21120]
Orphanet:21120 "Tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly" [Orphanet:21120]
OMIM: "Absent tibia" [OMIM:Absent tibia]
UMLS:C0265633 "Congenital absence of tibia" [Orphanet:21120]
Is a (Direct Parents):
Orphanet Abnormality of the lower limb
HPO         Aplasia/Hypoplasia of the tibia
Orphanet Abnormality of the tibia
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)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the tibia(HPO:0005772)
                            Absent tibia(HPO:0009556)
                      Abnormality of the calf(HPO:0002981)
                         Abnormality of the tibia(HPO:0002992)
                            Aplasia/Hypoplasia of the tibia(HPO:0005772)
                               Absent tibia(HPO:0009556)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the tibia(HPO:0005772)
                            Absent tibia(HPO:0009556)
             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 tibia(HPO:0005772)
                         Absent tibia(HPO:0009556)
MedDRA:
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

Absent tibia - polydactyly (Orphanet:988)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Gollop-Wolfgang complex (Orphanet:1986)
Laurin-Sandrow syndrome (Orphanet:2378)
SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1 (OMIM:119100)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS (OMIM:275230)
Tibial aplasia - ectrodactyly (Orphanet:3329)
Tibial hemimelia (Orphanet:93322)