Short tibia

Symptom Information:

Symptom ID: HPO:0005736
Synonyms:
Hypoplasia of the tibia [HPO:0005736]
Hypoplastic tibia [HPO:0005736]
Short tibiae [HPO:0005736]
Tibia hypoplasia [Orphanet:21120]
Hypoplastic tibia [OMIM:Hypoplastic tibia]
Short tibia [OMIM:Short tibia]
Short tibiae [OMIM:Short tibiae]
Tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly [Orphanet:21120]
Hypoplastic tibia (rare) [OMIM:Hypoplastic tibia (rare)]
Short tibias [OMIM:Short tibias]
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: "Hypoplastic tibia" [OMIM:Hypoplastic tibia]
OMIM: "Short tibia" [OMIM:Short tibia]
OMIM: "Short tibiae" [OMIM:Short tibiae]
OMIM: "Hypoplastic tibia (rare)" [OMIM:Hypoplastic tibia (rare)]
OMIM: "Short tibias" [OMIM:Short tibias]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the tibia
Orphanet Abnormality of the tibia
HPO         Short long bone
Orphanet Abnormality of the lower limb
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)
             Abnormality of long bone morphology(HPO:0011314)
                Short long bone(HPO:0003026)
                   Short tibia(HPO:0005736)
             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)
                         Short tibia(HPO:0005736)
             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)
                            Aplasia/Hypoplasia of the tibia(HPO:0005772)
                               Short tibia(HPO:0005736)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the tibia(HPO:0005772)
                            Short tibia(HPO:0005736)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the tibia(HPO:0005772)
                            Short tibia(HPO:0005736)
MedDRA:
Database Frequency: 19 / 7739
Resource:

All diseases associated with this symptom:

Acheiropodia (Orphanet:931)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Autosomal recessive omodysplasia (Orphanet:93329)
Brachydactyly type A6 (Orphanet:93382)
Chondrodysplasia punctata, tibial-metacarpal type (Orphanet:79346)
Dyschondrosteosis - nephritis (Orphanet:1765)
Lethal chondrodysplasia, Seller type (Orphanet:1421)
Léri-Weill dyschondrosteosis (Orphanet:240)
MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE (OMIM:156230)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Orofaciodigital syndrome type 9 (Orphanet:141007)
Richieri Costa-Pereira syndrome (Orphanet:3102)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
Stüve-Wiedemann syndrome (Orphanet:3206)