Proximal radio-ulnar synostosis

Symptom Information:

Symptom ID: HPO:0005037
Synonyms:
Radioulnar joint synostosis [Orphanet:19480]
Radioulnar synostosis (disorder) [Orphanet:19480]
Radioulnar synostosis [Orphanet:19480]
Proximal radio-ulnar synostosis [OMIM:Proximal radio-ulnar synostosis]
Radioulnar synostosis [MedDRA:10037798]
Radioulnar synostosis (in some patients) [OMIM:Radioulnar synostosis (in some patients)]
Radioulnar synostosis (rare) [OMIM:Radioulnar synostosis (rare)]
Radioulnar synostosis (reported in 1 patient) [OMIM:Radioulnar synostosis (reported in 1 patient)]
Quality:
Cross references:
HPO:0002974 "Radioulnar synostosis" [Orphanet:19480]
Orphanet:19480 "Radioulnar synostosis" [Orphanet:19480]
OMIM: "Proximal radio-ulnar synostosis" [OMIM:Proximal radio-ulnar synostosis]
OMIM: "Radioulnar synostosis (in some patients)" [OMIM:Radioulnar synostosis (in some patients)]
OMIM: "Radioulnar synostosis (rare)" [OMIM:Radioulnar synostosis (rare)]
OMIM: "Radioulnar synostosis (reported in 1 patient)" [OMIM:Radioulnar synostosis (reported in 1 patient)]
UMLS:C0158761 "Radioulnar synostosis" [Orphanet:19480]
Is a (Direct Parents):
HPO         Radioulnar synostosis
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
Orphanet Abnormality of the elbow
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 upper limb(HPO:0002817)
                      Abnormality of the forearm(HPO:0002973)
                         Abnormality of the radius(HPO:0002818)
                            Radioulnar synostosis(HPO:0002974)
                               Proximal radio-ulnar synostosis(HPO:0005037)
                         Abnormality of the ulna(HPO:0002997)
                            Radioulnar synostosis(HPO:0002974)
                               Proximal radio-ulnar synostosis(HPO:0005037)
                      Abnormality of upper limb joint(HPO:0009810)
                         Synostosis involving bones of the upper limbs(HPO:0100238)
                            Radioulnar synostosis(HPO:0002974)
                               Proximal radio-ulnar synostosis(HPO:0005037)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of joint mobility(HPO:0011729)
                   Synostosis of joints(HPO:0100240)
                      Synostosis involving bones of the upper limbs(HPO:0100238)
                         Radioulnar synostosis(HPO:0002974)
                            Proximal radio-ulnar synostosis(HPO:0005037)
                Abnormality of upper limb joint(HPO:0009810)
                   Synostosis involving bones of the upper limbs(HPO:0100238)
                      Radioulnar synostosis(HPO:0002974)
                         Proximal radio-ulnar synostosis(HPO:0005037)
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)
          Proximal radio-ulnar synostosis(HPO:0005037)
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

3MC SYNDROME 2 (OMIM:265050)
48,XXYY syndrome (Orphanet:10)
Genitopatellar syndrome (Orphanet:85201)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia (Orphanet:71289)
Temtamy preaxial brachydactyly syndrome (Orphanet:363417)