Absent radius

Symptom Information:

Symptom ID: HPO:0003974
Synonyms:
absence of radius and ulna [HPO:0003974]
Absent ossification/absence of radius [HPO:0003974]
Aplasia of the radius [HPO:0003974]
Radial aplasia [HPO:0003974]
Radius absence [Orphanet:19240]
Congenital absence of radius [HPO:0003974]
Congenital absence of radius (disorder) [Orphanet:19240]
Congenital absence of radius [Orphanet:19240]
Absence of radius and ulna [OMIM:Absence of radius and ulna]
Absent radius [OMIM:Absent radius]
Radial aplasia [OMIM:Radial aplasia]
Radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray [Orphanet:19240]
Radial aplasia (reported in 1 patient) [OMIM:Radial aplasia (reported in 1 patient)]
Quality:
Cross references:
HPO:0006501 "Aplasia/Hypoplasia of the radius" [Orphanet:19240]
Orphanet:19240 "Radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray" [Orphanet:19240]
OMIM: "Absence of radius and ulna" [OMIM:Absence of radius and ulna]
OMIM: "Absent radius" [OMIM:Absent radius]
OMIM: "Radial aplasia" [OMIM:Radial aplasia]
OMIM: "Radial aplasia (reported in 1 patient)" [OMIM:Radial aplasia (reported in 1 patient)]
UMLS:C0265582 "Congenital absence of radius" [Orphanet:19240]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the radius
HPO         Aplasia involving forearm bones
Orphanet Upper limb segmental anomalies
Orphanet Abnormality of the radius
HPO         Absent forearm bone
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 upper limbs(HPO:0006496)
                      Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                         Aplasia involving forearm bones(HPO:0009822)
                            Absent radius(HPO:0003974)
                         Aplasia/Hypoplasia of the radius(HPO:0006501)
                            Absent radius(HPO:0003974)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia involving forearm bones(HPO:0009822)
                               Absent radius(HPO:0003974)
                            Aplasia/Hypoplasia of the radius(HPO:0006501)
                               Absent radius(HPO:0003974)
                   Abnormality of the upper limb(HPO:0002817)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia involving forearm bones(HPO:0009822)
                               Absent radius(HPO:0003974)
                            Aplasia/Hypoplasia of the radius(HPO:0006501)
                               Absent radius(HPO:0003974)
                      Abnormality of the forearm(HPO:0002973)
                         Abnormality of the radius(HPO:0002818)
                            Aplasia/Hypoplasia of the radius(HPO:0006501)
                               Absent radius(HPO:0003974)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia involving forearm bones(HPO:0009822)
                               Absent radius(HPO:0003974)
                            Aplasia/Hypoplasia of the radius(HPO:0006501)
                               Absent radius(HPO:0003974)
                         Absent forearm bone(HPO:0003953)
                            Absent radius(HPO:0003974)
             Abnormal bone structure(HPO:0003330)
                Abnormal bone ossification(HPO:0011849)
                   Absent forearm bone(HPO:0003953)
                      Absent radius(HPO:0003974)
MedDRA:
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

Acheiropodia (Orphanet:931)
Acro-renal-ocular syndrome (Orphanet:959)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Baller-Gerold syndrome (Orphanet:1225)
Boomerang dysplasia (Orphanet:1263)
CHARGE syndrome (Orphanet:138)
Cat-eye syndrome (Orphanet:195)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Fanconi anemia (Orphanet:84)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Laurin-Sandrow syndrome (Orphanet:2378)
Nager syndrome (Orphanet:245)
Okihiro syndrome (Orphanet:93293)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE (OMIM:179400)
Radio-renal syndrome (Orphanet:3015)
Radius absent - anogenital anomalies (Orphanet:3016)
SC PHOCOMELIA SYNDROME (OMIM:269000)
Ulnar-mammary syndrome (Orphanet:3138)
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
VACTERL/VATER association (Orphanet:887)
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY (OMIM:602200)