Aplasia/Hypoplasia of the radius

Symptom Information:

Symptom ID: HPO:0006501
Synonyms:
Radial aplasia/hypoplasia [HPO:0006501]
Radius absence [Orphanet:19240]
Radius hypoplasia [Orphanet:19240]
Congenital absence of radius (disorder) [Orphanet:19240]
Hypoplasia of radius (disorder) [Orphanet:19240]
Partial radial absence (disorder) [Orphanet:19240]
Congenital hypoplasia of radius (disorder) [Orphanet:19240]
Congenital absence of radius [Orphanet:19240]
Partial radial absence [Orphanet:19240]
Congenital hypoplasia of radius [Orphanet:19240]
Radial aplasia/hypoplasia [OMIM:Radial aplasia/hypoplasia]
Radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray [Orphanet:19240]
Quality:
Cross references:
HPO:0003974 "Absent radius" [Orphanet:19240]
HPO:0002984 "Hypoplasia of the radius" [Orphanet:19240]
Orphanet:19240 "Radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray" [Orphanet:19240]
OMIM: "Radial aplasia/hypoplasia" [OMIM:Radial aplasia/hypoplasia]
UMLS:C0265582 "Congenital absence of radius" [Orphanet:19240]
UMLS:C0431843 "Partial radial absence" [Orphanet:19240]
UMLS:C0685381 "Congenital hypoplasia of radius" [Orphanet:19240]
Is a (Direct Parents):
Orphanet Upper limb segmental anomalies
HPO         Aplasia/hypoplasia involving forearm bones
Orphanet Abnormality of the radius
HPO         Abnormality of the radius
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)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia/Hypoplasia of the radius(HPO:0006501)
                      Abnormality of the forearm(HPO:0002973)
                         Aplasia/hypoplasia involving forearm bones(HPO:0006503)
                            Aplasia/Hypoplasia of the radius(HPO:0006501)
                         Abnormality of the radius(HPO:0002818)
                            Aplasia/Hypoplasia of the radius(HPO:0006501)
                   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/Hypoplasia of the radius(HPO:0006501)
             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/Hypoplasia of the radius(HPO:0006501)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

RAPADILINO syndrome (Orphanet:3021)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)