Aplasia/hypoplasia of the humerus

Symptom Information:

Symptom ID: HPO:0006507
Synonyms:
Humerus hypoplasia [Orphanet:19180]
Humerus absence [Orphanet:19180]
Congenital hypoplasia of humerus (disorder) [Orphanet:19180]
Congenital absence of humerus (disorder) [Orphanet:19180]
Congenital hypoplasia of humerus [Orphanet:19180]
Congenital absence of humerus [Orphanet:19180]
Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus [Orphanet:19180]
Quality:
Cross references:
HPO:0005792 "Short humerus" [Orphanet:19180]
HPO:0003862 "Absent humerus" [Orphanet:19180]
Orphanet:19180 "Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus" [Orphanet:19180]
UMLS:C0685375 "Congenital hypoplasia of humerus" [Orphanet:19180]
UMLS:C0265578 "Congenital absence of humerus" [Orphanet:19180]
Is a (Direct Parents):
HPO         Abnormality of the humerus
Orphanet Upper limb segmental anomalies
Orphanet Abnormality of the humerus
HPO         Aplasia/hypoplasia involving bones of the upper limbs
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)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia of the humerus(HPO:0006507)
                   Abnormality of the upper limb(HPO:0002817)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia of the humerus(HPO:0006507)
                      Abnormality of the upper arm(HPO:0001454)
                         Abnormality of the humerus(HPO:0003063)
                            Aplasia/hypoplasia of the humerus(HPO:0006507)
             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 of the humerus(HPO:0006507)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Thrombocytopenia - absent radius (Orphanet:3320)