Absent humerus

Symptom Information:

Symptom ID: HPO:0003862
Synonyms:
Aplasia of the humerus [HPO:0003862]
Aplastic humerus [HPO:0003862]
Humerus absence [Orphanet:19180]
Congenital absence of humerus [HPO:0003862]
Congenital absence of humerus (disorder) [Orphanet:19180]
Congenital absence of humerus [Orphanet:19180]
Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus [Orphanet:19180]
Aplastic humeri [OMIM:Aplastic humeri]
Quality:
Cross references:
HPO:0006507 "Aplasia/Hypoplasia of the humerus" [Orphanet:19180]
Orphanet:19180 "Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus" [Orphanet:19180]
OMIM: "Aplastic humeri" [OMIM:Aplastic humeri]
UMLS:C0265578 "Congenital absence of humerus" [Orphanet:19180]
Is a (Direct Parents):
Orphanet Upper limb segmental anomalies
HPO         Aplasia/hypoplasia of the humerus
HPO         Abnormal bone ossification
Orphanet Abnormality of the humerus
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 of the humerus(HPO:0006507)
                            Absent humerus(HPO:0003862)
                      Abnormality of the upper arm(HPO:0001454)
                         Abnormality of the humerus(HPO:0003063)
                            Aplasia/hypoplasia of the humerus(HPO:0006507)
                               Absent humerus(HPO:0003862)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia of the humerus(HPO:0006507)
                            Absent humerus(HPO:0003862)
             Abnormal bone structure(HPO:0003330)
                Abnormal bone ossification(HPO:0011849)
                   Absent humerus(HPO:0003862)
             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)
                         Absent humerus(HPO:0003862)
MedDRA:
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

Ulbright-Hodes syndrome (Orphanet:3404)