Aplasia/hypoplasia of the extremities

Symptom Information:

Symptom ID: HPO:0009815
Synonyms:
Aplasia/Hypoplasia involving bones of the extremities [HPO:0009815]
Short or absent limbs [HPO:0009815]
Shortened limbs [HPO:0009815]
Global upper and lower limbs anomaly [Orphanet:18000]
Shortened limbs [OMIM:Shortened limbs]
Global upper and lower limbs anomalies [Orphanet:18000]
Limb shortening [OMIM:Limb shortening]
Quality:
Cross references:
Orphanet:18000 "Global upper and lower limbs anomalies" [Orphanet:18000]
OMIM: "Shortened limbs" [OMIM:Shortened limbs]
OMIM: "Limb shortening" [OMIM:Limb shortening]
Is a (Direct Parents):
HPO         Abnormality of limb bone morphology
HPO         Aplasia/hypoplasia involving the skeleton
HPO         Aplasia/hypoplasia involving bones of the extremities
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 the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
MedDRA:
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

CHILD syndrome (Orphanet:139)
Cartilage-hair hypoplasia (Orphanet:175)
Hypochondroplasia (Orphanet:429)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Werner syndrome (Orphanet:902)