Metaphyseal chondrodysplasia

Symptom Information:

Symptom ID: HPO:0005871
Synonyms:
Metaphyseal chondrodysplasia [OMIM:Metaphyseal chondrodysplasia]
Quality:
Cross references:
OMIM: "Metaphyseal chondrodysplasia" [OMIM:Metaphyseal chondrodysplasia]
Is a (Direct Parents):
HPO         Metaphyseal dysplasia
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 metaphyses(HPO:0000944)
                      Metaphyseal dysplasia(HPO:0100255)
                         Metaphyseal chondrodysplasia(HPO:0005871)
             Skeletal dysplasia(HPO:0002652)
                Metaphyseal dysplasia(HPO:0100255)
                   Metaphyseal chondrodysplasia(HPO:0005871)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormality of the metaphyses(HPO:0000944)
                   Metaphyseal dysplasia(HPO:0100255)
                      Metaphyseal chondrodysplasia(HPO:0005871)
MedDRA:
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS (OMIM:215050)
Leukoencephalopathy - metaphyseal chondrodysplasia (Orphanet:83629)
METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE (OMIM:250300)
Metaphyseal chondrodysplasia - retinitis pigmentosa (Orphanet:166035)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Shwachman-Diamond syndrome (Orphanet:811)