Metaphyseal chondrodysplasia
Symptom Information:
Symptom ID: | HPO:0005871 | ||
Synonyms: |
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Is a (Direct Parents): |
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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) Abnormality of long bone morphology(HPO:0011314) Abnormality of the metaphyses(HPO:0000944) Metaphyseal dysplasia(HPO:0100255) Metaphyseal chondrodysplasia(HPO:0005871) 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) MedDRA: |
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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) |