FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked chondrodysplasia punctata 2 ID (Ontology) DOID:0080352 (Human Disease)
Definition A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
Also Known As "Conradi-Hunermann Syndrome" ; "Happle syndrome"
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monogenic disease
 |__chondrodysplasia punctata__
X-linked monogenic disease     |
 |__X-linked dominant disease__|
syndrome                       |
 |__chondrodysplasia punctata__|
                               X-linked chondrodysplasia punctata 2  1 rec.
                                |__chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1 rec.
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Is a X-linked dominant disease
chondrodysplasia punctata
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Synonyms
  • "Conradi-Hunermann Syndrome" EXACT
    "Happle syndrome" EXACT
Secondary IDs
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MIM:302960