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 1 ID (Ontology) DOID:0060292 (Human Disease)
Definition A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.
Also Known As "chondrodystrophia calcificans congenita"
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 Genes
 X-linked chondrodysplasia punctata 1       2
 for disease ribbon | X-linked chondrodysplasia punctata 1       2
 model of | X-linked chondrodysplasia punctata 1       2
Spanning Tree (Parents/Children)
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monogenic disease
 |__chondrodysplasia punctata___
X-linked monogenic disease      |
 |__X-linked recessive disease__|
syndrome                        |
 |__chondrodysplasia punctata___|
                                X-linked chondrodysplasia punctata 1  2 rec.
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Is a X-linked recessive disease
chondrodysplasia punctata
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Synonyms
  • "chondrodystrophia calcificans congenita" EXACT
Secondary IDs
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ICD10CM:Q77.3
MESH:C580533
MIM:302950
ORDO:35173