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X-linked chondrodysplasia punctata 1
Summary
- Synonym
-
- chondrodystrophia calcificans congenita
- Definition
- A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.
- Super Class
- X-linked recessive disease chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0060292
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008469 | Cervical vertebral dysplasia |
| HP:0008754 | Laryngeal calcification |
| HP:0008897 | Postnatal growth retardation |
| HP:0009107 | Abnormal ossification involving the femoral head and neck |
| HP:0009882 | Short distal phalanx of finger |
| HP:0009928 | Thick nasal alae |
| HP:0010171 | Epiphyseal stippling of toe phalanges |
| HP:0010255 | Stippling of the epiphyses of the distal phalanges of the hand |
| HP:0010646 | Cervical spine instability |
| HP:0010655 | Epiphyseal stippling |
