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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0003467 | Atlantoaxial instability |
| HP:0003508 | Proportionate short stature |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0004695 | Calcaneal epiphyseal stippling |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0007766 | Optic disc hypoplasia |
| HP:0008417 | Vertebral hypoplasia |
| HP:0008420 | Punctate vertebral calcifications |
| HP:0008434 | Hypoplastic cervical vertebrae |
| HP:0008445 | Cervical spinal canal stenosis |
