Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
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:0000327 | Hypoplasia of the maxilla |
| HP:0000410 | Mixed hearing impairment |
| HP:0000455 | Broad nasal tip |
| HP:0000457 | Depressed nasal ridge |
| HP:0000518 | Cataract |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0000919 | Abnormality of the costochondral junction |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0001263 | Global developmental delay |
| HP:0001629 | Ventricular septal defect |
