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 / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
X-linked chondrodysplasia punctata 2
Summary
- Synonym
-
- Conradi-Hunermann Syndrome
- Happle syndrome
- 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.
- Super Class
- X-linked dominant disease chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0080352
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008131 | Tarsal stippling |
| HP:0008420 | Punctate vertebral calcifications |
| HP:0008897 | Postnatal growth retardation |
| HP:0008905 | Rhizomelia |
| HP:0011120 | Concave nasal ridge |
| HP:0012368 | Flat face |
| HP:0100259 | Postaxial polydactyly |
| HP:0100556 | Hemiatrophy |
