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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:0010666 | Hypoplasia of the anterior nasal spine |
| HP:0010880 | Increased nuchal translucency |
| HP:0011968 | Feeding difficulties |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:3000052 | Abnormal hyoid bone morphology |
| HP:0000135 | Hypogonadism |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000420 | Short nasal septum |
| HP:0000458 | Anosmia |
