OBO ID: DOID:0060292 |
Term Name: | X-linked chondrodysplasia punctata 1 | Search Ontology: | |
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Synonyms: |
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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. https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata | ||
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Ontology: | Human Disease ( DOID:0060292 ) |
OTHER X-linked chondrodysplasia punctata 1 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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ARSD | Chondrodysplasia punctata, X-linked recessive | 302950 | |
ARSE | Chondrodysplasia punctata, X-linked recessive | 302950 | |
ARSF | Chondrodysplasia punctata, X-linked recessive | 302950 | |
ARSH | Chondrodysplasia punctata, X-linked recessive | 302950 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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