OBO ID: DOID:14773 |
Term Name: | cartilage-hair hypoplasia | Search Ontology: | |
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Synonyms: |
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Definition: | An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. (2) | ||
References: |
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Ontology: | Human Disease ( DOID:14773 ) |
OTHER cartilage-hair hypoplasia PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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RMRP | Cartilage-hair hypoplasia |
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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rmrpzf3563/zf3563 | standard conditions | Sun et al., 2019 |
PHENOTYPE
No data available
CITATIONS (1)
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