loading...| Preferred Name | hypophosphatemic rickets, X-linked recessive | |
| Synonyms |
X-linked hypophosphatemic rickets caused by mutation in CLCN5 CLCN5 X-linked hypophosphatemic rickets hypophosphatemic rickets, X-linked recessive |
|
| Definitions |
Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010358 |
|
| comment |
Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations |
|
| altLabel |
X-linked hypophosphatemic rickets caused by mutation in CLCN5 CLCN5 X-linked hypophosphatemic rickets hypophosphatemic rickets, X-linked recessive |
|
| definition |
Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations |
|
| has_exact_synonym |
X-linked hypophosphatemic rickets caused by mutation in CLCN5 CLCN5 X-linked hypophosphatemic rickets hypophosphatemic rickets, X-linked recessive |
|
| IAO_0000233 | ||
| label |
hypophosphatemic rickets, X-linked recessive |
|
| prefixIRI |
MONDO:0010358 |
|
| prefLabel |
hypophosphatemic rickets, X-linked recessive |
|
| textual definition |
Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020605 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0010358 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0010358 | MONDO | SAME_URI | |
| http://identifiers.org/omim/300554 | REXO | LOOM | |
| http://identifiers.org/omim/300554 | GEXO | LOOM | |
| http://identifiers.org/omim/300554 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010358 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010358 | MONDO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/300554 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_300554 | CCO | LOOM |