loading...| Preferred Name |
autosomal recessive hypophosphatemic rickets |
| Synonyms |
hereditary hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets, autosomal recessive autosomal recessive hereditary hypophosphatemic rickets ARHR |
| Definitions |
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0017324 |
| database_cross_reference |
UMLS:CN202957 ICD10CM:E83.3 Orphanet:289176 DOID:0050949 SCTID:90505000 |
| definition |
Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. |
| exactMatch |
http://identifiers.org/snomedct/90505000 http://linkedlifedata.com/resource/umls/id/CN202957 |
| has_exact_synonym |
hereditary hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets, autosomal recessive autosomal recessive hereditary hypophosphatemic rickets ARHR |
| id |
MONDO:0017324 |
| in_subset | |
| label |
autosomal recessive hypophosphatemic rickets |
| notation |
MONDO:0017324 |
| prefLabel |
autosomal recessive hypophosphatemic rickets |
| treeView | |
| subClassOf |