loading...| Preferred Name |
Tumoral Calcinosis, Hyperphosphatemic, Familial |
| Synonyms |
Morbus Teutschlaender |
| ID |
http://purl.bioontology.org/ontology/MESH/C566870 |
| altLabel |
Morbus Teutschlaender Hyperphosphatemia Hyperostosis Tumoral Calcinosis, Primary Hyperphosphatemic Hyperphosphatemia Tumoral Calcinosis Primary Hyperphosphatemic Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Lipocalcinogranulomatosis Teutschlaender Disease, Familial Hyperphosphatemic Familial Tumoral Calcinosis Hyperphosphatemia Hyperostosis Syndrome |
| cui |
C1876187 |
| HM |
D002114 D006958 D054559 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D002114 |
| MDA |
20121105 |
| MeSH Frequency |
34 |
| MMR |
20151110 |
| notation |
C566870 |
| prefLabel |
Tumoral Calcinosis, Hyperphosphatemic, Familial |
| SC |
3 |
| Scope Statement |
A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. Hyperphosphatemia is caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 or GALNT3 gene. OMIM: 211900 |
| TERMUI |
T809304 T841711 T809300 T841710 T809302 T841709 T809298 T809301 T809299 T841713 T841712 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |