loading...| Preferred Name |
Familial Hypophosphatemic Rickets |
|
| Synonyms |
Rickets, Hereditary Vitamin D Resistant Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Vitamin D-Resistant Rickets, X-Linked Hypophosphatemia, X-Linked Hypophosphatemia, X Linked Vitamin D-Resistant Rickets, Hereditary Rickets, Hereditary Vitamin D-Resistant X-Linked Hypophosphatemia X Linked Hypophosphatemia Rickets, X-Linked Hypophosphatemic Generalized Resistance To 1,25-Dihydroxyvitamin D Hypophosphatemic Rickets, X-Linked Dominant Vitamin D Resistant Rickets, Hereditary Hypocalcemic Vitamin D-Resistant Rickets Hypophosphatemic Rickets, X Linked Recessive Hypophosphatemic Rickets, X-Linked Recessive Hereditary Hypophosphatemic Rickets Hereditary Vitamin D-Resistant Rickets Hypophosphatemic Rickets, X-Linked Hypocalcemic Vitamin D Resistant Rickets Hypophosphatemic Rickets, Hereditary Rickets, Familial Hypophosphatemic Vitamin D Resistant Rickets, X Linked Hereditary Vitamin D Resistant Rickets Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol Rickets, Hereditary Hypophosphatemic Generalized Resistance To 1,25 Dihydroxyvitamin D Hypophosphatemic Rickets, Familial X-Linked Hypophosphatemic Rickets Hypophosphatemic Rickets, X Linked Dominant |
|
| Definitions |
A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported. An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE. An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D053098 |
|
| altLabel |
Rickets, Hereditary Vitamin D Resistant Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Vitamin D-Resistant Rickets, X-Linked Hypophosphatemia, X-Linked Hypophosphatemia, X Linked Vitamin D-Resistant Rickets, Hereditary Rickets, Hereditary Vitamin D-Resistant X-Linked Hypophosphatemia X Linked Hypophosphatemia Rickets, X-Linked Hypophosphatemic Generalized Resistance To 1,25-Dihydroxyvitamin D Hypophosphatemic Rickets, X-Linked Dominant Vitamin D Resistant Rickets, Hereditary Hypocalcemic Vitamin D-Resistant Rickets Hypophosphatemic Rickets, X Linked Recessive Hypophosphatemic Rickets, X-Linked Recessive Hereditary Hypophosphatemic Rickets Hereditary Vitamin D-Resistant Rickets Hypophosphatemic Rickets, X-Linked Hypocalcemic Vitamin D Resistant Rickets Hypophosphatemic Rickets, Hereditary Rickets, Familial Hypophosphatemic Vitamin D Resistant Rickets, X Linked Hereditary Vitamin D Resistant Rickets Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol Rickets, Hereditary Hypophosphatemic Generalized Resistance To 1,25 Dihydroxyvitamin D Hypophosphatemic Rickets, Familial X-Linked Hypophosphatemic Rickets Hypophosphatemic Rickets, X Linked Dominant |
|
| AN |
coordinate with GENETIC DISEASES, X-LINKED if X-linked variant is discussed |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1845168 C0733682 C3536984 C3536983 C3540852 |
|
| DC |
1 |
|
| definition |
A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported. An X-linked disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. This disorder is caused by mutations in PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE. An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5. |
|
| DX |
20070101 |
|
| HN |
2014 (2007); use HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, use RICKETS, VITAMIN D-RESISTANT 1972-1993 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2014; see HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 2006-2013; see HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, see RICKETS, VITAMIN D-RESISTANT 1972-1993 |
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567571 http://purl.bioontology.org/ontology/MESH/C562688 http://purl.bioontology.org/ontology/MESH/C562794 http://purl.bioontology.org/ontology/MESH/C562792 http://purl.bioontology.org/ontology/MESH/C562793 http://purl.bioontology.org/ontology/MESH/C562791 |
|
| MDA |
20060705 |
|
| MMR |
20210630 |
|
| MN |
C12.200.777.419.815.647.500 C12.950.419.815.647.500 C18.654.521.500.133.770.734.875.500 C18.452.750.400.750.500 C18.452.174.845.875.500 C18.452.750.400.500.500 C16.320.565.618.544.500 C18.452.104.816.875.500 C18.452.648.618.544.500 C12.050.351.968.419.815.647.500 C16.320.831.647.500 C05.116.198.816.875.500 |
|
| notation |
D053098 |
|
| prefLabel |
Familial Hypophosphatemic Rickets |
|
| TERMUI |
T657987 T830026 T021023 T829636 T830027 T657986 T841609 T801298 T801297 T657984 T657985 T801296 T804979 T801295 |
|
| TH |
OMIM (2013) NLM (1994) GHR (2014) NLM (2007) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |