| Descriptor English: | Familial Hypophosphatemic Rickets | ||||||
| Descriptor Spanish: |
Raquitismo Hipofosfatémico Familiar
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| Descriptor Portuguese: | Raquitismo Hipofosfatêmico Familiar | ||||||
| Descriptor French: | Rachitisme hypophosphatémique familial | ||||||
| Entry term(s): |
Generalized Resistance To 1,25 Dihydroxyvitamin D Generalized Resistance To 1,25-Dihydroxyvitamin D Hereditary Hypophosphatemic Rickets Hereditary Vitamin D Resistant Rickets Hereditary Vitamin D-Resistant Rickets Hypocalcemic Vitamin D Resistant Rickets Hypocalcemic Vitamin D-Resistant Rickets Hypophosphatemia, X Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemic Rickets, Hereditary Hypophosphatemic Rickets, X Linked Dominant Hypophosphatemic Rickets, X Linked Recessive Hypophosphatemic Rickets, X-Linked Hypophosphatemic Rickets, X-Linked Dominant Hypophosphatemic Rickets, X-Linked Recessive Rickets, Familial Hypophosphatemic Rickets, Hereditary Hypophosphatemic Rickets, Hereditary Vitamin D Resistant Rickets, Hereditary Vitamin D-Resistant Rickets, X-Linked Hypophosphatemic Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol Vitamin D Resistant Rickets, Hereditary Vitamin D Resistant Rickets, X Linked Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Vitamin D-Resistant Rickets, Hereditary Vitamin D-Resistant Rickets, X-Linked X Linked Hypophosphatemia X-Linked Hypophosphatemia X-Linked Hypophosphatemic Rickets |
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| Tree number(s): |
C05.116.198.816.875.500 C12.050.351.968.419.815.647.500 C12.200.777.419.815.647.500 C12.950.419.815.647.500 C16.320.565.618.544.500 C16.320.831.647.500 C18.452.104.816.875.500 C18.452.174.845.875.500 C18.452.648.618.544.500 C18.452.750.400.500.500 C18.452.750.400.750.500 C18.654.521.500.133.770.734.875.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D053098 | ||||||
| Scope note: | 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. |
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| Annotation: | coordinate with GENETIC DISEASES, X-LINKED if X-linked variant is discussed |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Hypophosphatemia, Familial (1965-2006) Rickets (1965-2006) Vitamin D (1965-2006) |
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| Public MeSH Note: | 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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| History Note: | 2014 (2007); use HYPOPHOSPHATEMIA, FAMILIAL 1994-2006, use RICKETS, VITAMIN D-RESISTANT 1972-1993 |
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| DeCS ID: | 52099 | ||||||
| Unique ID: | D053098 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2007/01/01 | ||||||
| Date of Entry: | 2006/07/05 | ||||||
| Revision Date: | 2018/11/19 |
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Familial Hypophosphatemic Rickets
- Preferred
Vitamin D-Resistant Rickets, X-Linked
- Narrower
Hypophosphatemic Rickets, X-Linked Recessive
- Narrower
Rickets, X-Linked Hypophosphatemic
- Narrower
Hypophosphatemic Rickets, X-Linked Dominant
- Narrower
| Concept UI |
M0577083 |
| Scope note | 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. |
| Preferred term | Familial Hypophosphatemic Rickets |
| Entry term(s) |
Generalized Resistance To 1,25 Dihydroxyvitamin D Generalized Resistance To 1,25-Dihydroxyvitamin D Hereditary Hypophosphatemic Rickets Hereditary Vitamin D Resistant Rickets Hereditary Vitamin D-Resistant Rickets Hypocalcemic Vitamin D Resistant Rickets Hypocalcemic Vitamin D-Resistant Rickets Hypophosphatemic Rickets, Familial Hypophosphatemic Rickets, Hereditary Rickets, Familial Hypophosphatemic Rickets, Hereditary Hypophosphatemic Rickets, Hereditary Vitamin D Resistant Rickets, Hereditary Vitamin D-Resistant Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol Vitamin D Resistant Rickets, Hereditary Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Vitamin D-Resistant Rickets, Hereditary |
| Concept UI |
M0577257 |
| Preferred term | Vitamin D-Resistant Rickets, X-Linked |
| Entry term(s) |
Vitamin D Resistant Rickets, X Linked |
| Concept UI |
M0564788 |
| Scope note | An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5. |
| Preferred term | Hypophosphatemic Rickets, X-Linked Recessive |
| Entry term(s) |
Hypophosphatemic Rickets, X Linked Recessive |
| Concept UI |
M0577258 |
| Preferred term | Rickets, X-Linked Hypophosphatemic |
| Entry term(s) |
Hypophosphatemia, X Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, X-Linked X Linked Hypophosphatemia X-Linked Hypophosphatemia X-Linked Hypophosphatemic Rickets |
| Concept UI |
M0010917 |
| Scope note | 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. |
| Preferred term | Hypophosphatemic Rickets, X-Linked Dominant |
| Entry term(s) |
Hypophosphatemic Rickets, X Linked Dominant |
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