ITCMDBv1
DiseaseID 10862

佝偻病

disease

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

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Disease: 1Experiment: 1Herb: 11Symptom: 12Target: 24Links: 48
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Record Fields

Scalar fields from the final disease record.

Disease Id
10862
Core Entity Id
68130
Source Entity Count
1
Preferred Name
Rickets
Name Cn
佝偻病
Name Pinyin
Gou Lou Bing
Name En
Rickets
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Male Urogenital Diseases; Musculoskeletal DiseasesNutritional and Metabolic Diseases; Musculoskeletal Diseases
Do Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Class
Abnormality of the skeletal system
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital DiseasesNutritional and Metabolic Diseases; Musculoskeletal Diseases
Hpo Class Name
Abnormality of the skeletal system
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Definition
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Rickets
Role
preferred
Name
Autosomal Recessive Hypophosphatemic Rickets
Role
preferred
Name
Hypocalcemic Vitamin D-Resistant Rickets
Role
preferred
Name
Hypophosphatemic Rickets, Autosomal Recessive, 1
Role
preferred
Name
Hypophosphatemic Rickets, Autosomal Recessive, 2
Role
preferred
Name
Hypophosphatemic Rickets, X-Linked Dominant
Role
preferred
Name
Hypophosphatemic Rickets, X-Linked Recessive
Role
preferred
Name
Rickets, X-Linked Hypophosphatemic
Role
preferred
Name
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Role
preferred
Name
Vitamin D-Dependent Rickets, Type 2A
Role
preferred
Name
Vitamin D-Resistant Rickets, X-Linked
Role
preferred
Name
X-Linked Hypophosphatemia
Role
preferred
Name
Autosomal Dominant Hypophosphatemic Rickets
Role
preferred
Name
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
Role
preferred
Name
Familial Hypophosphatemic Rickets
Role
preferred
Name
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Role
preferred
Name
Vitamin D-Dependent Rickets
Role
preferred
Name
Vitamin D-Dependent Rickets, Type 1
Role
preferred
Name
25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
Role
alias
Name
25-Hydroxycholecalciferol-1-Hydroxylase Deficiency
Role
alias
Name
ARHP
Role
alias
Name
ARHR
Role
alias
Name
ARHR1
Role
alias
Name
ARHR2
Role
alias
Name
GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D
Role
alias
Name
HPDR
Role
alias
Name
HVDRR
Role
alias
Name
HYP
Role
alias
Name
HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
Role
alias
Name
HYPOPHOSPHATEMIA, X-LINKED
Role
alias
Name
HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS
Role
alias
Name
Hereditary Vitamin D-resistant Rickets
Role
alias
Name
Hypophosphatemic Rickets, Autosomal Dominant
Role
alias
Name
PDDR IIA
Role
alias
Name
PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA
Role
alias
Name
PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY
Role
alias
Name
RICKETS, HEREDITARY VITAMIN D-RESISTANT
Role
alias
Name
RICKETS-ALOPECIA SYNDROME
Role
alias
Name
Rickets, Active
Role
alias
Name
VDDR II
Role
alias
Name
VDDR1B
Role
alias
Name
VDDR2A
Role
alias
Name
VDRR II
Role
alias
Name
VITAMIN D-DEPENDENT RICKETS, TYPE 1B
Role
alias
Name
VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA
Role
alias
Name
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
Role
alias
Name
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Role
alias
Name
Vitamin D-dependent Rickets Type II
Role
alias
Name
Vitamin D-resistant Rickets Type II
Role
alias
Name
X-Linked Dominant Hypophosphatemic Rickets
Role
alias
Name
X-Linked Recessive Hypophosphatemic Rickets
Role
alias
Name
X-linked Hypophosphatemic Rickets
Role
alias
Name
XLH
Role
alias
Name
XLHR
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0002748
Herb
HBDIS002646HBDIS004653HBDIS006400HBDIS008039HBDIS008040HBDIS008041HBDIS010774HBDIS015705HBDIS016194HBDIS019835HBDIS021608HBDIS021609HBDIS021637HBDIS027200
Me Sh
D012279D053098
Omim
193100241520264700277440300554307800600081600785613312
Umls
C0035579C0342642C0342643C0342646C0733682C1704375C1838657C1845168C1853271C2750078C3536983C3536984C3540852
Icd10
E55.0E83.3
Sym Map
SMDE00602SMDE00893SMDE01246SMDE01352SMDE01584SMDE01631SMDE02590SMDE03201SMDE03409SMDE03709SMDE04546SMDE12896SMDE12897SMDE14309
Do Class
DOID:630DOID:7
Dis Ge Net
C0035579C0221468C0268689C0342642C0342643C0342646C0733682C1838657C1845168C2750078C3536983C3536984C3540852C4551495
Orphanet
157215289176899368993793160
Umls Sty
T047
Hpo Class
HP:0000924
Me Sh Class
C05C12C13C16C18
Etcm Disease
Autosomal Recessive Hypophosphatemic RicketsHypophosphatemic Rickets, Autosomal Recessive, 1Hypophosphatemic Rickets, Autosomal Recessive, 2Hypophosphatemic Rickets, X-Linked DominantHypophosphatemic Rickets, X-Linked Recessive
Tcmbank Disease
108711136911982127371274416868193972188125926259312809628903649767828641
Itcmdb Generated
ITX-DISEASE-2ECFE16F60F6ITX-DISEASE-2EDDE58854A0ITX-DISEASE-43F1AE570E24ITX-DISEASE-7007211BE62FITX-DISEASE-93DFC2B5996FITX-DISEASE-9C9EB319EEB6ITX-DISEASE-BB4BE28ECDE6ITX-DISEASE-BC0F80AB539EITX-DISEASE-D55C81F764E8

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2v2
Suppress
0
Page Title
Disease Autosomal Recessive Hypophosphatemic Rickets Details pageDisease Hypophosphatemic Rickets, Autosomal Recessive, 1 Details pageDisease Hypophosphatemic Rickets, Autosomal Recessive, 2 Details pageDisease Hypophosphatemic Rickets, X-Linked Dominant Details pageDisease Hypophosphatemic Rickets, X-Linked Recessive Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the skeletal system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the skeletal system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Autosomal Recessive Hypophosphatemic Rickets
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Muscle diseases;Nephrological diseases
Disease Name
Hypophosphatemic Rickets, Autosomal Recessive, 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Muscle diseases;Nephrological diseases
Disease Name
Hypophosphatemic Rickets, Autosomal Recessive, 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Muscle diseases;Nephrological diseases
Disease Name
Hypophosphatemic Rickets, X-Linked Dominant
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Nephrological diseases
Disease Name
Hypophosphatemic Rickets, X-Linked Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Nephrological diseases
Disease Definition
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteHypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.MSH2017_2016_08_12:An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5.NCI2016_02D:An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.|MSH2017_2016_08_12: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.NCI2016_NICHD_1602D:Reduced bone density in children secondary to a deficiency or defective metabolism of vitamin D, calcium, or phosphorus.|NCI2016_02D:Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.|MSH2017_2016_08_12:Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances.|MEDLINEPLUS_20151021:<p>Rickets causes soft, weak bones in children. It usually occurs when they do not get enough <a href='https://www.nlm.nih.gov/medlineplus/vitamind.html'>vitamin D</a>, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low.</p> <p>Your child might not get enough vitamin D if he or she</p> <ul> <li>Has dark skin</li> <li>Spends too little time outside</li> <li>Has on sunscreen all the time when out of doors</li> <li>Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet</li> <li>Is breastfed without receiving vitamin D supplements</li> <li>Can't make or use vitamin D because of a medical disorder such as celiac disease</li> </ul> <p>In addition to dietary rickets, children can get an inherited form of the disease. Symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. Your child's doctor uses lab and imaging tests to make the diagnosis. Treatment is replacing the calcium, phosphorus, or vitamin D that are lacking in the diet. Rickets is rare in the United States.</p>|CSP2006:disorder of calcium and phosphorus metabolism affecting bony structures, due to a variety of defects in vitamin D, calcium, and phosphorous homeostasis, including dietary deficiencies or malabsorption.|CHV2011_02:a condition caused by vitamin D deficiency|CHV2011_02:a condition caused by vitamin D deficiency|CHV2011_02:a condition caused by vitamin D deficiencyX-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Male Urogenital Diseases; Musculoskeletal DiseasesNutritional and Metabolic Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital DiseasesNutritional and Metabolic Diseases; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome