DiseaseID 7574
低磷酸酯酶症
disease
HPO2016_07_04:An increased concentration of phosphoethanolamine in the urine. [HPO:probinson]
Relationship Network
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Disease: 1Symptom: 12Target: 21Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7574
- Core Entity Id
- 64391
- Source Entity Count
- 1
- Preferred Name
- Hypophosphatasia
- Name Cn
- 低磷酸酯酶症
- Name Pinyin
- Di Lin Suan Zhi Mei Zheng
- Name En
- Hypophosphatasia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Do Class Name
- genetic disease
- Disease Definition
- HPO2016_07_04:An increased concentration of phosphoethanolamine in the urine. [HPO:probinson]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hypophosphatasia
Role
preferred
Name
Acid Phosphatase Deficiency
Role
preferred
Name
Hypophosphatasia, Infantile
Role
preferred
Name
Hypophosphatasia, Perinatal Lethal
Role
preferred
Name
Infantile Hypophosphatasia
Role
preferred
Name
Childhood Hypophosphatasia (Disorder)
Role
preferred
Name
Childhood Hypophosphatasia
Role
alias
Name
HOPS
Role
alias
Name
High Urine Phosphoethanolamine Levels
Role
alias
Name
Hypophosphatasia, Childhood
Role
alias
Name
PHOSPHOETHANOLAMINURIA
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003239
Herb
HBDIS001496HBDIS004521HBDIS006301HBDIS006302HBDIS019261
Me Sh
D007014
Omim
200950241500241510
Umls
C0020630C0268410C0268412C2673477
Icd10
E83.39
Sym Map
SMDE04493SMDE05007SMDE09712SMDE09713SMDE09836
Do Class
DOID:630
Dis Ge Net
C0020630C0220743C0268410C0268412C2673477
Umls Sty
T019T047
Hpo Class
HP:0000119HP:0001939
Me Sh Class
C16C18
Etcm Disease
HypophosphatasiaHypophosphatasia, Infantile
Tcmbank Disease
201386925763180209138
Itcmdb Generated
ITX-DISEASE-3ECA7EF1ED9EITX-DISEASE-9AC618658317ITX-DISEASE-CA018C9A640A
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Hypophosphatasia Details pageDisease Hypophosphatasia, Infantile Details page
Do Class Name
genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Disease Class
genetic disease
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Umls Disease Type
Disease or SyndromeDisease or Syndrome; Congenital Abnormality
Basic Information
Disease Name
Hypophosphatasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Oral diseases
Disease Name
Hypophosphatasia, Infantile
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Oral diseases
Disease Definition
HPO2016_07_04:An increased concentration of phosphoethanolamine in the urine. [HPO:probinson]NCI2016_02D:A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.|MSH2017_2016_08_12:A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)|CSP2006:genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or SyndromeDisease or Syndrome; Congenital Abnormality