DiseaseID 7518
遗传性乳清酸尿症
disease
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing ur
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 6Symptom: 12Target: 20Links: 42
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7518
- Core Entity Id
- 64320
- Source Entity Count
- 1
- Preferred Name
- Hereditary Orotic Aciduria
- Name Cn
- 遗传性乳清酸尿症
- Name Pinyin
- Yi Chuan Xing Ru Qing Suan Niao Zheng
- Name En
- Hereditary Orotic Aciduria
- 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 DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing ur
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hereditary Orotic Aciduria
Role
preferred
Name
2,8-Dihydroxyadenine Urolithiasis
Role
preferred
Name
Adenine Phosphoribosyltransferase Deficiency
Role
preferred
Name
Adenylosuccinate Lyase Deficiency
Role
preferred
Name
Aicar Transformylase/Imp Cyclohydrolase Deficiency
Role
preferred
Name
Arts Syndrome
Role
preferred
Name
APRT Deficiency
Role
alias
Name
APRTD
Role
alias
Name
NEPHROLITHIASIS, DHA
Role
alias
Name
UROLITHIASIS, 2,8-DIHYDROXYADENINE
Role
alias
Name
UROLITHIASIS, DHA
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004538HBDIS006182HBDIS021949
Omim
614723
Umls
C0220987C0268120C0268126C0796028C1837530C3665382
Icd10
E79.8
Med Dra
10052621
Sym Map
SMDE00545SMDE00847SMDE02792SMDE04269SMDE04844SMDE05241
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0220987C0268120C3665382
Orphanet
11872509773046976
Umls Sty
T047
Me Sh Class
C12C13C16C18
Etcm Disease
Adenine Phosphoribosyltransferase DeficiencyAicar Transformylase/imp Cyclohydrolase DeficiencyArts Syndrome
Tcmbank Disease
189352580728512
Itcmdb Generated
ITX-DISEASE-084B0C7815B8ITX-DISEASE-1A18890238A3ITX-DISEASE-547AB0953144ITX-DISEASE-DD20FFD18F57
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Adenine Phosphoribosyltransferase Deficiency Details pageDisease Aicar Transformylase/imp Cyclohydrolase Deficiency Details pageDisease Arts Syndrome Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Adenine Phosphoribosyltransferase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases
Disease Name
Aicar Transformylase/imp Cyclohydrolase Deficiency
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Arts Syndrome
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Mental diseases;Neuronal diseases
Disease Definition
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urAdenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotiJABL99:A disorder marked by an early onset floppiness, ataxia, liability to infection, deafness, blindness, tetraplegia and areflexia.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; 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 DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome