DiseaseID 2450
涎酸尿症
disease
ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bl
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Disease: 1Herb: 1Symptom: 12Target: 24Links: 37
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2450
- Core Entity Id
- 2765
- Source Entity Count
- 1
- Preferred Name
- Sialuria
- Name Cn
- 涎酸尿症
- Name Pinyin
- Xian Suan Niao Zheng
- Name En
- Sialuria
- 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 DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesNervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; genetic diseasegenetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bl
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Sialuria
Role
preferred
Name
Alg13-Cdg
Role
preferred
Name
Epileptic Encephalopathy, Early Infantile, 36
Role
preferred
Name
Infantile Sialic Acid Storage Disease
Role
preferred
Name
N-Acetylneuraminic Acid Storage Disease
Role
preferred
Name
Alg6-Cdg
Role
preferred
Name
Alg8-Cdg
Role
preferred
Name
B4Galt1-Cdg
Role
preferred
Name
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Role
preferred
Name
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
Role
preferred
Name
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
Role
preferred
Name
Cog2-Cdg
Role
preferred
Name
Cog7-Cdg
Role
preferred
Name
Congenital Disorder Of Glycosylation, Type IIB
Role
preferred
Name
Congenital Disorder Of Glycosylation, Type Ig
Role
preferred
Name
Congenital Disorder Of Glycosylation, Type Iia
Role
preferred
Name
Congenital Disorder Of Glycosylation, Type Ik
Role
preferred
Name
Congenital Disorder Of Glycosylation, Type Il
Role
preferred
Name
Congenital Disorder Of Glycosylation, Type In
Role
preferred
Name
Congenital Disorder of Glycosylation Type 1S
Role
preferred
Name
Dk1-Cdg
Role
preferred
Name
Dpagt1-Cdg
Role
preferred
Name
Mpdu1-Cdg
Role
preferred
Name
Mpi-Cdg
Role
preferred
Name
Polycystic Kidney Disease, Potter Type I, With Microbrachycephaly, Hypertelorism, And Brachymelia
Role
preferred
Name
Sialic Acid Storage Disease, Finnish Type (Disorder)
Role
preferred
Name
Slc35A1-Cdg
Role
preferred
Name
Ssr4-Cdg
Role
preferred
Name
Stt3A-Cdg
Role
preferred
Name
Stt3B-Cdg
Role
preferred
Name
CDG Is
Role
alias
Name
CDG Syndrome Type Is
Role
alias
Name
CDG1S
Role
alias
Name
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is
Role
alias
Name
Congenital Disorder of Glycosylation Id
Role
alias
Name
Congenital Disorder of Glycosylation Ie
Role
alias
Name
Congenital Disorder of Glycosylation Ii
Role
alias
Name
Congenital Disorder of Glycosylation In
Role
alias
Name
Congenital Disorder of Glycosylation Type 1D
Role
alias
Name
Congenital Disorder of Glycosylation Type 1E
Role
alias
Name
Congenital Disorder of Glycosylation Type Ii
Role
alias
Name
EIEE36
Role
alias
Name
Early Infantile Epileptic Encephalopathy 36
Role
alias
Name
Gikanis
Role
alias
Name
Gillessen-Kaesbach-Nishimura Syndrome
Role
alias
Name
ISSD
Role
alias
Name
NANA STORAGE DISEASE
Role
alias
Name
NSD
Role
alias
Name
SIALURIA, INFANTILE FORM
Role
alias
Name
Salla Disease
Role
alias
Name
Sialic Acid Storage Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008087HBDIS012634HBDIS012635HBDIS015110HBDIS015563HBDIS015969HBDIS016647HBDIS016981HBDIS019514HBDIS021706HBDIS026447HBDIS029212
Me Sh
D029461
Omim
263210269920269921300884601110604369606056607906608799612015
Umls
C0342853C1096902C1832736C1835849C1836669C1837396C1842836C1853736C1865145C1970344C2677590C2930923C2930997C2931001C2931002C2931004C2931005C2931006C2931007C2931008C2931009C2931010C2931471C3550904
Icd10
E77.8
Med Dra
10067529
Sym Map
SMDE00021SMDE00244SMDE00486SMDE00609SMDE00643SMDE00678SMDE00736SMDE00827SMDE00937SMDE01450SMDE01643SMDE01929SMDE02024SMDE02352SMDE02808SMDE02902SMDE03260SMDE03282SMDE03296SMDE03726SMDE03730SMDE04413SMDE04573SMDE04688SMDE04799SMDE04802SMDE11274
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0342853C1096902C1096903C1832736C1837396C1842836C1849762C1853736C2677590C2930923C3550904C4317295
Orphanet
238459244310316632442237092137092437092743593479319793207932179322793237932479325793267932779328793297933079332793338630991131
Umls Sty
T047
Me Sh Class
C05C10C12C13C16C18
Etcm Disease
Congenital Disorder of Glycosylation, Type IdCongenital Disorder of Glycosylation, Type IeCongenital Disorder of Glycosylation, Type IgCongenital Disorder of Glycosylation, Type IiCongenital Disorder of Glycosylation, Type IiaCongenital Disorder of Glycosylation, Type IibCongenital Disorder of Glycosylation, Type IkCongenital Disorder of Glycosylation, Type IlCongenital Disorder of Glycosylation, Type inEpileptic Encephalopathy, Early Infantile, 36Infantile Sialic Acid Storage Disease
Tcmbank Disease
1949321786243072492426281285462988312993193442384452
Itcmdb Generated
ITX-DISEASE-0E578E75193AITX-DISEASE-1AA902B5A861ITX-DISEASE-1B66A922D169ITX-DISEASE-42D72601633EITX-DISEASE-5C22BE83ECC6ITX-DISEASE-870496D4EB95ITX-DISEASE-928C792261B8ITX-DISEASE-ADB03982BBCEITX-DISEASE-B5B10263E658ITX-DISEASE-C6E1181A8A72ITX-DISEASE-CFAACF111C34ITX-DISEASE-DDF8C7B62D51ITX-DISEASE-EEE8316A5A30ITX-DISEASE-EF9D423DBC12
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Congenital Disorder of Glycosylation, Type Id Details pageDisease Congenital Disorder of Glycosylation, Type Ie Details pageDisease Congenital Disorder of Glycosylation, Type Ig Details pageDisease Congenital Disorder of Glycosylation, Type Ii Details pageDisease Congenital Disorder of Glycosylation, Type Iia Details pageDisease Congenital Disorder of Glycosylation, Type Iib Details pageDisease Congenital Disorder of Glycosylation, Type Ik Details pageDisease Congenital Disorder of Glycosylation, Type Il Details pageDisease Congenital Disorder of Glycosylation, Type in Details pageDisease Epileptic Encephalopathy, Early Infantile, 36 Details pageDisease Infantile Sialic Acid Storage Disease Details page
Do Class Name
disease of metabolism; genetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic diseasegenetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Congenital Disorder of Glycosylation, Type Id
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type Ie
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type Ig
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type Ii
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type Iia
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type Iib
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type Ik
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type Il
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Congenital Disorder of Glycosylation, Type in
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 36
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Infantile Sialic Acid Storage Disease
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Nephrological diseases;Neuronal diseases
Disease Definition
ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased blALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing entB4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one casCOG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from diDPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional featMPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (proteinSLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor developmeSTT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mSTT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hSialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive,The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, sei
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesMale Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal DiseasesNervous System DiseasesNervous System 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; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNervous System Diseases
Umls Semantic Type Name
Disease or Syndrome