ITCMDBv1
DiseaseID 1314

Meier-Blumberg-Imahorn综合征

disease

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by ex

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Disease: 1Symptom: 1Target: 17Links: 25
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Record Fields

Scalar fields from the final disease record.

Disease Id
1314
Core Entity Id
1484
Source Entity Count
1
Preferred Name
Meier Blumberg Imahorn Syndrome
Name Cn
Meier-Blumberg-Imahorn综合征
Name Pinyin
Meier-blumberg-imahorn Zong He Zheng
Name En
Meier Blumberg Imahorn syndrome
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; Nervous System Diseases; Nutritional and Metabolic Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Male Urogenital Diseases
Do Class
genetic disease; disease of metabolism
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
Hpo Class Name
Do Class Name
disease of metabolism; genetic disease
Disease Definition
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by ex
Version
v1
Suppressed
No

Names

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

Name
Meier Blumberg Imahorn Syndrome
Role
preferred
Name
Hypomagnesemia 5, Renal, With Ocular Involvement
Role
preferred
Name
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Role
preferred
Name
HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
Role
preferred
Name
FHHNC WITH SEVERE OCULAR INVOLVEMENT
Role
alias
Name
HOMG5
Role
alias
Name
HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT
Role
alias
Name
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
Role
alias
Name
MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
Role
alias
Name
Renal Hypomagnesemia 5 With Ocular Involvement
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS017157HBDIS020228HBDIS027808
Omim
248190
Umls
C1855466C2931121
Sym Map
SMDE00883SMDE01982SMDE10813
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1855466C2931121C4721891
Orphanet
2196
Umls Sty
T047
Me Sh Class
C10C11C12C13C16C18
Etcm Disease
Hypomagnesemia 5, Renal, with or Without Ocular Involvement
Tcmbank Disease
144971580222629
Itcmdb Generated
ITX-DISEASE-31A1D8A08419

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2v2
Suppress
0
Page Title
Disease Hypomagnesemia 5, Renal, with or Without Ocular Involvement 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
Hypomagnesemia 5, Renal, with or Without Ocular Involvement
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Nephrological diseases
Disease Definition
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by ex
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Male Urogenital DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Male Urogenital 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; Eye Diseases; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome