DiseaseID 7363

Allanson Pantzar Mcleod 综合征

disease

HPO2016_07_04:A developmental defect characterized by absence or poor development of proximal renal tubules. [HPO:probinson]

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Disease: 1Target: 5Links: 5
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Record Fields

Scalar fields from the final disease record.

Disease Id
7363
Core Entity Id
64145
Source Entity Count
1
Preferred Name
Allanson Pantzar Mcleod Syndrome
Name Cn
Allanson Pantzar Mcleod 综合征
Name Pinyin
Allanson pantzar mcleod Zong He Zheng
Name En
Allanson Pantzar Mcleod Syndrome
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
Do Class
Hpo Class
Abnormality of the genitourinary system
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
Hpo Class Name
Abnormality of the genitourinary system
Do Class Name
Disease Definition
HPO2016_07_04:A developmental defect characterized by absence or poor development of proximal renal tubules. [HPO:probinson]
Version
v1
Suppressed
No

Names

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

Name
Allanson Pantzar Mcleod Syndrome
Role
preferred
Name
Renal Tubular Dysgenesis
Role
preferred
Name
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Role
preferred
Name
PRIMITIVE RENAL TUBULE SYNDROME
Role
alias
Name
RTD
Role
alias
Name
Renotubular Dysgenesis
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0008660
Herb
HBDIS005976HBDIS019549
Omim
267430
Umls
C0266313C2678367
Sym Map
SMDE03228
Dis Ge Net
C0266313C2678367
Umls Sty
T047
Hpo Class
HP:0000119
Me Sh Class
C08C09C12C13C16
Tcmbank Disease
2449829277
Itcmdb Generated
ITX-DISEASE-CD8DD1958D7D

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Disease Type
disease
Hpo Class Name
Abnormality of the genitourinary system
Hpo Disease Class
Abnormality of the genitourinary system
Umls Disease Type
Disease or Syndrome
Disease Definition
HPO2016_07_04:A developmental defect characterized by absence or poor development of proximal renal tubules. [HPO:probinson]
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract 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; Male Urogenital DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Disease or Syndrome