DiseaseID 937

Heimler综合征1型

disease

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Disease: 1Symptom: 3Target: 21Links: 27
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Record Fields

Scalar fields from the final disease record.

Disease Id
937
Core Entity Id
1059
Source Entity Count
1
Preferred Name
Heimler Syndrome 1
Name Cn
Heimler综合征1型
Name Pinyin
Heimler Zong He Zheng 1 Xing
Name En
Heimler Syndrome 1
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
Do Class
Hpo Class
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
Hpo Class Name
Do Class Name
Disease Definition
Version
v1,v2
Suppressed
No

Names

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

Name
Heimler Syndrome 1
Role
preferred
Name
Deafness Enamel Hypoplasia Nail Defects
Role
preferred
Name
HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS
Role
alias
Name
HMLR1
Role
alias
Name
PBD1C
Role
alias
Name
PEROXISOME BIOGENESIS DISORDER 1C
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS017274HBDIS027368
Omim
234580
Umls
C1856186
Sym Map
SMDE03389
Dis Ge Net
C1856186C4551980
Umls Sty
T047
Me Sh Class
C07C09C10C16C23
Etcm Disease
Deafness Enamel Hypoplasia Nail DefectsHeimler Syndrome 1
Tcmbank Disease
153517880
Itcmdb Generated
ITX-DISEASE-00DD0E7706D6ITX-DISEASE-F74DCBDEC920

Attributes

Merged source attributes and domain-specific metadata.

Version
v1,v2
Suppress
0
Page Title
Disease Deafness Enamel Hypoplasia Nail Defects Details pageDisease Heimler Syndrome 1 Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Deafness Enamel Hypoplasia Nail Defects
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Ear diseases;Oral diseases;Skin diseases
Disease Name
Heimler Syndrome 1
Global Category
Genetic diseases
Anatomical Category
Ear diseases
Me Sh Disease Class
Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Disease or Syndrome