DiseaseID 2589
睑裂狭小综合征Ohdo型
disease
JABL99:A syndrome of delayed development, blepharophimosis, blepharoptosis, dental hypoplasia, deafness, heart defect, cryptorchidism and scrotal hypoplasia in males, and other abnormalities.
Relationship Network
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Disease: 1Symptom: 2Target: 8Links: 10
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2589
- Core Entity Id
- 2930
- Source Entity Count
- 1
- Preferred Name
- Blepharophimosis Syndrome Ohdo Type
- Name Cn
- 睑裂狭小综合征Ohdo型
- Name Pinyin
- Jian Lie Xia Xiao Zong He Zheng Ohdo Xing
- Name En
- Blepharophimosis Syndrome Ohdo Type
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- syndrome
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- syndrome
- Disease Definition
- JABL99:A syndrome of delayed development, blepharophimosis, blepharoptosis, dental hypoplasia, deafness, heart defect, cryptorchidism and scrotal hypoplasia in males, and other abnormalities.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Blepharophimosis Syndrome Ohdo Type
Role
preferred
Name
Ohdo Syndrome, Maat-Kievit-Brunner Type
Role
preferred
Name
Ohdo Syndrome
Role
alias
Name
Ohdo Syndrome, X-Linked
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011692HBDIS029439
Omim
249620300895
Umls
C0796094
Sym Map
SMDE06486
Do Class
DOID:225
Dis Ge Net
C0796094C3698541
Umls Sty
T047
Me Sh Class
C10C11C14C16C23F01F03
Tcmbank Disease
23793
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
syndrome
Disease Type
disease
Do Disease Class
syndrome
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:A syndrome of delayed development, blepharophimosis, blepharoptosis, dental hypoplasia, deafness, heart defect, cryptorchidism and scrotal hypoplasia in males, and other abnormalities.
Me Sh Disease Class
Cardiovascular Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Eye Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome