DiseaseID 11231
胼胝体发育不全伴面部异常及Robin序列征
disease
JABL99:Multiple congenital anomaly consisting of agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, malformed ears, redundant neck skin, laryngeal ab
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Disease: 1Formula: 20Herb: 7Symptom: 1Target: 19Links: 52
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11231
- Core Entity Id
- 68596
- Source Entity Count
- 1
- Preferred Name
- Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
- Name Cn
- 胼胝体发育不全伴面部异常及Robin序列征
- Name Pinyin
- Pian Zhi Ti Fa Yu Bu Quan Ban Mian Bu Yi Chang Ji Robin Xu Lie Zheng
- Name En
- Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:Multiple congenital anomaly consisting of agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, malformed ears, redundant neck skin, laryngeal abnormalities, heart defect, short hands, hypotonia, occasional Hirschsprung disease, and moderate to severe developmental delay.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011710
Omim
217980
Umls
C0796184
Sym Map
SMDE07586
Dis Ge Net
C0796184
Umls Sty
T047
Me Sh Class
C05C07C10C12C13C14C16C23
Etcm Disease
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Tcmbank Disease
788
Itcmdb Generated
ITX-DISEASE-32D6D642D86B
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
JABL99:Multiple congenital anomaly consisting of agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, malformed ears, redundant neck skin, laryngeal abnormalities, heart defect, short hands, hypotonia, occasional Hirschsprung disease, and moderate to severe developmental delay.
Me Sh Disease Class
Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome