DiseaseID 26035
Opitz GBBB综合征II型
Opitz Gbbb Syndrome, Type Ii
NCI2016_02D:An X-linked syndrome caused by mutations in the MID1 gene or autosomal dominant syndrome caused by changes in chromosome 22. It is characterized by ocular hypertelorism, and defects of the larynx, trachea, or
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Disease: 1Symptom: 2Target: 8Links: 10
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26035
- Core Entity Id
- 118603
- Source Entity Count
- 1
- Preferred Name
- Opitz Gbbb Syndrome, Type Ii
- Name Cn
- Opitz GBBB综合征II型
- Name Pinyin
- Opitz gbbb Zong He Zheng Ii Xing
- Name En
- Opitz Gbbb Syndrome, Type Ii
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:An X-linked syndrome caused by mutations in the MID1 gene or autosomal dominant syndrome caused by changes in chromosome 22. It is characterized by ocular hypertelorism, and defects of the larynx, trachea, or esophagus. Most males have hypospadias, cryptorchidism, underdeveloped scrotum, or a scrotum divided into two lobes. Mild intellectual disability and developmental delays occur in approximately half of the affected individuals.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Opitz Gbbb Syndrome, Type Ii
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1801950
Sym Map
SMDE01666
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:An X-linked syndrome caused by mutations in the MID1 gene or autosomal dominant syndrome caused by changes in chromosome 22. It is characterized by ocular hypertelorism, and defects of the larynx, trachea, or esophagus. Most males have hypospadias, cryptorchidism, underdeveloped scrotum, or a scrotum divided into two lobes. Mild intellectual disability and developmental delays occur in approximately half of the affected individuals.