DiseaseID 22092
Potocki-Lupski综合征
disease
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding,
Relationship Network
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 22092
- Core Entity Id
- 80878
- Source Entity Count
- 1
- Preferred Name
- Potocki-Lupski Syndrome
- Name Cn
- Potocki-Lupski综合征
- Name Pinyin
- Potocki-lupski Zong He Zheng
- Name En
- Potocki-Lupski Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding,
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Potocki-Lupski Syndrome
Role
preferred
Name
5Q35 Microduplication Syndrome
Role
preferred
Name
15Q11Q13 Microduplication Syndrome
Role
preferred
Name
17P11.2 Microduplication Syndrome
Role
preferred
Name
17P13.3 Microduplication Syndrome
Role
preferred
Name
17Q11.2 Microduplication Syndrome
Role
preferred
Name
22Q11.2 Microduplication Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS020260HBDIS026181
Umls
C1970482C2675336C2675369C2750748C2931246C3150928
Icd10
Q92.3
Sym Map
SMDE01032SMDE03035SMDE03173SMDE03798SMDE04273SMDE05121SMDE12376
Do Class
DOID:630
Dis Ge Net
C2931246C4304526
Orphanet
13947417131727217385228415238446
Umls Sty
T047
Me Sh Class
C16C23
Tcmbank Disease
165883641
Itcmdb Generated
ITX-DISEASE-1A2D0456E4F2ITX-DISEASE-8E7226708D40
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Disease Definition
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.NCI2016_02D:A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11.The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or vThe newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
Umls Semantic Type Name
Disease or Syndrome