DiseaseID 1284
Nager综合征
disease
Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
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Disease: 1Experiment: 1Herb: 6Symptom: 12Target: 27Links: 46
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1284
- Core Entity Id
- 1450
- Source Entity Count
- 1
- Preferred Name
- Nager Syndrome
- Name Cn
- Nager综合征
- Name Pinyin
- Nager Zong He Zheng
- Name En
- Nager Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMusculoskeletal Diseases
- Do Class
- disease of anatomical entitygenetic disease
- Hpo Class
- Abnormality of head or neck; Abnormality of the skeletal system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Abnormality of head or neck; Abnormality of the skeletal system
- Do Class Name
- disease of anatomical entitygenetic disease
- Disease Definition
- Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Nager Syndrome
Role
preferred
Name
Acrodysostosis 2 With Or Without Hormone Resistance
Role
preferred
Name
Acrofacial Dysostosis
Role
preferred
Name
Treacher Collins Syndrome 2
Role
preferred
Name
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
Role
preferred
Name
Acrodysostosis
Role
preferred
Name
Acrofacial Dysostosis, Rodríguez Type
Role
preferred
Name
Acrofacial Dysostosis, Weyers Type
Role
preferred
Name
Mandibulofacial Dysostosis
Role
preferred
Name
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive
Role
preferred
Name
Peripheral Dysostosis
Role
preferred
Name
Postaxial Acrofacial Dysostosis
Role
preferred
Name
Treacher-Collins Syndrome
Role
preferred
Name
ACRDYS2
Role
alias
Name
Acrofacial Dysostosis 1, Nager Type
Role
alias
Name
Acrofacial Dysostosis, Nager Type
Role
alias
Name
Nager Acrofacial Dysostosis
Role
alias
Name
TCS2
Role
alias
Name
Treacher Collins Syndrome
Role
alias
Name
Treacher Collins Syndrome 1
Role
alias
Name
Treacher Collins Syndrome 3
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0005321
Herb
HBDIS004495HBDIS005421HBDIS005771HBDIS013577HBDIS017153HBDIS020735HBDIS021110HBDIS021743HBDIS027767
Me Sh
D008342
Omim
101800154500170700248390613717614613
Umls
C0220659C0265241C0265245C0265257C0457013C1332140C1860119C3150983C3276228C3553250
Icd10
Q75.4
Med Dra
10051456
Sym Map
SMDE00337SMDE01387SMDE01614SMDE01793SMDE02837SMDE03182SMDE03183SMDE03976SMDE04249SMDE05392
Do Class
DOID:630DOID:7
Dis Ge Net
C0220659C0242387C0265245C1332140C1855433C3150983C3276228C3553250C4721502
Orphanet
1788245246861950952
Umls Sty
T047
Hpo Class
HP:0000152HP:0000924
Me Sh Class
C05C10C11C16C23F01F03
Etcm Disease
AcrodysostosisAcrodysostosis 1 with or Without Hormone ResistanceAcrodysostosis 2 with or Without Hormone Resistance
Tcmbank Disease
1437204262177259783108328520188929079
Itcmdb Generated
ITX-DISEASE-22B125FC5451ITX-DISEASE-70F4EA5CB4D0ITX-DISEASE-7EE958EFB2C6ITX-DISEASE-8421FD00B34BITX-DISEASE-9E9A376C5A95ITX-DISEASE-9F420EC00EBA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Acrodysostosis 1 with or Without Hormone Resistance Details pageDisease Acrodysostosis 2 with or Without Hormone Resistance Details pageDisease Acrodysostosis Details page
Do Class Name
disease of anatomical entitygenetic disease
Disease Type
disease
Hpo Class Name
Abnormality of head or neck; Abnormality of the skeletal system
Do Disease Class
disease of anatomical entitygenetic disease
Hpo Disease Class
Abnormality of head or neck; Abnormality of the skeletal system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Acrodysostosis
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases
Disease Name
Acrodysostosis 1 with or Without Hormone Resistance
Global Category
Genetic diseases;Metabolic diseases
Anatomical Category
Bone diseases;Endocrine diseases
Disease Name
Acrodysostosis 2 with or Without Hormone Resistance
Global Category
Genetic diseases;Metabolic diseases
Anatomical Category
Bone diseases;Endocrine diseases
Disease Definition
Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; postNager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformatioPostaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrTreacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMusculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome