DiseaseID 3379

关节挛缩症

disease

Relationship Network

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Disease: 1Symptom: 2Target: 12Links: 14

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Record Fields

Scalar fields from the final disease record.

Disease Id: 3379
Core Entity Id: 59578
Source Entity Count: 1
Preferred Name: Arthrogryposis
Name Cn: 关节挛缩症
Name Pinyin: Guan Jie Luan Suo Zheng
Name En: Arthrogryposis
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; Musculoskeletal Diseases
Do Class
Hpo Class: Abnormality of connective tissue; Abnormality of the skeletal system; Abnormality of the musculature
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Hpo Class Name: Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature
Do Class Name
Disease Definition: NCI2016_02D:A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.|MSH2017_2016_08_12:Persistent flexure or contracture of a joint.|JABL99:Arthrogryposis marked by congenital contractures involving two or more different joints with ankylosis, hypoplasia of the attached musculature, and multiple pterygia. Several types are recognized: Myopathic type is relatively rare and is characterized by muscle changes with fixed flexion deformities of the limbs and gross deformities of the chest and spine. Nuropathic type presents fixed extension or flexion deformities of the limbs. Distal type affects the distal portions of the extremities. Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1. Lethal form with severe contractures, scoliosis, chest deformities, micrognathia, and death by age of 3 months. Psychomotor retardation may occur. 2. A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence. Type I involves primarily the distal parts of the hands and feet and is characterized by overlapping fingers, clenched fists, ulnar deviation of the fingers, camptodactyly, positional foot anomalies, and generally normal intelligence. Type II is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect.|HPO2016_07_04:A non-progressive finding characterized by multiple joint contractures found throughout the body at birth. [HPO:probinson]
Version: v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Arthrogryposis

Role

preferred

Name

Arthrogryposis Multiplex

Role

alias

Name

Arthrogryposis Multiplex Congenita

Role

alias

Name

Arthrogryposis, Congenital

Role

alias

Name

Multiple Congenital Contractures

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0002804

Herb

HBDIS000250

Me Sh

D001176

Umls

C0003886

Icd10

Q74.3

Sym Map

SMDE06053

Dis Ge Net

C0003886

Umls Sty

T047

Hpo Class

HP:0000924HP:0003011HP:0003549

Me Sh Class

C05C16

Tcmbank Disease

27721

Attributes

Merged source attributes and domain-specific metadata.

Version

Suppress

Disease Type

disease

Hpo Class Name

Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature

Hpo Disease Class

Abnormality of connective tissue; Abnormality of the skeletal system; Abnormality of the musculature

Umls Disease Type

Disease or Syndrome

Disease Definition

NCI2016_02D:A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.|MSH2017_2016_08_12:Persistent flexure or contracture of a joint.|JABL99:Arthrogryposis marked by congenital contractures involving two or more different joints with ankylosis, hypoplasia of the attached musculature, and multiple pterygia. Several types are recognized: Myopathic type is relatively rare and is characterized by muscle changes with fixed flexion deformities of the limbs and gross deformities of the chest and spine. Nuropathic type presents fixed extension or flexion deformities of the limbs. Distal type affects the distal portions of the extremities. Distal arthrogryposis is further divided into two types: At least 3 varies of X-linked distal arthrogryposis are recognized: 1. Lethal form with severe contractures, scoliosis, chest deformities, micrognathia, and death by age of 3 months. Psychomotor retardation may occur. 2. A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence. 3. A sporadic form with mild symptoms which gradually improve, which is manifested main by moderate contractures and normal intelligence. Type I involves primarily the distal parts of the hands and feet and is characterized by overlapping fingers, clenched fists, ulnar deviation of the fingers, camptodactyly, positional foot anomalies, and generally normal intelligence. Type II is divided into several subtypes and, in addition to arthrogryposis, has a variety of associated findings, including short stature, cleft lip and/or palate, scoliosis, trismus, and dull intellect.|HPO2016_07_04:A non-progressive finding characterized by multiple joint contractures found throughout the body at birth. [HPO:probinson]

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases

Dis Ge Net Disease Type

disease

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases

Umls Semantic Type Name

Disease or Syndrome