DiseaseID 26277

Koolen-De Vries综合征

Koolen-De Vries Syndrome

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Disease: 1Symptom: 9Target: 20Links: 33

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Record Fields

Scalar fields from the final disease record.

Disease Id: 26277
Core Entity Id: 118845
Source Entity Count: 1
Preferred Name: Koolen-De Vries Syndrome
Name Cn: Koolen-De Vries综合征
Name Pinyin: Koolen-de vries Zong He Zheng
Name En: Koolen-De Vries Syndrome
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: SNOMEDCT_US_2016_09_01:A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.|SNOMEDCT_US_2016_09_01:A chromosomal anomaly characterised by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behaviour. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.
Version: v1,v2
Suppressed: No

Names

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

Name

Koolen-De Vries Syndrome

Role

preferred

Cross References

Trusted external identifiers retained for this final record.

Umls

C1864871

Sym Map

SMDE02779

Etcm Disease

Koolen-De Vries Syndrome

Itcmdb Generated

ITX-DISEASE-1F188A2985E8

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2

Suppress

Page Title

Disease Koolen-De Vries Syndrome Details page

Basic Information

Disease Name

Koolen-De Vries Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Bone diseases;Ear diseases;Smell/Taste diseases

Disease Definition

SNOMEDCT_US_2016_09_01:A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.|SNOMEDCT_US_2016_09_01:A chromosomal anomaly characterised by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behaviour. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.