DiseaseID 11216
迈赫综合征
disease
NCI2016_02D:A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness,
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Disease: 1Symptom: 9Target: 17Links: 33
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11216
- Core Entity Id
- 68578
- Source Entity Count
- 1
- Preferred Name
- Myhre Syndrome
- Name Cn
- 迈赫综合征
- Name Pinyin
- Mai He Zong He Zheng
- Name En
- Myhre Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Endocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness, skeletal abnormalities, and typical facial features (short palpebral fissures, shortened distance between the nose and upper lip, midface hypoplasia, prognathism, cleft palate, and/or cleft lip).|JABL99:Mental retardation, growth deficiency, midfacial hypoplasia, hearing loss, generalized muscular hypertrophy, joint limitation, and skeletal abnormalities are the cardinal features of this syndrome. See also Myhre-GOMBO syndrome.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Myhre Syndrome
Role
preferred
Name
GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE
Role
alias
Name
Growth Mental Deficiency Syndrome of Myhre
Role
alias
Name
LAPS SYNDROME
Role
alias
Name
LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE
Role
alias
Name
MYHRS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011687
Omim
139210
Umls
C0796081
Sym Map
SMDE01404
Dis Ge Net
C0796081
Umls Sty
T047
Me Sh Class
C05C10C12C16C19C23F01F03
Etcm Disease
Myhre Syndrome
Tcmbank Disease
1163
Itcmdb Generated
ITX-DISEASE-9C8EB731FCB8
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Myhre Syndrome Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Myhre Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness, skeletal abnormalities, and typical facial features (short palpebral fissures, shortened distance between the nose and upper lip, midface hypoplasia, prognathism, cleft palate, and/or cleft lip).|JABL99:Mental retardation, growth deficiency, midfacial hypoplasia, hearing loss, generalized muscular hypertrophy, joint limitation, and skeletal abnormalities are the cardinal features of this syndrome. See also Myhre-GOMBO syndrome.
Me Sh Disease Class
Endocrine System Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome