DiseaseID 15335
Ter Haar综合征
disease
JABL99:A syndrome of bone dysplasia, craniofacial abnormalities, congenital glaucoma, hypertelorism, congenital heart defect, kyphoscoliosis, skeletal dysplasia, and developmental delay. Originally considered a form of t
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Disease: 1Symptom: 2Target: 16Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15335
- Core Entity Id
- 73256
- Source Entity Count
- 1
- Preferred Name
- Ter Haar Syndrome
- Name Cn
- Ter Haar综合征
- Name Pinyin
- Ter haar Zong He Zheng
- Name En
- Ter Haar Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular DiseasesSkin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:A syndrome of bone dysplasia, craniofacial abnormalities, congenital glaucoma, hypertelorism, congenital heart defect, kyphoscoliosis, skeletal dysplasia, and developmental delay. Originally considered a form of the Melnick-Needles syndrome, ter Haar syndrome is now recognized a separate entity which, in addition to the Melnick-Needles phenotype, includes congenital heart defect and glaucoma.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ter Haar Syndrome
Role
preferred
Name
Borrone Di Rocco Crovato Syndrome
Role
preferred
Name
Frank-Ter Haar Syndrome
Role
preferred
Name
BORRONE DERMATOCARDIOSKELETAL SYNDROME
Role
alias
Name
FTHS
Role
alias
Name
MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017137HBDIS017660
Omim
249420
Umls
C1855305C1859406
Sym Map
SMDE01777SMDE06541SMDE13830
Dis Ge Net
C1855305C1859406
Umls Sty
T047
Me Sh Class
C05C14C16C17F03
Etcm Disease
Frank-Ter Haar Syndrome
Tcmbank Disease
152764295
Itcmdb Generated
ITX-DISEASE-64D030A1FA4BITX-DISEASE-CD9DF1D6ABC5
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Frank-Ter Haar Syndrome Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Frank-Ter Haar Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Skin diseases
Disease Definition
JABL99:A syndrome of bone dysplasia, craniofacial abnormalities, congenital glaucoma, hypertelorism, congenital heart defect, kyphoscoliosis, skeletal dysplasia, and developmental delay. Originally considered a form of the Melnick-Needles syndrome, ter Haar syndrome is now recognized a separate entity which, in addition to the Melnick-Needles phenotype, includes congenital heart defect and glaucoma.
Me Sh Disease Class
Cardiovascular Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular DiseasesSkin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome