DiseaseID 15928
成骨不全症
disease
Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities
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Disease: 1Formula: 12Herb: 12Symptom: 10Target: 24Links: 58
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15928
- Core Entity Id
- 73929
- Source Entity Count
- 1
- Preferred Name
- Lobstein Disease
- Name Cn
- 成骨不全症
- Name Pinyin
- Cheng Gu Bu Quan Zheng
- Name En
- Lobstein Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesMusculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lobstein Disease
Role
preferred
Name
Brittle Bone Disorder
Role
preferred
Name
Cole-Carpenter Syndrome
Role
preferred
Name
Cole-Carpenter Syndrome 1
Role
preferred
Name
Cole-Carpenter Syndrome 2
Role
preferred
Name
Osteogenesis Imperfecta
Role
preferred
Name
Osteogenesis Imperfecta, Recessive Perinatal Lethal
Role
preferred
Name
Osteogenesis Imperfecta, Type Vi
Role
preferred
Name
Osteogenesis Imperfecta, Type Vii
Role
preferred
Name
Osteogenesis Imperfecta, Type Viii
Role
preferred
Name
Osteogenesis Imperfecta, Type X
Role
preferred
Name
Osteogenesis Imperfecta, Type Xi
Role
preferred
Name
Osteogenesis Imperfecta, Type Xii
Role
preferred
Name
Osteogenesis Imperfecta, Type Xiii
Role
preferred
Name
Osteogenesis Imperfecta, Type Xiv
Role
preferred
Name
Osteogenesis Imperfecta, Type Xv
Role
preferred
Name
Osteogenesis Imperfecta, Type Xvii
Role
preferred
Name
Cole Carpenter Syndrome
Role
preferred
Name
OI-EDS Combined Syndrome
Role
preferred
Name
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
Role
preferred
Name
Osteogenesis Imperfecta Type Iii (Disorder)
Role
preferred
Name
Osteogenesis Imperfecta Type Iv (Disorder)
Role
preferred
Name
Osteogenesis Imperfecta Type VII
Role
preferred
Name
Osteogenesis Imperfecta, Dominant Perinatal Lethal
Role
preferred
Name
Osteogenesis Imperfecta, Type 5
Role
preferred
Name
Osteogenesis Imperfecta, Type Xvi
Role
preferred
Name
BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES
Role
alias
Name
Bone Fragility-craniosynostosis-proptosis-hydrocephalus Syndrome
Role
alias
Name
CLCRP1
Role
alias
Name
CLCRP2
Role
alias
Name
OI, TYPE VII
Role
alias
Name
OI, TYPE VIII
Role
alias
Name
OI, TYPE X
Role
alias
Name
OI, TYPE XI
Role
alias
Name
OI, TYPE XII
Role
alias
Name
OI, TYPE XIII
Role
alias
Name
OI, TYPE XIV
Role
alias
Name
OI, TYPE XV
Role
alias
Name
OI10
Role
alias
Name
OI11
Role
alias
Name
OI12
Role
alias
Name
OI13
Role
alias
Name
OI14
Role
alias
Name
OI15
Role
alias
Name
OI17
Role
alias
Name
OI2B, FORMERLY
Role
alias
Name
OI6
Role
alias
Name
OI7
Role
alias
Name
OI8
Role
alias
Name
OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY
Role
alias
Name
Osteogenesis Imperfecta Tarda
Role
alias
Name
Osteogenesis Imperfecta Type 1
Role
alias
Name
Osteogenesis Imperfecta Type 10
Role
alias
Name
Osteogenesis Imperfecta Type 11
Role
alias
Name
Osteogenesis Imperfecta Type 12
Role
alias
Name
Osteogenesis Imperfecta Type 13
Role
alias
Name
Osteogenesis Imperfecta Type 14
Role
alias
Name
Osteogenesis Imperfecta Type 15
Role
alias
Name
Osteogenesis Imperfecta Type 16
Role
alias
Name
Osteogenesis Imperfecta Type 17
Role
alias
Name
Osteogenesis Imperfecta Type 2
Role
alias
Name
Osteogenesis Imperfecta Type 3
Role
alias
Name
Osteogenesis Imperfecta Type 4
Role
alias
Name
Osteogenesis Imperfecta Type 5
Role
alias
Name
Osteogenesis Imperfecta Type 6
Role
alias
Name
Osteogenesis Imperfecta Type 7
Role
alias
Name
Osteogenesis Imperfecta Type 8
Role
alias
Name
Osteogenesis Imperfecta Type 9
Role
alias
Name
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones But Without Fractures
Role
alias
Name
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae
Role
alias
Name
Osteogenesis Imperfecta, Sillence Type Ii-Iii, Without Abnormality of Type I Collagen
Role
alias
Name
Osteogenesis Imperfecta, Type 2A
Role
alias
Name
Osteogenesis Imperfecta, Type I
Role
alias
Name
Osteogenesis Imperfecta, Type Ii
Role
alias
Name
Osteogenesis Imperfecta, Type Iii
Role
alias
Name
Osteogenesis Imperfecta, Type Iv
Role
alias
Name
Osteogenesis Imperfecta, Type Ix
Role
alias
Name
Osteogenesis Imperfecta, Type V
Role
alias
Name
Vrolik Disease
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001774HBDIS002216HBDIS006275HBDIS006276HBDIS006277HBDIS006278HBDIS016687HBDIS016896HBDIS016916HBDIS017608HBDIS017943HBDIS018843HBDIS020220HBDIS020788HBDIS020789HBDIS020817HBDIS021204HBDIS021799HBDIS021855HBDIS022290HBDIS025711HBDIS025781HBDIS026443HBDIS029600
Me Sh
D010013
Omim
112240166200166210166220259420259440603828610682610915610967610968613848613849613982614856615066615220616229616294616507
Umls
C0029434C0268360C1853162C1859069C1862178C1970458C3151211C3151218C3151433C3279564C3553887C3554428C3808844C4225301C4225382
Icd10
Q78.0
Sym Map
SMDE00504SMDE00594SMDE00749SMDE00981SMDE01274SMDE02131SMDE02395SMDE02681SMDE03674SMDE03725SMDE04281SMDE04648SMDE04955SMDE06625SMDE11688SMDE11689
Do Class
DOID:630DOID:7
Dis Ge Net
C0023931C0029434C0268358C0268360C0268362C0268363C1850169C1852924C1853162C1859069C1862178C1970458C2931093C3151211C3151218C3151433C3279564C3553887C3554428C3808844C4015610C4225301C4225382C4317154
Orphanet
2050
Umls Sty
T019T047
Me Sh Class
C05C10C11C14C15C16C17
Etcm Disease
Brittle Bone DisorderCole-Carpenter SyndromeCole-Carpenter Syndrome 1Cole-Carpenter Syndrome 2
Tcmbank Disease
1298213212137191566116213167871707618217213372300123305242924622271432865928705306383084542524526580166758507
Itcmdb Generated
ITX-DISEASE-0A9F6FD7F543ITX-DISEASE-0C4A87E3CECBITX-DISEASE-316D41BD2F80ITX-DISEASE-3F540E1F42EEITX-DISEASE-9FE1B3ED2258ITX-DISEASE-A54500EA50F7ITX-DISEASE-EFB5E4C29830
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Brittle Bone Disorder Details pageDisease Cole-Carpenter Syndrome 1 Details pageDisease Cole-Carpenter Syndrome 2 Details pageDisease Cole-Carpenter Syndrome Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Link Disease Id
2395.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Umls Disease Type
Disease or SyndromeDisease or Syndrome; Congenital Abnormality
Basic Information
Disease Name
Brittle Bone Disorder
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Oral diseases;Respiratory diseases
Disease Name
Cole-Carpenter Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Cole-Carpenter Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Name
Cole-Carpenter Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Definition
Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformitiesNCI2016_02D:A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.|MSH2017_2016_08_12:COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.|MEDLINEPLUS_20151021:<p>Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong. </p> <p>OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.</p> <p>No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. </p> <p >NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases</p>|CSP2006:autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation.
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesMusculoskeletal DiseasesSkin and Connective Tissue Diseases; 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; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesMusculoskeletal Diseases
Umls Semantic Type Name
Disease or SyndromeDisease or Syndrome; Congenital Abnormality