DiseaseID 5423
麻痹性肠梗阻
disease
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal
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Disease: 1Formula: 9Herb: 12Symptom: 12Target: 24Links: 57
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5423
- Core Entity Id
- 61919
- Source Entity Count
- 1
- Preferred Name
- Paralytic Ileus
- Name Cn
- 麻痹性肠梗阻
- Name Pinyin
- Ma Bi Xing Chang Geng Zu
- Name En
- Paralytic Ileus
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesDigestive System DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasedisease of anatomical entity; physical disordersyndrome
- Hpo Class
- Abnormality of the digestive system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesDigestive System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
- Hpo Class Name
- Abnormality of the digestive system
- Do Class Name
- disease of anatomical entitydisease of anatomical entity; physical disordergenetic disease; disease of anatomical entitysyndrome
- Disease Definition
- Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Paralytic Ileus
Role
preferred
Name
Brittle Cornea Syndrome 2
Role
preferred
Name
Congenital Short Bowel Syndrome
Role
preferred
Name
Ehlers-Danlos Syndrome
Role
preferred
Name
Ehlers-Danlos Syndrome Type 1
Role
preferred
Name
Ehlers-Danlos Syndrome Type 2
Role
preferred
Name
Ehlers-Danlos Syndrome Type 7A
Role
preferred
Name
Ehlers-Danlos Syndrome With Periventricular Heterotopia
Role
preferred
Name
Ehlers-Danlos Syndrome, Kyphoscoliotic Type
Role
preferred
Name
Ehlers-Danlos Syndrome, Type Vi
Role
preferred
Name
Enteric Neuropathy, Familial
Role
preferred
Name
Familial Visceral Myopathy
Role
preferred
Name
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Role
preferred
Name
Megaduodenum And-Or Megacystis
Role
preferred
Name
Periventricular Nodular Heterotopia 6
Role
preferred
Name
Visceral Myopathy
Role
preferred
Name
Visceral Myopathy, Familial
Role
preferred
Name
Bilateral Periventricular Nodular Heterotopia
Role
preferred
Name
Brittle Cornea Syndrome 1
Role
preferred
Name
Congenital Idiopathic Intestinal Pseudoobstruction
Role
preferred
Name
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
Role
preferred
Name
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
Role
preferred
Name
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
Role
preferred
Name
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
Role
preferred
Name
EHLERS-DANLOS SYNDROME, PROGEROID FORM
Role
preferred
Name
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
Role
preferred
Name
Ehlers-Danlos Syndrome 6B
Role
preferred
Name
Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency
Role
preferred
Name
Ehlers-Danlos Syndrome Kyphoscoliotic Type
Role
preferred
Name
Ehlers-Danlos Syndrome Type 6
Role
preferred
Name
Ehlers-Danlos Syndrome Type 7B
Role
preferred
Name
Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
Role
preferred
Name
Ehlers-Danlos Syndrome, Hypermobility Type
Role
preferred
Name
Ehlers-Danlos Syndrome, Kyphoscoliotic And Deafness Type
Role
preferred
Name
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type
Role
preferred
Name
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Role
preferred
Name
Ehlers-Danlos Syndrome, Type IV
Role
preferred
Name
Ehlers-Danlos Syndrome, Type VIII
Role
preferred
Name
Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant
Role
preferred
Name
Ehlers-Danlos Syndrome, Vascular Type
Role
preferred
Name
Heterotopia, Periventricular, Autosomal Recessive
Role
preferred
Name
Heterotopia, Periventricular, Ehlers-Danlos Variant
Role
preferred
Name
Intestinal Pseudo-Obstruction
Role
preferred
Name
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Role
preferred
Name
Multiple Intestinal Atresia
Role
preferred
Name
Nevo Syndrome (Disorder)
Role
preferred
Name
Periventricular Heterotopia, X-Linked
Role
preferred
Name
Periventricular Nodular Heterotopia
Role
preferred
Name
Periventricular Nodular Heterotopia 1
Role
preferred
Name
Visceral Neuropathy, Familial, Autosomal Dominant
Role
preferred
Name
Arthrochalasis Multiplex Congenita
Role
alias
Name
Autosomal Dominant Type Iv Ehlers-Danlos Syndrome
Role
alias
Name
BCS2
Role
alias
Name
Berdon Syndrome
Role
alias
Name
Brittle Cornea Syndrome
Role
alias
Name
CSBS
Role
alias
Name
Congenital Short Bowel Syndrome, X-Linked
Role
alias
Name
EDS I
Role
alias
Name
EDS II
Role
alias
Name
EDS VI
Role
alias
Name
EDS VIA
Role
alias
Name
EDS VIIA
Role
alias
Name
EDS With Periventricular Heterotopia
Role
alias
Name
EDS, Kyphoscoliotic Type
Role
alias
Name
EDS, Oculoscoliotic Type
Role
alias
Name
EDS6
Role
alias
Name
EDS6A, FORMERLY
Role
alias
Name
EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE
Role
alias
Name
EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY
Role
alias
Name
Ehlers-Danlos Syndrome Progeroid Type
Role
alias
Name
Ehlers-Danlos Syndrome Type 6A
Role
alias
Name
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Role
alias
Name
Ehlers-Danlos Syndrome, Oculoscoliotic Type
Role
alias
Name
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant
Role
alias
Name
Familial Hollow Visceral Myopathy
Role
alias
Name
Fragilitas Oculi With Joint Hyperextensibility
Role
alias
Name
Hereditary Hollow Visceral Myopathy
Role
alias
Name
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Role
alias
Name
MMIHS
Role
alias
Name
Megacystis-microcolon-intestinal Hypoperistalsis-hydronephrosis Syndrome
Role
alias
Name
Megaduodenum And/or Megacystis
Role
alias
Name
NEVO SYNDROME
Role
alias
Name
Nodular Heterotopia, Bilateral Periventricular
Role
alias
Name
PVNH6
Role
alias
Name
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Role
alias
Name
Periventricular Nodular Heterotopia 4, Formerly
Role
alias
Name
Type I Ehlers-Danlos Syndrome
Role
alias
Name
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002590HP:0004389
Herb
HBDIS000890HBDIS001568HBDIS002297HBDIS003112HBDIS006057HBDIS006259HBDIS006260HBDIS006262HBDIS006264HBDIS006265HBDIS006267HBDIS014623HBDIS015288HBDIS015947HBDIS016199HBDIS016448HBDIS018164HBDIS018479HBDIS018502HBDIS019740HBDIS020431HBDIS021252HBDIS026259HBDIS027202HBDIS027203HBDIS027260HBDIS027359HBDIS027385HBDIS027402HBDIS029474HBDIS029501
Me Sh
D004535D007418D054091
Omim
130000130050130060130070155310225400229200249210300049300537608097609629614170615237615349615544617174
Umls
C0013720C0021847C0030446C0042781C0220744C0266833C0268335C0268336C0268337C0268338C0268342C0268344C0268345C0268347C1608393C1835084C1845235C1848029C1848213C1848214C1851801C1864996C1869122C2676510C2936777C3280011C3809872
Icd10
K56.0Q43.8Q79.6
Med Dra
10028210
Sym Map
SMDE00036SMDE00553SMDE00649SMDE00986SMDE01088SMDE01121SMDE01515SMDE01525SMDE01981SMDE02110SMDE02450SMDE02787SMDE02870SMDE02972SMDE03358SMDE03397SMDE03493SMDE03603SMDE04137SMDE04780SMDE04823SMDE05033SMDE05073SMDE07464SMDE08174SMDE08307SMDE10811SMDE11908SMDE12096SMDE14297SMDE14298
Do Class
DOID:0080015DOID:225DOID:630DOID:7
Dis Ge Net
C0013720C0021847C0030446C0042781C0266833C0268335C0268336C0268338C0268342C0268344C0268347C1608393C1835084C1842563C1845235C1848213C1864996C1868720C1869122C2746068C2936777C3280011C3809210C3809872C4310681C4551497C4551499C4551623C4551969C4552003C4552122
Orphanet
157965190022412300230123083926042852863001797539275496820049030990318903549987599876
Umls Sty
T019T047
Hpo Class
HP:0025031
Me Sh Class
C05C06C10C11C14C15C16C17C23
Etcm Disease
Brittle Cornea Syndrome 1Brittle Cornea Syndrome 2Congenital Short Bowel SyndromeEhlers-Danlos Syndrome, Arthrochalasia Type, 1Ehlers-Danlos Syndrome, Classic Type, 1Ehlers-Danlos Syndrome, Hypermobility TypeEhlers-Danlos Syndrome, Periodontal Type, 1Ehlers-Danlos Syndrome, Periodontal Type, 2Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2Ehlers-Danlos Syndrome, Vascular TypeIntestinal Pseudo-Obstruction
Tcmbank Disease
1090911443115391192120713802169831725717550177661778185591897723175232082345424024749255902612626523265842817528202932730692322774323512567937976
Itcmdb Generated
ITX-DISEASE-07888BBE5B5BITX-DISEASE-0B41DC9DCE4AITX-DISEASE-1D1443FA3B70ITX-DISEASE-3D5AF3251035ITX-DISEASE-3F66C2FC361EITX-DISEASE-403432EE295BITX-DISEASE-4A6131A4E76EITX-DISEASE-4ADF95C9FAF6ITX-DISEASE-5177235E271DITX-DISEASE-5746B68BD73CITX-DISEASE-65F1EB24AA01ITX-DISEASE-68CC4A50EBC8ITX-DISEASE-78698B06327CITX-DISEASE-8531537643CFITX-DISEASE-96193F8E5FB1ITX-DISEASE-9B79EBEFB5ABITX-DISEASE-AB757C17BBE5ITX-DISEASE-FB8F46CBD6A4ITX-DISEASE-FFAA6A31F3F1
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Brittle Cornea Syndrome 1 Details pageDisease Brittle Cornea Syndrome 2 Details pageDisease Congenital Short Bowel Syndrome Details pageDisease Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Details pageDisease Ehlers-Danlos Syndrome, Classic Type, 1 Details pageDisease Ehlers-Danlos Syndrome, Hypermobility Type Details pageDisease Ehlers-Danlos Syndrome, Periodontal Type, 1 Details pageDisease Ehlers-Danlos Syndrome, Periodontal Type, 2 Details pageDisease Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 Details pageDisease Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 Details pageDisease Ehlers-Danlos Syndrome, Vascular Type Details pageDisease Intestinal Pseudo-Obstruction Details page
Do Class Name
disease of anatomical entitydisease of anatomical entity; physical disordergenetic disease; disease of anatomical entitysyndrome
Disease Type
disease
Hpo Class Name
Abnormality of the digestive system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasedisease of anatomical entity; physical disordersyndrome
Hpo Disease Class
Abnormality of the digestive system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Brittle Cornea Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Skin diseases
Disease Name
Brittle Cornea Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Skin diseases
Disease Name
Congenital Short Bowel Syndrome
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Liver diseases
Disease Name
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Skin diseases
Disease Name
Ehlers-Danlos Syndrome, Classic Type, 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Oral diseases;Skin diseases
Disease Name
Ehlers-Danlos Syndrome, Hypermobility Type
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Skin diseases
Disease Name
Ehlers-Danlos Syndrome, Periodontal Type, 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Oral diseases;Skin diseases
Disease Name
Ehlers-Danlos Syndrome, Periodontal Type, 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Oral diseases;Skin diseases
Disease Name
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Name
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Name
Ehlers-Danlos Syndrome, Vascular Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Skin diseases
Disease Name
Intestinal Pseudo-Obstruction
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Nephrological diseases;Neuronal diseases
Disease Definition
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinalEhlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS.Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in mosEhlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joEhlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular glFamilial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the firsMegacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of inteNCI2016_02D:An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.|MSH2017_2016_08_12:A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.|MEDLINEPLUS_20151021:<p>Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken <a href='https://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html'>connective tissues</a>. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. </p> <p>EDS usually affects your skin, joints and blood vessel walls. Symptoms include</p> <ul> <li> Loose joints </li> <li> Fragile, small blood vessels </li> <li> Abnormal scar formation and wound healing </li> <li> Soft, velvety, stretchy skin that bruises easily </li> </ul> <p>There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.</p>|CSP2006:group of inherited disorders of the connective tissue; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors.NCI2016_02D:Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.NCI2016_02D:Ehlers-Danlos syndrome, type II belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.NCI2016_02D:Ehlers-Danlos syndrome, type VII includes the arthrochalasia type (types VIIA and VIIB) Ehlers-Danlos syndrome, and the dermatosparaxis type (type VIIC) Ehlers-Danlos syndrome. The arthrochalasia type Ehlers-Danlos syndrome is caused by mutations in the COL1A1 gene or the COL1A2 gene. The dermatosparaxis type Ehlers-Danlos syndrome is caused by mutations in the ADAMTS2 gene.NCI2016_NCI-GLOSS_1602D:A condition in which the muscles of the intestines do not allow food to pass through, resulting in a blocked intestine. Paralytic ileus may be caused by surgery, inflammation, and certain drugs.|NCI2016_02D:An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.SNOMEDCT_US_2016_09_01:A form of Ehlers-Danlos syndrome with characteristics of hypotonia, kyphoscoliosis at birth and joint hyperextensibility.|NCI2016_02D:Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene.
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic DiseasesCardiovascular Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesDigestive System DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Skin 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 AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesDigestive System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome