DiseaseID 11207
小眼球
disease
JABL99:Eye abnormalities, ranging from microphthalmia to anophthalmia with other defects, associated with skeletal (mainly involving the hands, feet, and clavicle), renal, dental, genital, and other multiple abnormalitie
Relationship Network
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Disease: 1Formula: 5Herb: 1Symptom: 12Target: 24Links: 42
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11207
- Core Entity Id
- 68568
- Source Entity Count
- 1
- Preferred Name
- Nanophthalmia
- Name Cn
- 小眼球
- Name Pinyin
- Xiao Yan Qiu
- Name En
- Nanophthalmia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesDigestive System Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Nervous System DiseasesEye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of head or neckAbnormality of the eye
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of head or neckAbnormality of the eye
- Do Class Name
- disease of anatomical entity
- Disease Definition
- JABL99:Eye abnormalities, ranging from microphthalmia to anophthalmia with other defects, associated with skeletal (mainly involving the hands, feet, and clavicle), renal, dental, genital, and other multiple abnormalities.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Nanophthalmia
Role
preferred
Name
Microphthalmia, Syndromic 5
Role
preferred
Name
Microphthalmos
Role
preferred
Name
Nanophthalmos 4
Role
preferred
Name
Cryptophthalmos
Role
preferred
Name
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
Role
preferred
Name
MICROPHTHALMIA, SYNDROMIC 7
Role
preferred
Name
Microphthalmia With Brain And Digit Anomalies
Role
preferred
Name
Microphthalmia, Syndromic 1
Role
preferred
Name
Microphthalmia, Syndromic 2
Role
preferred
Name
Microphthalmia, Syndromic 3
Role
preferred
Name
NANOPHTHALMOS 1
Role
preferred
Name
NANOPHTHALMOS 2 (disorder)
Role
preferred
Name
Optic Nerve Hypoplasia And Abnormalities of The Central Nervous System
Role
preferred
Name
Linear Skin Defects With Multiple Congenital Anomalies 1
Role
alias
Name
MCOPS5
Role
alias
Name
Microphthalmia
Role
alias
Name
Microphthalmia And Pituitary Anomalies
Role
alias
Name
Microphthalmia, Syndromic 6
Role
alias
Name
NANOPHTHALMIA 4
Role
alias
Name
NNO4
Role
alias
Name
Nanophthalmos
Role
alias
Name
Nanophthalmos 2
Role
alias
Name
RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION
Role
alias
Name
Syndromic Microphthalmia-7
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000568HP:0001126
Herb
HBDIS001946HBDIS007316HBDIS011671HBDIS011685HBDIS015376HBDIS015683HBDIS016291HBDIS017715HBDIS017716HBDIS018113HBDIS023067HBDIS025903HBDIS029020
Me Sh
D008850
Omim
206900300166309801607932609549610125615972
Umls
C0026010C0796016C1846265C1859774C1864689C1864690C4014848C4225436
Icd10
Q11.2
Sym Map
SMDE00034SMDE00114SMDE00229SMDE01105SMDE02256SMDE02828SMDE04888SMDE10984
Do Class
DOID:7
Dis Ge Net
C0026010C0311249C0796016C0796070C1836006C1838502C1846265C1859773C1859774C1864689C1864690C4014848C4274282
Orphanet
13947135612568
Umls Sty
T019T047
Hpo Class
HP:0000152HP:0000478
Me Sh Class
C05C06C10C11C12C13C14C16C17
Etcm Disease
Microphthalmia, Syndromic 1Microphthalmia, Syndromic 2Microphthalmia, Syndromic 3Microphthalmia, Syndromic 5
Tcmbank Disease
1107111260127721288313317133811531170341788121879260252715
Itcmdb Generated
ITX-DISEASE-0608C0FB8EB3ITX-DISEASE-165E4DF74FD2ITX-DISEASE-3A6CEF061AF5ITX-DISEASE-5ABE33535FFEITX-DISEASE-A053B59D8B0C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Microphthalmia, Syndromic 1 Details pageDisease Microphthalmia, Syndromic 2 Details pageDisease Microphthalmia, Syndromic 3 Details pageDisease Microphthalmia, Syndromic 5 Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of head or neckAbnormality of the eye
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of head or neckAbnormality of the eye
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital Abnormality
Basic Information
Disease Name
Microphthalmia, Syndromic 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases;Oral diseases;Reproductive diseases;Respiratory diseases
Disease Name
Microphthalmia, Syndromic 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases;Oral diseases;Reproductive diseases;Respiratory diseases
Disease Name
Microphthalmia, Syndromic 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases;Oral diseases;Reproductive diseases;Respiratory diseases
Disease Name
Microphthalmia, Syndromic 5
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases;Oral diseases;Reproductive diseases;Respiratory diseases
Disease Definition
JABL99:Eye abnormalities, ranging from microphthalmia to anophthalmia with other defects, associated with skeletal (mainly involving the hands, feet, and clavicle), renal, dental, genital, and other multiple abnormalities.Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been descriNCI2016_02D:A congenital abnormality characterized by the presence of an abnormally small eye globe.|MSH2017_2016_08_12:Congenital or developmental anomaly in which the eyeballs are abnormally small.|HPO2016_07_04:A developmental anomaly characterized by abnormal smallness of one or both eyes. [HPO:probinson]|CSP2006:congenital or developmental anomaly in which the eyeballs are abnormally small.Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
Me Sh Disease Class
Cardiovascular Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesDigestive System Diseases; Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases; Nervous System DiseasesEye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Male Urogenital Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System DiseasesEye Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital Abnormality