DiseaseID 4928
扁平颅底
disease
Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephal
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Disease: 1Symptom: 11Target: 19Links: 35
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4928
- Core Entity Id
- 61351
- Source Entity Count
- 1
- Preferred Name
- Platybasia
- Name Cn
- 扁平颅底
- Name Pinyin
- Bian Ping Lu Di
- Name En
- Platybasia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Nervous System Diseases; Musculoskeletal DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitygenetic disease
- Hpo Class
- Abnormality of head or neck; Abnormality of the skeletal system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
- Hpo Class Name
- Abnormality of head or neck; Abnormality of the skeletal system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephal
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Platybasia
Role
preferred
Name
Acromelic Frontonasal Dysostosis
Role
preferred
Name
Acromelic Frontonasal Dysplasia
Role
preferred
Name
Craniolenticulosutural Dysplasia
Role
preferred
Name
AFND
Role
alias
Name
Flattening of The Skull Base
Role
alias
Name
Increased Basal Angle of Skull Base
Role
alias
Name
Obtuse Basal Angle of Skull Base
Role
alias
Name
Toriello Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002691
Herb
HBDIS002413HBDIS011709HBDIS018041HBDIS028844
Me Sh
D010985
Omim
603671607812
Umls
C0032209C0796182C1843042C1863616
Icd10
Q75.8
Sym Map
SMDE00980SMDE03853SMDE05193SMDE12215
Do Class
DOID:630DOID:7
Dis Ge Net
C0032209C0796182C1843042C1863616
Orphanet
182750814
Umls Sty
T019T047
Hpo Class
HP:0000152HP:0000924
Me Sh Class
C05C10C11C16C19
Etcm Disease
Acromelic Frontonasal DysostosisCraniolenticulosutural Dysplasia
Tcmbank Disease
1565528718269
Itcmdb Generated
ITX-DISEASE-0E789DFEB326ITX-DISEASE-6575662A428E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Acromelic Frontonasal Dysostosis Details pageDisease Craniolenticulosutural Dysplasia Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of head or neck; Abnormality of the skeletal system
Do Disease Class
disease of anatomical entitygenetic disease
Hpo Disease Class
Abnormality of head or neck; Abnormality of the skeletal system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Acromelic Frontonasal Dysostosis
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases;Smell/Taste diseases
Disease Name
Craniolenticulosutural Dysplasia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases
Disease Definition
Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephalCraniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract anMSH2017_2016_08_12:A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)|HPO2016_07_04:Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. [HPO:probinson, pmid:10084535]|HPO2016_07_04:A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. [HPO:probinson]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesEndocrine System Diseases; Nervous System Diseases; Musculoskeletal DiseasesEye 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; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome