DiseaseID 16284
顶骨孔
disease
SNOMEDCT_US_2016_09_01:A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenit
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Disease: 1Symptom: 3Target: 4Links: 7
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16284
- Core Entity Id
- 74333
- Source Entity Count
- 1
- Preferred Name
- Parietal Foramina
- Name Cn
- 顶骨孔
- Name Pinyin
- Ding Gu Kong
- Name En
- Parietal Foramina
- 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; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- physical disorder
- Hpo Class
- Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of the nervous system
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
- Do Class Name
- physical disorder
- Disease Definition
- SNOMEDCT_US_2016_09_01:A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Parietal Foramina
Role
preferred
Name
Parietal Foramina 1
Role
preferred
Name
Parietal Foramina 2
Role
preferred
Name
CATLIN MARKS
Role
alias
Name
CRANIUM BIFIDUM OCCULTUM
Role
alias
Name
CRANIUM BIFIDUM, HEREDITARY
Role
alias
Name
FORAMINA PARIETALIA PERMAGNA
Role
alias
Name
FPP
Role
alias
Name
PARIETAL FORAMINA, SYMMETRIC
Role
alias
Name
PFM
Role
alias
Name
PFM1
Role
alias
Name
PFM2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004423
Herb
HBDIS018176HBDIS018459HBDIS018460
Omim
168500609597
Umls
C1865044C1868598C1868599
Sym Map
SMDE01571SMDE04783SMDE11955
Do Class
DOID:0080015
Dis Ge Net
C1865044C1868598C1868599
Umls Sty
T019T047
Hpo Class
HP:0000152HP:0000707HP:0000924
Me Sh Class
C10C16C23
Tcmbank Disease
2834046187165
Itcmdb Generated
ITX-DISEASE-FB7132F6AE1C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Do Class Name
physical disorder
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
Do Disease Class
physical disorder
Hpo Disease Class
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of the nervous system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome