DiseaseID 4128
哈勒曼综合征
disease
NCI2016_02D:A very rare syndrome characterized by multiple congenital abnormalities including abnormally shaped head, mandibular hypoplasia, parrot nose, bilateral congenital cataracts, microphthalmia, dwarfism and hypot
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Disease: 1Symptom: 4Target: 12Links: 16
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4128
- Core Entity Id
- 60427
- Source Entity Count
- 1
- Preferred Name
- Hallermann'S Syndrome
- Name Cn
- 哈勒曼综合征
- Name Pinyin
- Ha Lei Man Zong He Zheng
- Name En
- Hallermann'S Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- syndrome
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- syndrome
- Disease Definition
- NCI2016_02D:A very rare syndrome characterized by multiple congenital abnormalities including abnormally shaped head, mandibular hypoplasia, parrot nose, bilateral congenital cataracts, microphthalmia, dwarfism and hypotrichosis.|MSH2017_2016_08_12:An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed)|JABL99:A bulging skull with brachycephaly, beaked nose, cataracts, microphthalmia and receding chin giving the face its peculiar bird-like appearance. Associated defects include hypotrichosis, short stature, occasional mental deficiency and skeletal, hepatic, muscular, and renal anomalies.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hallermann'S Syndrome
Role
preferred
Name
Hallermann-Streiff Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001236
Me Sh
D006210
Omim
234100
Umls
C0018522
Sym Map
SMDE09199
Do Class
DOID:225
Dis Ge Net
C0018522
Umls Sty
T047
Me Sh Class
C05C16
Tcmbank Disease
12101
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
syndrome
Disease Type
disease
Do Disease Class
syndrome
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A very rare syndrome characterized by multiple congenital abnormalities including abnormally shaped head, mandibular hypoplasia, parrot nose, bilateral congenital cataracts, microphthalmia, dwarfism and hypotrichosis.|MSH2017_2016_08_12:An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed)|JABL99:A bulging skull with brachycephaly, beaked nose, cataracts, microphthalmia and receding chin giving the face its peculiar bird-like appearance. Associated defects include hypotrichosis, short stature, occasional mental deficiency and skeletal, hepatic, muscular, and renal anomalies.
Me Sh Disease Class
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; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome