DiseaseID 4041

弗勒利希综合征

disease

MSH2017_2016_08_12:Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms

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Disease: 1Formula: 12Symptom: 9Target: 18Links: 45
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Record Fields

Scalar fields from the final disease record.

Disease Id
4041
Core Entity Id
60328
Source Entity Count
1
Preferred Name
Froehlich'S Syndrome
Name Cn
弗勒利希综合征
Name Pinyin
Fu Lei Li Xi Zong He Zheng
Name En
Froehlich'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; Nutritional and Metabolic Diseases; Endocrine System DiseasesEndocrine System DiseasesMale Urogenital DiseasesNervous System DiseasesNervous System Diseases; Endocrine System Diseases
Do Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Class
Abnormality of the nervous system; Abnormality of the endocrine system
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System DiseasesEndocrine System DiseasesMale Urogenital DiseasesNervous System DiseasesNervous System Diseases; Endocrine System Diseases
Hpo Class Name
Abnormality of the endocrine system; Abnormality of the nervous system
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Definition
MSH2017_2016_08_12:Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders.
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Froehlich'S Syndrome
Role
preferred
Name
Acth Deficiency, Isolated
Role
preferred
Name
Hypothalamic Diseases
Role
preferred
Name
Adrenocorticotropic Hormone (Acth) Deficiency (Disorder)
Role
preferred
Name
Congenital Isolated Acth Deficiency
Role
preferred
Name
Follicle Stimulating Hormone Deficiency
Role
preferred
Name
Follicle-Stimulating Hormone Deficiency, Isolated
Role
preferred
Name
Hypothalamic Dysfunction Syndromes
Role
preferred
Name
Isolated Follicle Stimulating Hormone Deficiency
Role
preferred
Name
ADRENOCORTICOTROPIC HORMONE DEFICIENCY
Role
alias
Name
Acth Deficiency
Role
alias
Name
Corticotropin Deficiency
Role
alias
Name
Froelich Syndrome
Role
alias
Name
Hypogonadotropic Hypogonadism 24 Without Anosmia
Role
alias
Name
IAD
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0011748
Herb
HBDIS001111HBDIS006621HBDIS007989HBDIS007991HBDIS011206HBDIS017328
Me Sh
D007027
Omim
201400229070
Umls
C0016724C0020655C0271583C0342386C0342388
Icd10
E23.6
Sym Map
SMDE01052SMDE02192SMDE04568SMDE08797SMDE08850SMDE09726
Do Class
DOID:630DOID:7
Dis Ge Net
C0016724C0271583C0342386C0342388C0751230C1856716
Orphanet
19929652901
Umls Sty
T047
Hpo Class
HP:0000707HP:0000818
Me Sh Class
C10C12C16C18C19
Etcm Disease
Acth Deficiency, Isolated
Tcmbank Disease
103412507729833365047766359
Itcmdb Generated
ITX-DISEASE-2F69DE8622F4ITX-DISEASE-A63CD6B7BF80ITX-DISEASE-CCDE781EBB8DITX-DISEASE-DAC0F81C87F8ITX-DISEASE-E4565D782C6E

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v2
Suppress
0
Page Title
Disease Acth Deficiency, Isolated Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the endocrine system; Abnormality of the nervous system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the nervous system; Abnormality of the endocrine system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Acth Deficiency, Isolated
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Endocrine diseases
Disease Definition
MSH2017_2016_08_12:Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders.NCI2016_02D:A rare acquired endocrine disorder more commonly affecting males. It is caused by lesions in the hypothalamus. Clinical signs include obesity, short stature, pubertal delay, hypogonadism, visual impairment, polydipsia and polyuria.NCI2016_02D:Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland.|HPO2016_07_04:A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. [DDD:spark]NCI2016_02D:Subnormal concentration of follicle stimulating hormone.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System DiseasesEndocrine System DiseasesMale Urogenital DiseasesNervous System DiseasesNervous System Diseases; Endocrine System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System DiseasesEndocrine System DiseasesMale Urogenital DiseasesNervous System DiseasesNervous System Diseases; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome