DiseaseID 9967
胎儿水肿
disease
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hyp
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Disease: 1Formula: 3Herb: 3Symptom: 12Target: 24Links: 42
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9967
- Core Entity Id
- 67113
- Source Entity Count
- 1
- Preferred Name
- Hydrops Fetalis
- Name Cn
- 胎儿水肿
- Name Pinyin
- Tai Er Shui Zhong
- Name En
- Hydrops Fetalis
- 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; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
- Do Class
- genetic disease
- Hpo Class
- Abnormality of blood and blood-forming tissuesAbnormality of metabolism/homeostasis; Abnormality of prenatal development or birth
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
- Hpo Class Name
- Abnormality of blood and blood-forming tissuesAbnormality of metabolism/homeostasis; Abnormality of prenatal development or birth
- Do Class Name
- genetic disease
- Disease Definition
- Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hyp
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hydrops Fetalis
Role
preferred
Name
Alpha-Thalassemia
Role
preferred
Name
Hb Bart'S Hydrops Fetalis
Role
preferred
Name
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
Role
preferred
Name
Alpha Thalassemia Intermedia
Role
preferred
Name
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Role
preferred
Name
Alpha-Thalassemia Myelodysplasia Syndrome
Role
preferred
Name
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Role
preferred
Name
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Role
preferred
Name
Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder
Role
preferred
Name
HEMOGLOBIN H DISEASE, NONDELETIONAL
Role
preferred
Name
HEMOGLOBIN H HYDROPS FETALIS SYNDROME
Role
preferred
Name
Hemoglobin Bart'S Hydrops Syndrome
Role
preferred
Name
Hemoglobin H Constant Spring
Role
preferred
Name
Hemoglobin H Disease
Role
preferred
Name
Hydrops Fetalis Due To Alpha Thalassemia
Role
preferred
Name
Hydrops Fetalis, Non-Immune
Role
preferred
Name
Hydrops Fetalis, Nonimmune
Role
preferred
Name
Immune Hydrops Fetalis
Role
preferred
Name
Severe Alpha Thalassemia
Role
preferred
Name
Triple Gene Defect Alpha Thalassemia
Role
preferred
Name
alpha^+^ Thalassemia
Role
preferred
Name
Alpha Thalassaemia
Role
alias
Name
Alpha Thalassemia
Role
alias
Name
Alpha Thalassemia-Intellectual Disability Syndrome Type 1
Role
alias
Name
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome
Role
alias
Name
Alpha-Plus-Thalassemia
Role
alias
Name
Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked
Role
alias
Name
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Role
alias
Name
Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type
Role
alias
Name
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Role
alias
Name
Alpha-thalassemia Hydrops Fetalis
Role
alias
Name
Alpha-thalassemia Major
Role
alias
Name
Atr-X Syndrome
Role
alias
Name
Hemoglobin Bart's Hydrops Fetalis
Role
alias
Name
Hemoglobin H
Role
alias
Name
Homozygous Alpha0-thalassemia
Role
alias
Name
Hydrops Fetalis Due To Isoimmunization
Role
alias
Name
Non-Immune Fetal Hydrops
Role
alias
Name
Nonimmune Hydrops
Role
alias
Name
Nonimmune Hydrops Fetalis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001789HP:0001790HP:0011903
Herb
HBDIS000113HBDIS001415HBDIS006705HBDIS009546HBDIS009547HBDIS009672HBDIS010366HBDIS011655HBDIS012834HBDIS014295HBDIS016172HBDIS020056HBDIS020057HBDIS020906HBDIS020907HBDIS020908HBDIS021173HBDIS021203
Me Sh
D015160D017085
Omim
236750300448301040604131613978
Umls
C0002312C0475813C0585216C0795917C1845055C3161174C3279561
Icd10
D46.7D56.0P56.0
Sym Map
SMDE00007SMDE00621SMDE02138SMDE02864SMDE04005SMDE05134SMDE05732
Do Class
DOID:630
Dis Ge Net
C0002312C0020305C0272005C0455988C0455990C0475813C0585216C0795917C1260396C1456873C1845055C2873754C2873755C3161173C3161174C3161175C3278365C3279561
Orphanet
16359623140184798791
Umls Sty
T047T191
Hpo Class
HP:0001197HP:0001871HP:0001939
Me Sh Class
C10C13C15C16C20C23F01F03
Etcm Disease
Alpha-ThalassemiaAlpha-Thalassemia Myelodysplasia SyndromeHemoglobin H DiseaseHydrops Fetalis, Nonimmune
Tcmbank Disease
1235214892156012015720880230602435326762771229288293113010139246141741810083239309
Itcmdb Generated
ITX-DISEASE-00823DD6E97FITX-DISEASE-1ACAD71050D0ITX-DISEASE-2D18CFC0AB3AITX-DISEASE-445A716CCD7CITX-DISEASE-7F4276CBF780ITX-DISEASE-BEA7967239A8
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Alpha-Thalassemia Details pageDisease Alpha-Thalassemia Myelodysplasia Syndrome Details pageDisease Hemoglobin H Disease Details pageDisease Hydrops Fetalis, Nonimmune Details page
Do Class Name
genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of blood and blood-forming tissuesAbnormality of metabolism/homeostasis; Abnormality of prenatal development or birth
Do Disease Class
genetic disease
Hpo Disease Class
Abnormality of blood and blood-forming tissuesAbnormality of metabolism/homeostasis; Abnormality of prenatal development or birth
Umls Disease Type
Disease or SyndromeNeoplastic Process
Basic Information
Disease Name
Alpha-Thalassemia
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Immune diseases;Nephrological diseases
Disease Name
Alpha-Thalassemia Myelodysplasia Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases
Disease Name
Hemoglobin H Disease
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases
Disease Name
Hydrops Fetalis, Nonimmune
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Definition
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypHb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effJABL99:A variant of the alpha-thalassemia/mental retardation syndrome (ATR) due to deletion of a segment of the short arm of chromosome 16. A form in which there is no deletion is termed "alpha-thalassemia/mental retardation syndrome, nondeletion type" (q.v.). The phenotype is variable and consists of mental retardation in association with different combinations of oro-facial, genital, and other abnormalities.NCI2016_02D:A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule.|MSH2017_2016_08_12:A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carri
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or SyndromeNeoplastic Process