ITCMDBv1
DiseaseID 11233

Atkin综合征

disease

JABL99:Nonsyndromic mental retardation with inconsistent clinical findings which may include an elongated face, synophrys, high nasal bridge, anteverted nostrils, highly arched palate, hyperextensible fingers, umbilical

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Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.

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Disease: 1Herb: 1Symptom: 10Target: 24Links: 35
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Record Fields

Scalar fields from the final disease record.

Disease Id
11233
Core Entity Id
68598
Source Entity Count
1
Preferred Name
Atkin Syndrome
Name Cn
Atkin综合征
Name Pinyin
Atkin Zong He Zheng
Name En
Atkin 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; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms
Do Class
disease of mental health; genetic disease
Hpo Class
Mesh Class Name
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Hpo Class Name
Do Class Name
genetic disease; disease of mental health
Disease Definition
JABL99:Nonsyndromic mental retardation with inconsistent clinical findings which may include an elongated face, synophrys, high nasal bridge, anteverted nostrils, highly arched palate, hyperextensible fingers, umbilical hernia, and hip dislocation.
Version
v1
Suppressed
No

Names

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

Name
Atkin Syndrome
Role
preferred
Name
Mental Retardation, X Linked 34 (Disorder)
Role
preferred
Name
Mental Retardation, X Linked 47
Role
preferred
Name
Mental Retardation, X Linked 92
Role
preferred
Name
Mental Retardation, X-Linked 1
Role
preferred
Name
Mental Retardation, X-Linked 100
Role
preferred
Name
Mental Retardation, X-Linked 19
Role
preferred
Name
Mental Retardation, X-Linked 21
Role
preferred
Name
Mental Retardation, X-Linked 23
Role
preferred
Name
Mental Retardation, X-Linked 30
Role
preferred
Name
Mental Retardation, X-Linked 41
Role
preferred
Name
Mental Retardation, X-Linked 45
Role
preferred
Name
Mental Retardation, X-Linked 46
Role
preferred
Name
Mental Retardation, X-Linked 49
Role
preferred
Name
Mental Retardation, X-Linked 53
Role
preferred
Name
Mental Retardation, X-Linked 58
Role
preferred
Name
Mental Retardation, X-Linked 63
Role
preferred
Name
Mental Retardation, X-Linked 72
Role
preferred
Name
Mental Retardation, X-Linked 9
Role
preferred
Name
Mental Retardation, X-Linked 96
Role
preferred
Name
Mental Retardation, X-Linked 99
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 14
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 15
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 18
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 2 (disorder)
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 20
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 34 (disorder)
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 42
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 50
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 73
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 77
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 78
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 81
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 82
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 84
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 88 (disorder)
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 89
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 90 (disorder)
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 91 (disorder)
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 93 (disorder)
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 95
Role
preferred
Name
MENTAL RETARDATION, X-LINKED 98
Role
preferred
Name
Mental Retardation, X-Linked 105
Role
preferred
Name
Mental Retardation, X-Linked 47
Role
preferred
Name
Mental Retardation, X-Linked 92
Role
preferred
Name
Mental Retardation, X-Linked, Znf711-Related
Role
preferred
Name
X-Linked Non-Syndromic Intellectual Disability
Role
preferred
Name
Atkin-Flaitz Syndrome
Role
alias
Name
MENTAL RETARDATION, X-LINKED 34
Role
alias
Name
MENTAL RETARDATION, X-LINKED 44
Role
alias
Name
MENTAL RETARDATION, X-LINKED 48
Role
alias
Name
MENTAL RETARDATION, X-LINKED 68
Role
alias
Name
MRX
Role
alias
Name
MRX1
Role
alias
Name
MRX100
Role
alias
Name
MRX15
Role
alias
Name
MRX18
Role
alias
Name
MRX19
Role
alias
Name
MRX21
Role
alias
Name
MRX30
Role
alias
Name
MRX34
Role
alias
Name
MRX41
Role
alias
Name
MRX44
Role
alias
Name
MRX45
Role
alias
Name
MRX46
Role
alias
Name
MRX47
Role
alias
Name
MRX48
Role
alias
Name
MRX49
Role
alias
Name
MRX58
Role
alias
Name
MRX63
Role
alias
Name
MRX68
Role
alias
Name
MRX78
Role
alias
Name
MRX9
Role
alias
Name
MRX96
Role
alias
Name
MRX99
Role
alias
Name
Mental Retardation, X-Linked 2
Role
alias
Name
Mental Retardation, X-Linked 88
Role
alias
Name
Mental Retardation, X-Linked 90
Role
alias
Name
Mental Retardation, X-Linked 91
Role
alias
Name
Mental Retardation, X-Linked 93
Role
alias
Name
Mental Retardation, X-Linked 97
Role
alias
Name
Mental Retardation, X-Linked, With Macrocephaly
Role
alias
Name
Mrx88
Role
alias
Name
Non-Syndromic X-Linked Intellectual Disability
Role
alias
Name
Raynaud-Claes Syndrome
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Herb
HBDIS011712HBDIS011713HBDIS011715HBDIS011717HBDIS011718HBDIS011719HBDIS011720HBDIS011721HBDIS011722HBDIS011724HBDIS011726HBDIS011729HBDIS015727HBDIS016186HBDIS016187HBDIS016196HBDIS016209HBDIS016214HBDIS016215HBDIS016228HBDIS016229HBDIS016230HBDIS016241HBDIS016242HBDIS016246HBDIS016251HBDIS016266HBDIS016285HBDIS016433HBDIS018864HBDIS019532HBDIS019790HBDIS020307HBDIS021080HBDIS021083HBDIS021084HBDIS022243HBDIS022247HBDIS022757HBDIS022760HBDIS022868HBDIS029956
Omim
300300047300062300115300143300210300271300355300372300387300428300431300433300436300454300498300505300518300558300577300659300716300802300803300844300848300849300850300852300912300919300923300984309530309549
Umls
C0796206C0796215C0796221C0796224C0796225C0796229C0796237C0796241C0796249C1845144C1845181C1845333C1845526C1845672C1845889C1846038C1846174C2931498C3275408C3806730C3806746C3887939C3887959C3890167
Sym Map
SMDE00414SMDE00479SMDE00809SMDE01031SMDE01114SMDE01250SMDE01542SMDE01557SMDE01945SMDE02737SMDE03010SMDE03042SMDE03225SMDE03507SMDE03779SMDE04824SMDE06117SMDE10890SMDE10891SMDE10892SMDE10894SMDE10895SMDE10896
Do Class
DOID:150DOID:630
Dis Ge Net
C0796206C0796207C0796215C0796220C0796221C0796224C0796225C0796226C0796229C0796237C0796241C0796249C1839082C1845142C1845144C1845181C1845286C1845297C1845333C1845499C1845526C1845531C1845672C1845810C1845860C1845889C1846038C1846174C1848087C1970841C2678034C2749020C2931498C3275408C3275443C3275444C3806730C3806746C3887939C3887959C3890167C4310816
Orphanet
777
Umls Sty
T047T048
Me Sh Class
C05C10C16C23F01F03
Etcm Disease
Mental Retardation, X-Linked 100Mental Retardation, X-Linked 105Mental Retardation, X-Linked 21Mental Retardation, X-Linked 23Mental Retardation, X-Linked 42Mental Retardation, X-Linked 50Mental Retardation, X-Linked 53Mental Retardation, X-Linked 73Mental Retardation, X-Linked 92Mental Retardation, X-Linked 96Mental Retardation, X-Linked 98Mental Retardation, X-Linked 99
Tcmbank Disease
10542105531091711053110811115913046136091374713782143791443415623159961618417611774719501211772319123629243822554825841259842601127489286630096311363207032224346661176918706574738410843285048822
Itcmdb Generated
ITX-DISEASE-0598AB30B395ITX-DISEASE-0B9AE7656558ITX-DISEASE-1AAA18EACA06ITX-DISEASE-32CD063E9938ITX-DISEASE-32E692A6EC25ITX-DISEASE-45B0241DCEC0ITX-DISEASE-5C937CA0F216ITX-DISEASE-80B82BA0C127ITX-DISEASE-8EFE53674A72ITX-DISEASE-A19C737021A6ITX-DISEASE-A3050E3B898EITX-DISEASE-A4587BE1B46FITX-DISEASE-BEBFB4137FA8ITX-DISEASE-D01C3673CBD9ITX-DISEASE-D7EC347D2533ITX-DISEASE-E9419DD3FF5CITX-DISEASE-FD2DC47E05D7

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2v2
Suppress
0
Page Title
Disease Mental Retardation, X-Linked 100 Details pageDisease Mental Retardation, X-Linked 105 Details pageDisease Mental Retardation, X-Linked 21 Details pageDisease Mental Retardation, X-Linked 23 Details pageDisease Mental Retardation, X-Linked 42 Details pageDisease Mental Retardation, X-Linked 50 Details pageDisease Mental Retardation, X-Linked 53 Details pageDisease Mental Retardation, X-Linked 73 Details pageDisease Mental Retardation, X-Linked 92 Details pageDisease Mental Retardation, X-Linked 96 Details pageDisease Mental Retardation, X-Linked 98 Details pageDisease Mental Retardation, X-Linked 99 Details page
Do Class Name
genetic disease; disease of mental health
Disease Type
disease
Do Disease Class
disease of mental health; genetic disease
Umls Disease Type
Disease or SyndromeMental or Behavioral Dysfunction
Basic Information
Disease Name
Mental Retardation, X-Linked 100
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 105
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 21
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 23
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 42
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 50
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 53
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 73
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 92
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 96
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 98
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mental Retardation, X-Linked 99
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Definition
JABL99:Nonsyndromic mental retardation with inconsistent clinical findings which may include an elongated face, synophrys, high nasal bridge, anteverted nostrils, highly arched palate, hyperextensible fingers, umbilical hernia, and hip dislocation.JABL99:Nonsyndromic mental retardation with microcephaly, restlessness, and hyperactivity.JABL99:Nonsyndromic mental retardation with speech disorders.JABL99:Nonsyndromic mental retardation.JABL99:Nonsyndromic mental retardation. Golabi-Ito-Hall syndrome is considered a similar but separate entity.JABL99:Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.JABL99:Nonsyndromic moderate to severe mental retardation without any clinical manifestations.Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS)
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or SyndromeMental or Behavioral Dysfunction