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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   syndromic diarrhea
  

Disease ID 1936
Disease syndromic diarrhea
Synonym
diarrhea, fatal infantile, with trichorrhexis nodosa
diarrhea, syndromic
fatal infantile diarrhea with trichorrhexis nodosa
fatal infantile diarrhoea with trichorrhexis nodosa
intractable diarrhea with phenotypic anomalies
intractable diarrhoea with phenotypic anomalies
phenotypic diarrhea of infancy
phenotypic diarrhoea of infancy
syndromic diarrhoea
the syndrome
thes1
tricho-hepato-enteric syndrome
trichohepatoenteric syndrome
trichohepatoenteric syndrome (disorder)
trichohepatoenteric syndrome 1
Orphanet
OMIM
UMLS
C1857276
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:83)
C0028754  |  obesity  |  7
C0020538  |  hypertension  |  4
C0280131  |  ovarian teratoma  |  3
C0010278  |  craniosynostosis  |  3
C0018799  |  heart disease  |  2
C0086543  |  cataracts  |  2
C0017601  |  glaucoma  |  2
C0242379  |  lung cancer  |  2
C0035078  |  renal failure  |  2
C0011991  |  diarrhea  |  2
C0041296  |  tuberculosis  |  2
C0149925  |  small cell lung cancer  |  2
C0001418  |  adenocarcinoma  |  2
C0036439  |  scoliosis  |  2
C0442874  |  neuropathy  |  2
C0009806  |  constipation  |  2
C0152021  |  congenital heart disease  |  2
C0006142  |  breast cancer  |  2
C0033687  |  proteinuria  |  2
C0679466  |  cognitive deficits  |  2
C0149931  |  migraine  |  2
C0948265  |  metabolic syndrome  |  2
C0376545  |  hematological malignancy  |  1
C0003467  |  anxiety  |  1
C0016522  |  patent foramen ovale  |  1
C0032326  |  pneumothorax  |  1
C0042961  |  volvulus  |  1
C0022658  |  renal disease  |  1
C0476089  |  endometrial cancer  |  1
C0011884  |  diabetic retinopathy  |  1
C0005684  |  bladder cancer  |  1
C0007115  |  thyroid cancer  |  1
C0008925  |  cleft palate  |  1
C0010481  |  cushing's syndrome  |  1
C0020542  |  pulmonary hypertension  |  1
C0162316  |  iron deficiency anemia  |  1
C0028756  |  morbid obesity  |  1
C0013537  |  eclampsia  |  1
C0476089  |  endometrial ca  |  1
C1621895  |  adrenal hyperplasia  |  1
C0024530  |  malaria  |  1
C0020302  |  juvenile glaucoma  |  1
C1956089  |  osteophytes  |  1
C0013338  |  growth hormone deficiency  |  1
C0032914  |  preeclampsia  |  1
C0278701  |  gastric adenocarcinoma  |  1
C0033975  |  psychosis  |  1
C0020676  |  hypothyroidism  |  1
C0031117  |  peripheral neuropathy  |  1
C0013395  |  dyspepsia  |  1
C0011570  |  depression  |  1
C0039538  |  teratoma  |  1
C0013384  |  dyskinesia  |  1
C0276357  |  swine influenza  |  1
C0020541  |  portal hypertension  |  1
C0162429  |  nutritional deficiencies  |  1
C0007785  |  cerebral infarctions  |  1
C0021359  |  infertility  |  1
C0040034  |  thrombocytopenia  |  1
C0026848  |  myopathy  |  1
C0042769  |  virus infection  |  1
C0007115  |  thyroid ca  |  1
C0008780  |  primary ciliary dyskinesia  |  1
C0025362  |  mental retardation  |  1
C0042345  |  varicose veins  |  1
C0271650  |  glucose intolerance  |  1
C0020550  |  hyperthyroidism  |  1
C1258215  |  ileus  |  1
C0022661  |  end-stage renal failure  |  1
C0041327  |  pulmonary tuberculosis  |  1
C0021053  |  immune disease  |  1
C0014544  |  epilepsy  |  1
C0013371  |  shigella  |  1
C0018801  |  heart failure  |  1
C0007134  |  renal cell carcinoma  |  1
C0020456  |  hyperglycemia  |  1
C0007785  |  cerebral infarct  |  1
C0022661  |  end-stage renal disease  |  1
C0042345  |  varicose vein  |  1
C0009763  |  conjunctivitis  |  1
C0007785  |  cerebral infarction  |  1
C0040156  |  thyrotoxicosis  |  1
C0206081  |  hyperandrogenism  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
9652  |  TTC37  |  CLINVAR;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:2)
TTC37  |  5q15
SKIV2L  |  6p21.33
Disease ID 1936
Disease syndromic diarrhea
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:101)
HP:0002902  |  Hyponatremia  |  10
HP:0001513  |  Obesity  |  7
HP:0000822  |  Hypertension  |  4
HP:0002315  |  Headaches  |  4
HP:0000365  |  Hearing impairment  |  3
HP:0012226  |  Ovarian teratoma  |  3
HP:0001363  |  Early fusion of cranial sutures  |  3
HP:0012531  |  Pain  |  3
HP:0002019  |  Dyschezia  |  3
HP:0001541  |  Ascites  |  2
HP:0000855  |  Insulin resistance  |  2
HP:0100601  |  Eclampsia  |  2
HP:0000083  |  Renal insufficiency  |  2
HP:0002650  |  Scoliosis  |  2
HP:0002664  |  Neoplasia  |  2
HP:0030357  |  Small cell lung carcinoma  |  2
HP:0001249  |  Mental retardation  |  2
HP:0003002  |  Breast carcinoma  |  2
HP:0100543  |  Cognitive deficits  |  2
HP:0000518  |  Cataract  |  2
HP:0003774  |  End-stage renal failure  |  2
HP:0000501  |  Glaucoma  |  2
HP:0000716  |  Depression  |  2
HP:0002721  |  Immunodeficiency  |  2
HP:0002014  |  Diarrhea  |  2
HP:0004322  |  Stature below 3rd percentile  |  2
HP:0100806  |  Sepsis  |  2
HP:0002076  |  Migraine headaches  |  2
HP:0000093  |  Proteinuria  |  2
HP:0001300  |  Parkinsonism  |  1
HP:0001873  |  Low platelet count  |  1
HP:0001409  |  Portal hypertension  |  1
HP:0000709  |  Psychosis  |  1
HP:0002092  |  Pulmonary artery hypertension  |  1
HP:0004395  |  Malnutrition  |  1
HP:0003537  |  Low blood uric acid levels  |  1
HP:0002580  |  Volvulus  |  1
HP:0001824  |  Weight loss  |  1
HP:0000691  |  Decreased width of tooth  |  1
HP:0000164  |  Abnormality of the teeth  |  1
HP:0001263  |  Developmental retardation  |  1
HP:0000509  |  Conjunctivitis  |  1
HP:0000789  |  Infertility  |  1
HP:0000360  |  Ringing in the ears  |  1
HP:0011915  |  Cardiovascular calcification  |  1
HP:0045005  |  Neural tube defect  |  1
HP:0001252  |  Hypotonia  |  1
HP:0001891  |  Iron-deficiency anemia  |  1
HP:0008221  |  Enlarged adrenal glands  |  1
HP:0001627  |  Congenital heart defects  |  1
HP:0000303  |  Increased size of lower jaw  |  1
HP:0003074  |  High blood glucose  |  1
HP:0004934  |  Vascular calcification  |  1
HP:0001399  |  Liver failure  |  1
HP:0001270  |  Motor retardation  |  1
HP:0002273  |  Tetraparesis  |  1
HP:0002251  |  Hirschsprung megacolon  |  1
HP:0001298  |  Encephalopathy  |  1
HP:0001511  |  Prenatal onset growth retardation  |  1
HP:0002797  |  Increased bone resorption  |  1
HP:0009725  |  Bladder neoplasm  |  1
HP:0001655  |  Patent foramen ovale  |  1
HP:0002595  |  Gastrointestinal atony  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0002072  |  Chorea  |  1
HP:0002107  |  Collapsed lung  |  1
HP:0000078  |  Genital abnormalities  |  1
HP:0001681  |  Angina pectoris  |  1
HP:0000212  |  Gingival overgrowth  |  1
HP:0030731  |  Carcinoma  |  1
HP:0009726  |  Renal neoplasm  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0000739  |  Anxiety  |  1
HP:0012265  |  Ciliary dyskinesia  |  1
HP:0100660  |  Dyskinesis  |  1
HP:0002804  |  Arthrogryposis multiplex congenita  |  1
HP:0009126  |  Increased adipose tissue  |  1
HP:0100602  |  Pre-eclampsia  |  1
HP:0005584  |  Renal cell carcinoma  |  1
HP:0000833  |  Glucose intolerance  |  1
HP:0001987  |  Hyperammonemia  |  1
HP:0009792  |  Teratoma  |  1
HP:0000175  |  Palatoschisis  |  1
HP:0008978  |  Necrotizing myopathy  |  1
HP:0008629  |  Pulsatile tinnitus  |  1
HP:0030907  |  Thunderclap headache  |  1
HP:0001880  |  Eosinophilia  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0002888  |  Ependymoma  |  1
HP:0000708  |  Behavioral problems  |  1
HP:0002619  |  Varicose veins  |  1
HP:0000821  |  Underactive thyroid  |  1
HP:0000824  |  Growth hormone deficiency  |  1
HP:0012125  |  Prostate cancer  |  1
HP:0001382  |  Hyperextensible joints  |  1
HP:0008080  |  Medially deviated halluces  |  1
HP:0001279  |  Syncope  |  1
HP:0009830  |  Peripheral neuritis  |  1
HP:0012743  |  Central obesity  |  1
HP:0003198  |  Myopathic changes  |  1
HP:0002120  |  Cerebral cortical atrophy  |  1
Disease ID 1936
Disease syndromic diarrhea
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:3)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs387907147NA9652TTC37umls:C1857276CLINVARNA0.241085767NATTC37595540794GA
rs387907148NA9652TTC37umls:C1857276CLINVARNA0.241085767NATTC37595517186GA
rs534237033NA9652TTC37umls:C1857276CLINVARNA0.241085767NATTC37595512589CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1936
Disease syndromic diarrhea
Case(Waiting for update.)