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PedAM

Pediatric Disease Annotations & Medicines



   xanthomatosis
  

Disease ID 1510
Disease xanthomatosis
Definition
A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
Synonym
xanthelasmatosis
xanthomata
xanthomatoses
xanthomatosis (disorder)
xanthomatosis [disease/finding]
xanthomatosis, nos
DOID
UMLS
C0043325
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:7)
C1136085  |  monoclonal gammopathy  |  3
C0020445  |  familial hypercholesterolemia  |  1
C0272286  |  immune thrombocytopenia  |  1
C0026764  |  multiple myeloma  |  1
C0020443  |  hypercholesterolemia  |  1
C0014544  |  epilepsy  |  1
C0086543  |  cataract  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
ABCG5  |  64240  |  CTD_human
CYP27A1  |  1593  |  GHR
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
348  |  APOE  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:98)
1595  |  CYP51A1  |  DISEASES
7414  |  VCL  |  DISEASES
1414  |  CRYBB1  |  DISEASES
6554  |  SLC10A1  |  DISEASES
2222  |  FDFT1  |  DISEASES
1666  |  DECR1  |  DISEASES
973  |  CD79A  |  DISEASES
59  |  ACTA2  |  DISEASES
1411  |  CRYBA1  |  DISEASES
1410  |  CRYAB  |  DISEASES
1594  |  CYP27B1  |  DISEASES
55856  |  ACOT13  |  DISEASES
3670  |  ISL1  |  DISEASES
338  |  APOB  |  DISEASES
335  |  APOA1  |  DISEASES
9409  |  PEX16  |  DISEASES
6718  |  AKR1D1  |  DISEASES
5184  |  PEPD  |  DISEASES
6310  |  ATXN1  |  DISEASES
968  |  CD68  |  DISEASES
348  |  APOE  |  DISEASES
8431  |  NR0B2  |  DISEASES
79727  |  LIN28A  |  DISEASES
23175  |  LPIN1  |  DISEASES
1593  |  CYP27A1  |  DISEASES
570  |  BAAT  |  DISEASES
7274  |  TTPA  |  DISEASES
2230  |  FDX1  |  DISEASES
64240  |  ABCG5  |  DISEASES
2581  |  GALC  |  DISEASES
10858  |  CYP46A1  |  DISEASES
8647  |  ABCB11  |  DISEASES
1001  |  CDH3  |  DISEASES
2651  |  GCNT2  |  DISEASES
1181  |  CLCN2  |  DISEASES
4885  |  NPTX2  |  DISEASES
3073  |  HEXA  |  DISEASES
5428  |  POLG  |  DISEASES
4240  |  MFGE8  |  DISEASES
64241  |  ABCG8  |  DISEASES
275  |  AMT  |  DISEASES
134864  |  TAAR1  |  DISEASES
710  |  SERPING1  |  DISEASES
3156  |  HMGCR  |  DISEASES
1409  |  CRYAA  |  DISEASES
79443  |  FYCO1  |  DISEASES
83592  |  AKR1E2  |  DISEASES
9382  |  COG1  |  DISEASES
1581  |  CYP7A1  |  DISEASES
2990  |  GUSB  |  DISEASES
255738  |  PCSK9  |  DISEASES
8419  |  BFSP2  |  DISEASES
4023  |  LPL  |  DISEASES
9420  |  CYP7B1  |  DISEASES
163  |  AP2B1  |  DISEASES
10170  |  DHRS9  |  DISEASES
3291  |  HSD11B2  |  DISEASES
1582  |  CYP8B1  |  DISEASES
4018  |  LPA  |  DISEASES
1555  |  CYP2B6  |  DISEASES
55328  |  RNLS  |  DISEASES
8856  |  NR1I2  |  DISEASES
1576  |  CYP3A4  |  DISEASES
347  |  APOD  |  DISEASES
55750  |  AGK  |  DISEASES
91137  |  SLC25A46  |  DISEASES
337  |  APOA4  |  DISEASES
26136  |  TES  |  DISEASES
56980  |  PRDM10  |  DISEASES
9332  |  CD163  |  DISEASES
617  |  BCS1L  |  DISEASES
9361  |  LONP1  |  DISEASES
55157  |  DARS2  |  DISEASES
22796  |  COG2  |  DISEASES
336  |  APOA2  |  DISEASES
6280  |  S100A9  |  DISEASES
50814  |  NSDHL  |  DISEASES
1718  |  DHCR24  |  DISEASES
6342  |  SCP2  |  DISEASES
26119  |  LDLRAP1  |  DISEASES
19  |  ABCA1  |  DISEASES
1880  |  GPR183  |  DISEASES
83889  |  WDR87  |  DISEASES
5160  |  PDHA1  |  DISEASES
26278  |  SACS  |  DISEASES
1130  |  LYST  |  DISEASES
3778  |  KCNMA1  |  DISEASES
10062  |  NR1H3  |  DISEASES
85300  |  ATCAY  |  DISEASES
5830  |  PEX5  |  DISEASES
6513  |  SLC2A1  |  DISEASES
629  |  CFB  |  DISEASES
4700  |  NDUFA6  |  DISEASES
2317  |  FLNB  |  DISEASES
9971  |  NR1H4  |  DISEASES
3949  |  LDLR  |  DISEASES
344  |  APOC2  |  DISEASES
4566  |  MT-TK  |  DISEASES
Locus(Waiting for update.)
Disease ID 1510
Disease xanthomatosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:6)
Disease ID 1510
Disease xanthomatosis
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)