PedAM

Pediatric Disease Annotations & Medicines


	scurvy

Disease ID	570
Disease	scurvy
Definition	An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs.
Synonym	hypoascorbemia hypoascorbemias scorbutus scurvies scurvy (disorder) scurvy [disease/finding] vitamin c, inability to synthesize
OMIM	OMIM:240400
DOID	DOID:13724
UMLS	C0036474
MeSH	D012614
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0034150 \| purpura \| 2 C0376480 \| gingival enlargement \| 1 C0018801 \| heart failure \| 1 C0949690 \| spondyloarthritis \| 1 C0020538 \| hypertension \| 1 C0020542 \| pulmonary hypertension \| 1 C0004352 \| autism \| 1 C0002871 \| anemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) GULOP \| 2989 \| CTD_human;OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 1634 \| DCN \| DISEASES 79931 \| TNIP3 \| DISEASES 3162 \| HMOX1 \| DISEASES 1311 \| COMP \| DISEASES 4256 \| MGP \| DISEASES 6678 \| SPARC \| DISEASES 2806 \| GOT2 \| DISEASES 3630 \| INS \| DISEASES 2056 \| EPO \| DISEASES 9104 \| RGN \| DISEASES 55850 \| USE1 \| DISEASES 2817 \| GPC1 \| DISEASES 5443 \| POMC \| DISEASES 1021 \| CDK6 \| DISEASES 3263 \| HPX \| DISEASES 6523 \| SLC5A1 \| DISEASES 231 \| AKR1B1 \| DISEASES 152185 \| SPICE1 \| DISEASES 213 \| ALB \| DISEASES 7184 \| HSP90B1 \| DISEASES 3479 \| IGF1 \| DISEASES 9963 \| SLC23A1 \| DISEASES 993 \| CDC25A \| DISEASES 2147 \| F2 \| DISEASES 48 \| ACO1 \| DISEASES 10327 \| AKR1A1 \| DISEASES 2200 \| FBN1 \| DISEASES 5034 \| P4HB \| DISEASES 3043 \| HBB \| DISEASES 10011 \| SRA1 \| DISEASES 3266 \| ERAS \| DISEASES 9962 \| SLC23A2 \| DISEASES 3240 \| HP \| DISEASES 23141 \| ANKLE2 \| DISEASES 871 \| SERPINH1 \| DISEASES 9464 \| HAND2 \| DISEASES 58484 \| NLRC4 \| DISEASES 9859 \| CEP170 \| DISEASES 54583 \| EGLN1 \| DISEASES 632 \| BGLAP \| DISEASES 262 \| AMD1 \| DISEASES 840 \| CASP7 \| DISEASES 91851 \| CHRDL1 \| DISEASES 80312 \| TET1 \| DISEASES 10549 \| PRDX4 \| DISEASES 6439 \| SFTPB \| DISEASES 7784 \| ZP3 \| DISEASES 6696 \| SPP1 \| DISEASES 200424 \| TET3 \| DISEASES 6513 \| SLC2A1 \| DISEASES 51071 \| DERA \| DISEASES 3077 \| HFE \| DISEASES 4522 \| MTHFD1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	570
Disease	scurvy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0001939 \| Laboratory abnormality
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0000979 \| Purpura \| 2 HP:0001635 \| Congestive heart failure \| 1 HP:0000717 \| Autism \| 1 HP:0001903 \| Anemia \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0001708 \| Impaired right ventricular function \| 1 HP:0000573 \| Retinal hemorrhage \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0012378 \| Fatigue \| 1 HP:0000822 \| Hypertension \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0000212 \| Gingival overgrowth \| 1 HP:0001300 \| Parkinsonism \| 1

Disease ID	570
Disease	scurvy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C1000483 \| anemia C0751931 \| femoral neuropathy C0422833 \| ent symptoms C0019080 \| hemorrhage C0018799 \| cardiac disorders C0018799 \| cardiac disorder C0003969 \| vitamin c deficiency C0002888 \| megaloblastic anemia C0002888 \| megaloblastic anaemia C0002871 \| anaemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0002871 \| anemia \| 1

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.)

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