PedAM

Pediatric Disease Annotations & Medicines


	tricuspid atresia

Disease ID	964
Disease	tricuspid atresia
Definition	Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional.
Synonym	absent right atrioventricular connection atresia, tricuspid atresia, tricuspid valve atresias, tricuspid atresias, tricuspid valve congenital atresia of tricuspid valve congenital atresia of tricuspid valve (disorder) right atrioventricular valve atresia right atrioventricular valve atresia (disorder) ta - tricuspid atresia tricuspid atresia (disorder) tricuspid atresia [disease/finding] tricuspid atresias tricuspid valve atresia tricuspid valve atresias tricuspid valve, atresia valve atresia, tricuspid valve atresias, tricuspid
Orphanet	ORPHANET:1209
OMIM	OMIM:605067
UMLS	C0243002
MeSH	D018785
SNOMED-CT	SNOMEDCT_US_2016_09_01:253455004;SNOMEDCT_US_2016_09_01:63042009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0018818 \| ventricular septal defect \| 2 C0020542 \| pulmonary hypertension \| 1 C0265202 \| seckel syndrome \| 1 C0040053 \| thrombus \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:54) 652 \| BMP4 \| DISEASES 2657 \| GDF1 \| DISEASES 182 \| JAG1 \| DISEASES 6926 \| TBX3 \| DISEASES 55654 \| TMEM127 \| DISEASES 55997 \| CFC1 \| DISEASES 2324 \| FLT4 \| DISEASES 6604 \| SMARCD3 \| DISEASES 6521 \| SLC4A1 \| DISEASES 29899 \| GPSM2 \| DISEASES 3371 \| TNC \| DISEASES 7008 \| TEF \| DISEASES 4851 \| NOTCH1 \| DISEASES 7547 \| ZIC3 \| DISEASES 5966 \| REL \| DISEASES 4724 \| NDUFS4 \| DISEASES 89927 \| C16orf45 \| DISEASES 55897 \| MESP1 \| DISEASES 5308 \| PITX2 \| DISEASES 79192 \| IRX1 \| DISEASES 6910 \| TBX5 \| DISEASES 137814 \| NKX2-6 \| DISEASES 78987 \| CRELD1 \| DISEASES 1482 \| NKX2-5 \| DISEASES 4772 \| NFATC1 \| DISEASES 6899 \| TBX1 \| DISEASES 2626 \| GATA4 \| DISEASES 3266 \| ERAS \| DISEASES 165904 \| XIRP1 \| DISEASES 3638 \| INSIG1 \| DISEASES 5265 \| SERPINA1 \| DISEASES 4624 \| MYH6 \| DISEASES 3084 \| NRG1 \| DISEASES 1969 \| EPHA2 \| DISEASES 9464 \| HAND2 \| DISEASES 1201 \| CLN3 \| DISEASES 773 \| CACNA1A \| DISEASES 1066 \| CES1 \| DISEASES 4535 \| MT-ND1 \| DISEASES 2153 \| F5 \| DISEASES 2117 \| ETV3 \| DISEASES 23493 \| HEY2 \| DISEASES 653 \| BMP5 \| DISEASES 5225 \| PGC \| DISEASES 6390 \| SDHB \| DISEASES 6392 \| SDHD \| DISEASES 7010 \| TEK \| DISEASES 347734 \| SLC35B2 \| DISEASES 655 \| BMP7 \| DISEASES 23414 \| ZFPM2 \| DISEASES 7441 \| VPREB1 \| DISEASES 57057 \| TBX20 \| DISEASES 3987 \| LIMS1 \| DISEASES 103752588 \| PACERR \| DISEASES
Locus	(Waiting for update.)

Disease ID	964
Disease	tricuspid atresia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0001660 \| Common arterial trunk \| 3 HP:0011604 \| Aortopulmonary window \| 3 HP:0001649 \| Tachycardia \| 2 HP:0005134 \| Absence of the pulmonary valve \| 2 HP:0001629 \| Ventricular septal defects \| 2 HP:0011536 \| Right atrial isomerism \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0001669 \| Transposition of the great arteries \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0030853 \| Heterotaxy \| 1 HP:0006695 \| Atrioventricular septal defect, partial \| 1

Disease ID	964
Disease	tricuspid atresia
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:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0243002	valproic acid	D014635	99-66-1	tricuspid atresia	MESH:D018785	marker/mechanism	8211818

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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