PedAM

Pediatric Disease Annotations & Medicines


	urea cycle disorder

Disease ID	1204
Disease	urea cycle disorder
Definition	inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations.
Synonym	cycle disorders urea dis urea cycle metabol disorder of the urea cycle metabolism disorder of the urea cycle metabolism (disorder) disorder of the urea cycle metabolism, nos disorder of urea cycle disorder of urea cycle metabolism disorder, urea cycle disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorders of urea cycle metabolism disorders, urea cycle inborn urea cycle disorder of urea cycle disorder urea cycle disorders urea cycle disorders, inborn urea cycle disorders, inborn [disease/finding] urea cycle metabolism disorder
DOID	DOID:9267
UMLS	C0154246
MeSH	D056806
SNOMED-CT	SNOMEDCT_US_2016_09_01:36444000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0268542 \| ornithine transcarbamylase deficiency \| 2 C0268128 \| orotic aciduria \| 1 C0034194 \| pyloric stenosis \| 1 C0268548 \| hyperargininemia \| 1 C0175683 \| argininosuccinate synthetase deficiency \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) ARG1 \| 383 \| GHR SLC25A13 \| 10165 \| GHR OTC \| 5009 \| GHR ASS1 \| 445 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:85) 5009 \| OTC \| DISEASES 158 \| ADSL \| DISEASES 2937 \| GSS \| DISEASES 3163 \| HMOX2 \| DISEASES 2639 \| GCDH \| DISEASES 6198 \| RPS6KB1 \| DISEASES 2584 \| GALK1 \| DISEASES 5250 \| SLC25A3 \| DISEASES 7372 \| UMPS \| DISEASES 33 \| ACADL \| DISEASES 1509 \| CTSD \| DISEASES 83884 \| SLC25A2 \| DISEASES 35 \| ACADS \| DISEASES 445 \| ASS1 \| DISEASES 2660 \| MSTN \| DISEASES 2184 \| FAH \| DISEASES 384 \| ARG2 \| DISEASES 23531 \| MMD \| DISEASES 8647 \| ABCB11 \| DISEASES 3004 \| GZMM \| DISEASES 3073 \| HEXA \| DISEASES 1807 \| DPYS \| DISEASES 740 \| MRPL49 \| DISEASES 5805 \| PTS \| DISEASES 3081 \| HGD \| DISEASES 9056 \| SLC7A7 \| DISEASES 8659 \| ALDH4A1 \| DISEASES 112939 \| NACC1 \| DISEASES 162417 \| NAGS \| DISEASES 11067 \| C10orf10 \| DISEASES 3251 \| HPRT1 \| DISEASES 6236 \| RRAD \| DISEASES 92292 \| GLYATL1 \| DISEASES 53354 \| PANK1 \| DISEASES 2720 \| GLB1 \| DISEASES 435 \| ASL \| DISEASES 54968 \| TMEM70 \| DISEASES 5105 \| PCK1 \| DISEASES 25898 \| RCHY1 \| DISEASES 2027 \| ENO3 \| DISEASES 51733 \| UPB1 \| DISEASES 788 \| SLC25A20 \| DISEASES 6906 \| SERPINA7 \| DISEASES 9376 \| SLC22A8 \| DISEASES 5873 \| RAB27A \| DISEASES 3141 \| HLCS \| DISEASES 58526 \| MID1IP1 \| DISEASES 10249 \| GLYAT \| DISEASES 10166 \| SLC25A15 \| DISEASES 54496 \| PRMT7 \| DISEASES 875 \| CBS \| DISEASES 37 \| ACADVL \| DISEASES 5625 \| PRODH \| DISEASES 60 \| ACTB \| DISEASES 23038 \| WDTC1 \| DISEASES 84947 \| SERAC1 \| DISEASES 383 \| ARG1 \| DISEASES 2205 \| FCER1A \| DISEASES 116150 \| NUS1 \| DISEASES 284486 \| THEM5 \| DISEASES 1806 \| DPYD \| DISEASES 1244 \| ABCC2 \| DISEASES 953 \| ENTPD1 \| DISEASES 2902 \| GRIN1 \| DISEASES 55315 \| SLC29A3 \| DISEASES 3155 \| HMGCL \| DISEASES 229 \| ALDOB \| DISEASES 353 \| APRT \| DISEASES 7102 \| TSPAN7 \| DISEASES 6103 \| RPGR \| DISEASES 6990 \| DYNLT3 \| DISEASES 1536 \| CYBB \| DISEASES 7504 \| XK \| DISEASES 3030 \| HADHA \| DISEASES 406 \| ARNTL \| DISEASES 10157 \| AASS \| DISEASES 5091 \| PC \| DISEASES 831 \| CAST \| DISEASES 3033 \| HADH \| DISEASES 3778 \| KCNMA1 \| DISEASES 94122 \| SYTL5 \| DISEASES 10165 \| SLC25A13 \| DISEASES 1373 \| CPS1 \| DISEASES 2994 \| GYPB \| DISEASES 5053 \| PAH \| DISEASES
Locus	(Waiting for update.)

Disease ID	1204
Disease	urea cycle disorder
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0001987 \| Hyperammonemia \| 5 HP:0001298 \| Encephalopathy \| 2 HP:0001254 \| Lethargy \| 1 HP:0001399 \| Liver failure \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0002910 \| Elevated transaminases \| 1 HP:0002021 \| Pyloric stenosis \| 1 HP:0002013 \| Emesis \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0003217 \| Hyperglutaminemia \| 1 HP:0011968 \| Feeding difficulties \| 1

Disease ID	1204
Disease	urea cycle disorder
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.)

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