PedAM

Pediatric Disease Annotations & Medicines


	good syndrome

Disease ID	409
Disease	good syndrome
Definition	An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. [url:http://en.wikipedia.org/wiki/Good_syndrome, url:http://icvts.ctsnetjournals.org/cgi/reprint/9/4/750] - NORD Reference: NORD
Synonym	good's syndrome goods syndrome immunodeficiency with thymoma immunodeficiency with thymoma (disorder) thymoma with immunodeficiency
Orphanet	ORPHANET:169105
DOID	DOID:0060028
UMLS	C0221027
SNOMED-CT	SNOMEDCT_US_2016_09_01:9893005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0281963 \| red cell aplasia \| 3 C0034902 \| pure red cell aplasia \| 3 C0023646 \| lichen planus \| 1 C0011991 \| diarrhea \| 1 C0205969 \| malignant thymoma \| 1 C0040100 \| thymoma \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:52) 201294 \| UNC13D \| DISEASES 3053 \| SERPIND1 \| DISEASES 54623 \| PAF1 \| DISEASES 1949 \| EFNB3 \| DISEASES 1958 \| EGR1 \| DISEASES 9479 \| MAPK8IP1 \| DISEASES 4035 \| LRP1 \| DISEASES 1948 \| EFNB2 \| DISEASES 1236 \| CCR7 \| DISEASES 9253 \| NUMBL \| DISEASES 23495 \| TNFRSF13B \| DISEASES 60482 \| SLC5A7 \| DISEASES 2208 \| FCER2 \| DISEASES 2041 \| EPHA1 \| DISEASES 326 \| AIRE \| DISEASES 60675 \| PROK2 \| DISEASES 5798 \| PTPRN \| DISEASES 216 \| ALDH1A1 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 10296 \| MAEA \| DISEASES 3688 \| ITGB1 \| DISEASES 1241 \| LTB4R \| DISEASES 695 \| BTK \| DISEASES 29851 \| ICOS \| DISEASES 27436 \| EML4 \| DISEASES 55748 \| CNDP2 \| DISEASES 83482 \| SCRT1 \| DISEASES 5133 \| PDCD1 \| DISEASES 6400 \| SEL1L \| DISEASES 6444 \| SGCD \| DISEASES 23583 \| SMUG1 \| DISEASES 3084 \| NRG1 \| DISEASES 1969 \| EPHA2 \| DISEASES 8676 \| STX11 \| DISEASES 959 \| CD40LG \| DISEASES 2833 \| CXCR3 \| DISEASES 50943 \| FOXP3 \| DISEASES 100507436 \| MICA \| DISEASES 7133 \| TNFRSF1B \| DISEASES 5100 \| PCDH8 \| DISEASES 4038 \| LRP4 \| DISEASES 375790 \| AGRN \| DISEASES 2051 \| EPHB6 \| DISEASES 5537 \| PPP6C \| DISEASES 9058 \| SLC13A2 \| DISEASES 7124 \| TNF \| DISEASES 284111 \| SLC13A5 \| DISEASES 7153 \| TOP2A \| DISEASES 6949 \| TCOF1 \| DISEASES 4043 \| LRPAP1 \| DISEASES 727897 \| MUC5B \| DISEASES 930 \| CD19 \| DISEASES
Locus	(Waiting for update.)

Disease ID	409
Disease	good syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:20) HP:0001881 \| Abnormality of leukocytes HP:0001618 \| Dysphonia HP:0001903 \| Anemia HP:0002205 \| Recurrent respiratory infections HP:0010515 \| Aplasia/Hypoplasia of the thymus HP:0012735 \| Cough HP:0001873 \| Thrombocytopenia HP:0004313 \| Decreased antibody level in blood HP:0000010 \| Recurrent urinary tract infections HP:0002110 \| Bronchiectasis HP:0100721 \| Mediastinal lymphadenopathy HP:0002015 \| Dysphagia HP:0003473 \| Fatigable weakness HP:0000819 \| Diabetes mellitus HP:0002014 \| Diarrhea HP:0000246 \| Sinusitis HP:0000508 \| Ptosis HP:0100522 \| Thymoma HP:0001581 \| Recurrent skin infections HP:0002094 \| Dyspnea
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0012410 \| Pure red cell aplasia \| 3 HP:0100522 \| Thymoma \| 1 HP:0002719 \| infections, recurrent \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0002028 \| Chronic diarrhea \| 1 HP:0002014 \| Diarrhea \| 1

Disease ID	409
Disease	good syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2707258 \| infections C0238097 \| cytomegalovirus encephalitis C0206178 \| cytomegalovirus retinitis C0206178 \| cmv retinitis C0035333 \| retinitis C0025064 \| mediastinitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0021311 \| infections \| 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000010	Recurrent urinary tract infections	MP:0003617	urinary bladder hypoplasia;HP:0008872	Feeding difficulties in infancy

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002093	Respiratory insufficiency	MP:0011250	abdominal situs ambiguus;HP:0000010	Recurrent urinary tract infections

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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