PedAM

Pediatric Disease Annotations & Medicines


	gonadoblastoma

Disease ID	946
Disease	gonadoblastoma
Definition	A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
Synonym	gby gby - gonadoblastoma gonadoblastoma (morphologic abnormality) gonadoblastoma [disease/finding] gonadoblastomas gonocytoma
OMIM	OMIM:424500
DOID	DOID:3301
UMLS	C0206661
MeSH	D018238
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0013377 \| dysgerminoma \| 11 C0018051 \| gonadal dysgenesis \| 4 C0041408 \| turner syndrome \| 3 C0022735 \| klinefelter syndrome \| 1 C0950122 \| frasier syndrome \| 1 C1140680 \| ovarian ca \| 1 C0206081 \| hyperandrogenism \| 1 C0014145 \| yolk sac tumor \| 1 C0028326 \| ullrich-turner syndrome \| 1 C0034013 \| precocious puberty \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:77) 7544 \| ZFY \| DISEASES 7022 \| TFAP2C \| DISEASES 266 \| AMELY \| DISEASES 57167 \| SALL4 \| DISEASES 1917 \| EEF1A2 \| DISEASES 268 \| AMH \| DISEASES 4254 \| KITLG \| DISEASES 79923 \| NANOG \| DISEASES 847 \| CAT \| DISEASES 6662 \| SOX9 \| DISEASES 3169 \| FOXA1 \| DISEASES 6192 \| RPS4Y1 \| DISEASES 9084 \| VCY \| DISEASES 353513 \| VCY1B \| DISEASES 9426 \| CDY2A \| DISEASES 79727 \| LIN28A \| DISEASES 891 \| CCNB1 \| DISEASES 5460 \| POU5F1 \| DISEASES 4103 \| MAGEA4 \| DISEASES 3815 \| KIT \| DISEASES 251 \| ALPPL2 \| DISEASES 64321 \| SOX17 \| DISEASES 9081 \| PRY \| DISEASES 9085 \| CDY1 \| DISEASES 253175 \| CDY1B \| DISEASES 442862 \| PRY2 \| DISEASES 5940 \| RBMY1A1 \| DISEASES 442866 \| PRYP4 \| DISEASES 10655 \| DMRT2 \| DISEASES 794 \| CALB2 \| DISEASES 8630 \| HSD17B6 \| DISEASES 6657 \| SOX2 \| DISEASES 7404 \| UTY \| DISEASES 9083 \| BPY2 \| DISEASES 1915 \| EEF1A1 \| DISEASES 7490 \| WT1 \| DISEASES 1485 \| CTAG1B \| DISEASES 668 \| FOXL2 \| DISEASES 2626 \| GATA4 \| DISEASES 8653 \| DDX3Y \| DISEASES 554 \| AVPR2 \| DISEASES 442865 \| PRYP3 \| DISEASES 8287 \| USP9Y \| DISEASES 1499 \| CTNNB1 \| DISEASES 6925 \| TCF4 \| DISEASES 23224 \| SYNE2 \| DISEASES 5573 \| PRKAR1A \| DISEASES 578 \| BAK1 \| DISEASES 7259 \| TSPYL1 \| DISEASES 26227 \| PHGDH \| DISEASES 8565 \| YARS \| DISEASES 2516 \| NR5A1 \| DISEASES 8518 \| IKBKAP \| DISEASES 367 \| AR \| DISEASES 8242 \| KDM5C \| DISEASES 64061 \| TSPYL2 \| DISEASES 265 \| AMELX \| DISEASES 51481 \| VCX3A \| DISEASES 6473 \| SHOX \| DISEASES 1761 \| DMRT1 \| DISEASES 442868 \| BPY2C \| DISEASES 442867 \| BPY2B \| DISEASES 203611 \| CDY2B \| DISEASES 6736 \| SRY \| DISEASES 250 \| ALPP \| DISEASES 983 \| CDK1 \| DISEASES 174 \| AFP \| DISEASES 54704 \| PDP1 \| DISEASES 23414 \| ZFPM2 \| DISEASES 1617 \| DAZ1 \| DISEASES 57135 \| DAZ4 \| DISEASES 7258 \| TSPY1 \| DISEASES 100289087 \| TSPY10 \| DISEASES 7033 \| TFF3 \| DISEASES 50858 \| TTTY1 \| DISEASES 60439 \| TTTY2 \| DISEASES 7503 \| XIST \| DISEASES
Locus	(Waiting for update.)

Disease ID	946
Disease	gonadoblastoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0030088 \| Increased serum testosterone level HP:0001939 \| Laboratory abnormality HP:0002027 \| Abdominal pain HP:0003270 \| Abdominal distention HP:0008703 \| Gonadal calcification HP:0000150 \| Gonadoblastoma HP:0000149 \| Ovarian gonadoblastoma HP:0008730 \| Female external genitalia in individual with 46,XY karyotype HP:0008723 \| Gonadal dysgenesis with female appearance, male HP:0100621 \| Dysgerminoma HP:0000137 \| Abnormality of the ovary HP:0001007 \| Hirsutism HP:0000062 \| Ambiguous genitalia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0100621 \| Dysgerminoma \| 11 HP:0000133 \| Mixed gonadal dysgenesis \| 4 HP:0000826 \| Precocious puberty \| 1 HP:0012245 \| Sex reversal \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	946
Disease	gonadoblastoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C2700542 \| aniridia C0426768 \| o sign C0019269 \| hermaphroditism
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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