PedAM

Pediatric Disease Annotations & Medicines


	mixed gonadal dysgenesis

Disease ID	985
Disease	mixed gonadal dysgenesis
Definition	A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
Synonym	46, xy 45, x/46, xy mosaicism gonadal dysgenesis, mixed gonadal dysgenesis, mixed [disease/finding] mixed gonadal dysgenesis (disorder) mosaicism 45, x
DOID	DOID:14449
UMLS	C0018055
MeSH	D006060
SNOMED-CT	SNOMEDCT_US_2016_09_01:83579008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0003486 \| aortic aneurysm \| 1 C0206661 \| gonadoblastoma \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 7544 \| ZFY \| DISEASES 268 \| AMH \| DISEASES 5961 \| PRPH2 \| DISEASES 6662 \| SOX9 \| DISEASES 269 \| AMHR2 \| DISEASES 1588 \| CYP19A1 \| DISEASES 50846 \| DHH \| DISEASES 2796 \| GNRH1 \| DISEASES 3815 \| KIT \| DISEASES 3973 \| LHCGR \| DISEASES 9317 \| PTER \| DISEASES 8630 \| HSD17B6 \| DISEASES 7490 \| WT1 \| DISEASES 668 \| FOXL2 \| DISEASES 1499 \| CTNNB1 \| DISEASES 8518 \| IKBKAP \| DISEASES 367 \| AR \| DISEASES 190 \| NR0B1 \| DISEASES 6736 \| SRY \| DISEASES 174 \| AFP \| DISEASES 54704 \| PDP1 \| DISEASES 1617 \| DAZ1 \| DISEASES 57135 \| DAZ4 \| DISEASES 7258 \| TSPY1 \| DISEASES 100289087 \| TSPY10 \| DISEASES 23089 \| PEG10 \| DISEASES 8284 \| KDM5D \| DISEASES
Locus	(Waiting for update.)

Disease ID	985
Disease	mixed gonadal dysgenesis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0000150 \| Gonadoblastoma \| 1 HP:0002617 \| Aneurysmal dilatation \| 1

Disease ID	985
Disease	mixed gonadal dysgenesis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0232939 \| primary amenorrhea C0206661 \| gonadoblastoma C0019269 \| hermaphroditism
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0206661 \| gonadoblastoma \| 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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