Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		0.300 GeneticVariation disease ORPHANET Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. 17644778 2007
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 Biomarker phenotype HPO
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.100 Biomarker disease HPO
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		0.100 Biomarker disease HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.100 Biomarker phenotype HPO
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.100 Biomarker group HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		0.100 Biomarker phenotype HPO
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		0.100 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		0.100 Biomarker phenotype HPO
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.100 Biomarker disease HPO
CUI: C0266371
Disease: Streak ovary
Streak ovary 		0.100 Biomarker disease HPO
CUI: C0266427
Disease: Testicular regression syndrome
Testicular regression syndrome 		0.100 Biomarker disease HPO
CUI: C0345309
Disease: Hypoplasia of vagina
Hypoplasia of vagina 		0.100 Biomarker disease HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.100 Biomarker disease HPO
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		0.100 Biomarker disease HPO
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		0.100 Biomarker disease HPO
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		0.100 Biomarker disease HPO