Phenotype: Abnormal male internal genitalia morphology (HP:0000022)
Associated genes and diseases:
gene_symbol: SOX9
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: NR5A1
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: SRY
disease_id: ORPHA:2138
disease_name: 46,XX ovotesticular difference of sex development
46,XX ovotesticular DSD
46,XX ovotesticular disorder of sex development
gene_symbol: DHX37
disease_id: ORPHA:983
disease_name: Testicular regression syndrome
ETRS
Embryonic testicular regression syndrome
TRS
Vanishing testes syndrome
Vanishing testis syndrome
XY gonadal agenesis syndrome
gene_symbol: HGD
disease_id: ORPHA:56
disease_name: Alkaptonuria
Hereditary ochronosis
Homogentisic acid oxidase deficiency
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: BTK
disease_id: OMIM:307200
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: UNG
disease_id: OMIM:608106
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: NAB2
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: STAT6
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: DHH
disease_id: OMIM:233420
disease_name: 46,XY SEX REVERSAL 7
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: HNF1B
disease_id: ORPHA:93111
disease_name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
ADTKD-HNF1B
HNF1B-MODY
HNF1B-related nephropathy
MODY5
Maturity-onset diabetes of the young type 5
RCAD syndrome
Renal cysts and diabetes syndrome
Renal dysfunction-early-onset diabetes syndrome
gene_symbol: BRCA1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD51D
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BRCA2
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BRCA2
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: PTEN
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: PTEN
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: RAD50
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BARD1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD51
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: NBN
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD51C
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BRIP1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: MRE11
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: PALB2
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: CHEK2
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: CHEK2
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: EPHB2
disease_id: OMIM:603688
disease_name: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY
gene_symbol: ZFHX3
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: MXI1
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: MAD1L1
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: KLF6
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: RNF43
disease_id: ORPHA:157798
disease_name: Serrated polyposis syndrome
Hyperplastic polyposis syndrome
gene_symbol: RNASEL
disease_id: OMIM:601518
disease_name: PROSTATE CANCER, HEREDITARY, 1
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: BMPR1A
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: FOXE1
disease_id: OMIM:616534
disease_name: THYROID CANCER, NONMEDULLARY, 4
gene_symbol: NTHL1
disease_id: OMIM:616415
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 3
gene_symbol: COL14A1
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: AAGAB
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: ADGRG2
disease_id: ORPHA:48
disease_name: Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
gene_symbol: ADGRG2
disease_id: OMIM:300985
disease_name: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED
gene_symbol: CFTR
disease_id: ORPHA:48
disease_name: Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
gene_symbol: CFTR
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CFTR
disease_id: OMIM:277180
disease_name: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF
gene_symbol: STX1A
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GSTM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: TGFB1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GCLC
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC11A1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: DCTN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: KCNN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: MIF
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: EDNRA
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC9A3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HMOX1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC26A9
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HFE
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC6A14
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SERPINA1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CLCA4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM6
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: AR
disease_id: OMIM:312300
disease_name: ANDROGEN INSENSITIVITY, PARTIAL
gene_symbol: PIK3CA
disease_id: ORPHA:314662
disease_name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: CLDN2
disease_id: OMIM:301060
disease_name: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS
gene_symbol: TP53
disease_id: OMIM:151623
disease_name: LI-FRAUMENI SYNDROME