Phenotype: Hydrocele testis (HP:0000034)
Associated genes and diseases:
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: SOX18
disease_id: ORPHA:69735
disease_name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
gene_symbol: SOX18
disease_id: OMIM:607823
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
gene_symbol: DPH2
disease_id: OMIM:620062
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: PIK3CA
disease_id: ORPHA:314662
disease_name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: PTEN
disease_id: OMIM:605309
disease_name: MACROCEPHALY/AUTISM SYNDROME
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: PIEZO1
disease_id: OMIM:616843
disease_name: LYMPHATIC MALFORMATION 6
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: FLT4
disease_id: OMIM:153100
disease_name: LYMPHATIC MALFORMATION 1
gene_symbol: FLT4
disease_id: ORPHA:79452
disease_name: Milroy disease
Hereditary lymphedema type I
Nonne-Milroy lymphedema
gene_symbol: ANGPT2
disease_id: OMIM:619369
disease_name: LYMPHATIC MALFORMATION 10
gene_symbol: ADAMTS3
disease_id: OMIM:618154
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
gene_symbol: SETD1A
disease_id: OMIM:618832
disease_name: EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: PEX11B
disease_id: OMIM:614920
disease_name: PEROXISOME BIOGENESIS DISORDER 14B
gene_symbol: THSD1
disease_id: OMIM:620244
disease_name: LYMPHATIC MALFORMATION 13
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: SLC25A10
disease_id: OMIM:618972
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 19
gene_symbol: SPECC1L
disease_id: OMIM:145420
disease_name: HYPERTELORISM, TEEBI TYPE
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: ATAD3A
disease_id: OMIM:618810
disease_name: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL
gene_symbol: MDFIC
disease_id: OMIM:620014
disease_name: LYMPHATIC MALFORMATION 12
gene_symbol: VEGFC
disease_id: OMIM:615907
disease_name: LYMPHATIC MALFORMATION 4
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS