TaoMedAI/RareMedData huggingface dataset:
Gene: SOX18
Phenotype: Freckling (HP:0001480)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Telangiectasia of extensor surfaces (HP:0007621)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Palpebral edema (HP:0100540)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Palpebral edema (HP:0100540)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Dermal translucency (HP:0010648)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Progressive (HP:0003676)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Lymphedema (HP:0001004)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Facial telangiectasia in butterfly midface distribution (HP:0005598)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Third trimester onset (HP:0034197)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Fetal onset (HP:0011461)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Long nose (HP:0003189)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Thin skin (HP:0000963)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Epicanthus (HP:0000286)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Alopecia (HP:0001596)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Alopecia (HP:0001596)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Alopecia (HP:0001596)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Ascites (HP:0001541)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Pulmonary lymphangiectasia (HP:0006521)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Oval face (HP:0000300)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SOX18
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME (OMIM:137940)
Gene: SOX18
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME (OMIM:607823)
Gene: SOX18
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
Gene: SOX18
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: WNT4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Congenital pulmonary airway malformation (HP:0010959)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Facial hirsutism (HP:0009937)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: High anterior hairline (HP:0009890)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Azoospermia (HP:0000027)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Cleft palate (HP:0000175)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Cleft palate (HP:0000175)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Abnormality of the ovary (HP:0000137)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Cleft lip (HP:0410030)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Renal agenesis (HP:0000104)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Renal agenesis (HP:0000104)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Bilateral lung agenesis (HP:0005944)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Adrenal gland agenesis (HP:0011743)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Increased circulating dehydroepiandrosterone-sulfate concentration (HP:0034589)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Frontal balding (HP:0002292)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Aplasia of the fallopian tube (HP:0032073)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Acne (HP:0001061)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Acne (HP:0001061)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Hirsutism (HP:0001007)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Hirsutism (HP:0001007)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Synophrys (HP:0000664)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Short stature (HP:0004322)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Short stature (HP:0004322)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Antenatal onset (HP:0030674)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Shield chest (HP:0000914)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Ovotestis (HP:0012861)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Abnormality of the adrenal glands (HP:0000834)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Abnormal external genitalia morphology (HP:0000811)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Aplasia of the vagina (HP:0003250)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Sex reversal (HP:0012245)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Growth delay (HP:0001510)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Obesity (HP:0001513)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Low-set ears (HP:0000369)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)