TaoMedAI/RareMedData huggingface dataset:
Gene: MSH4
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 20 (OMIM:619938)
Gene: MSH4
Phenotype: Female infertility (HP:0008222)
Associated disease: PREMATURE OVARIAN FAILURE 20 (OMIM:619938)
Gene: MSH4
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 20 (OMIM:619938)
Gene: MSH4
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 20 (OMIM:619938)
Gene: MSH4
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 20 (OMIM:619938)
Gene: MSH4
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Osteopenia (HP:0000938)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Microcephaly (HP:0000252)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Abnormal circulating luteinizing hormone concentration (HP:0030345)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH5
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MSH5
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 74 (OMIM:619937)
Gene: MSH5
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MSH5
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MSH5
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Gene: MSH5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Gene: MSH5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 74 (OMIM:619937)
Gene: MSH5
Phenotype: Amenorrhea (HP:0000141)
Associated disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Gene: MSH5
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MSH5
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Gene: MSH5
Phenotype: Female infertility (HP:0008222)
Associated disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Gene: MSH5
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 74 (OMIM:619937)
Gene: MSH5
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MSH5
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MSH5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Gene: MSH5
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 74 (OMIM:619937)
Gene: MSH5
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Gene: MSH5
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MSH5
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 74 (OMIM:619937)
Gene: MSN
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Gene: MSN
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Gene: MSN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Gene: MSN
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Gene: MSN
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Gene: MSN
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Gene: MSN
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 50 (OMIM:300988)
Gene: MSR1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: MSR1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: MSR1
Phenotype: Barrett esophagus (HP:0100580)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: MSR1
Phenotype: Esophageal ulceration (HP:0004791)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: MSR1
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: MST1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Palmar telangiectasia (HP:0100869)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Neoplasm of the gallbladder (HP:0100575)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Adenocarcinoma of the large intestine (HP:0040275)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Polyclonal elevation of IgM (HP:0003459)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Histiocytosis (HP:0100727)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Elevated alkaline phosphatase of hepatic origin (HP:0010638)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Fever (HP:0001945)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Abnormal large intestine physiology (HP:0012700)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Depression (HP:0000716)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Ascites (HP:0001541)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Dilated superficial abdominal veins (HP:0030168)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Abnormal biliary tract morphology (HP:0012440)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Recurrent systemic pyogenic infections (HP:0005429)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Weight loss (HP:0001824)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Uveitis (HP:0000554)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Spider hemangioma (HP:0012522)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1
Phenotype: Abnormal eosinophil morphology (HP:0001879)
Associated disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Gene: MST1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3 (OMIM:617075)
Gene: MST1R
Phenotype: Neoplasia of the nasopharynx (HP:0100630)
Associated disease: NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3 (OMIM:617075)
Gene: MSX1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OROFACIAL CLEFT 5 (OMIM:608874)
Gene: MSX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOOTH AGENESIS, SELECTIVE, 1 (OMIM:106600)
Gene: MSX1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIAL CLEFT 5 (OMIM:608874)
Gene: MSX1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Microdontia of primary teeth (HP:0006347)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Supernumerary maxillary incisor (HP:0006332)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Fine hair (HP:0002213)
Associated disease: WITKOP SYNDROME (OMIM:189500)
Gene: MSX1
Phenotype: Fine hair (HP:0002213)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Ridged fingernail (HP:0008402)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: MSX1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: MSX1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: MSX1
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Conical tooth (HP:0000698)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Witkop syndrome; Tooth and nail syndrome; Hypodontia-nail dysgenesis syndrome; Hypodontia-dysplasia of nails syndrome (ORPHA:2228)
Gene: MSX1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: MSX1
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)