TaoMedAI/RareMedData huggingface dataset:
Gene: HACD1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Gowers sign (HP:0003391)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Abnormal activity of mitochondrial respiratory chain (HP:0011922)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Headache (HP:0002315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Dental crowding (HP:0000678)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Hip contracture (HP:0003273)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Long face (HP:0000276)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: High palate (HP:0000218)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Fatigue (HP:0012378)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Weak cry (HP:0001612)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Breech presentation (HP:0001623)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Gene: HACD1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Hypercapnia (HP:0012416)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: HACD1
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: ZMYM3
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Volvulus (HP:0002580)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Right aortic arch (HP:0012020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Hypospadias (HP:0000047)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Renal cyst (HP:0000107)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Constipation (HP:0002019)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Heat intolerance (HP:0002046)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Mild short stature (HP:0003502)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Enuresis (HP:0000805)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Madelung deformity (HP:0003067)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Kyphosis (HP:0002808)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Fatigue (HP:0012378)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Cupped ear (HP:0000378)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Retinopathy (HP:0000488)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Pain (HP:0012531)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: ZMYM3
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 (OMIM:301111)
Gene: BMP15
Phenotype: Arachnodactyly (HP:0001166)
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: BMP15
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
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: BMP15
Phenotype: Ataxia (HP:0001251)
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: BMP15
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
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: BMP15
Phenotype: Ambiguous genitalia (HP:0000062)
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: BMP15
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
Phenotype: Decreased fertility (HP:0000144)
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: BMP15
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: BMP15
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: BMP15
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
Phenotype: Streak ovary (HP:0010464)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
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: BMP15
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
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: BMP15
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: BMP15
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: BMP15
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: BMP15
Phenotype: Hirsutism (HP:0001007)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
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: BMP15
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: BMP15
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: BMP15
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: BMP15
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
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: BMP15
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
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: BMP15
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: BMP15
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
Phenotype: Delayed puberty (HP:0000823)
Associated disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Gene: BMP15
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: BMP15
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: BMP15
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: BMP15
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: BMP15
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: LGI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)