TaoMedAI/RareMedData huggingface dataset:
Gene: SMN1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Death in childhood (HP:0003819)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Pelvic girdle amyotrophy (HP:0008946)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: Progressive (HP:0003676)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN1
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Quadriceps muscle atrophy (HP:0009050)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE IV (OMIM:271150)
Gene: SMN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE II (OMIM:253550)
Gene: SMN1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE I (OMIM:253300)
Gene: SMN1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Limb fasciculations (HP:0007289)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Pelvic girdle amyotrophy (HP:0008946)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Progressive (HP:0003676)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMN2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SPINAL MUSCULAR ATROPHY, TYPE III (OMIM:253400)
Gene: SMO
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Occipital meningocele (HP:0002436)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: High anterior hairline (HP:0009890)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Micropenis (HP:0000054)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Megalencephaly (HP:0001355)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Gene: SMO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Wormian bones (HP:0002645)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Lipomyelomeningocele (HP:0025480)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Cleft palate (HP:0000175)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Microglossia (HP:0000171)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Triphalangeal hallux (HP:0032612)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Anal stenosis (HP:0002025)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormality of thumb phalanx (HP:0009602)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Congenital onset (HP:0003577)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Congenital onset (HP:0003577)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Glioma (HP:0009733)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Hirsutism (HP:0001007)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Focal emotional seizure with crying (HP:0010820)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Nevus sebaceous (HP:0010815)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: 3-4 toe syndactyly (HP:0009779)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Amblyopia (HP:0000646)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Unicoronal synostosis (HP:0011315)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Broad thumb (HP:0011304)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Broad thumb (HP:0011304)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Short stature (HP:0004322)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)