TaoMedAI/RareMedData huggingface dataset:
Gene: LYST
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Incoordination (HP:0002311)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Giant melanosomes in melanocytes (HP:0005592)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Spotty hyperpigmentation (HP:0005585)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Photophobia (HP:0000613)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Photophobia (HP:0000613)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Fever (HP:0001945)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Anemia (HP:0001903)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Anemia (HP:0001903)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Dementia (HP:0000726)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Periodontitis (HP:0000704)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Periodontitis (HP:0000704)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Large clumps of pigment irregularly distributed along hair shaft (HP:0004527)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Skin rash (HP:0000988)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Jaundice (HP:0000952)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Jaundice (HP:0000952)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Edema (HP:0000969)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Increased proportion of CD25+ mast cells (HP:0031408)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Gingivitis (HP:0000230)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Abnormal dense granules (HP:0012484)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Strabismus (HP:0000486)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Strabismus (HP:0000486)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Epistaxis (HP:0000421)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Epistaxis (HP:0000421)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Recurrent systemic pyogenic infections (HP:0005429)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: CHRM3
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Volvulus (HP:0002580)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Hydroureter (HP:0000072)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Hydroureter (HP:0000072)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Anal atresia (HP:0002023)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Anal atresia (HP:0002023)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Constipation (HP:0002019)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Prune belly (HP:0004392)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Xerostomia (HP:0000217)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Aplasia of the abdominal wall musculature (HP:0005199)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Aplasia of the abdominal wall musculature (HP:0005199)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRM3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PRUNE BELLY SYNDROME (OMIM:100100)
Gene: CHRM3
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Obrinsky syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal muscle deficiency syndrome; Prune belly syndrome (ORPHA:2970)
Gene: CHRNA1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNA1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNA1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Poor suck (HP:0002033)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Gene: CHRNA1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
Gene: CHRNA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)