TaoMedAI/RareMedData huggingface dataset:
Gene: GNPTAB
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Hip subluxation (HP:0030043)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Growth delay (HP:0001510)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Flat face (HP:0012368)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Otitis media (HP:0000388)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Restricted chest movement (HP:0006596)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hoarse voice (HP:0001609)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hoarse voice (HP:0001609)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Hoarse voice (HP:0001609)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Low-set ears (HP:0000369)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Long philtrum (HP:0000343)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: High forehead (HP:0000348)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Micrognathia (HP:0000347)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Heart murmur (HP:0030148)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Abnormal atrioventricular valve physiology (HP:0031650)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Hyperopic astigmatism (HP:0000484)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Megalocornea (HP:0000485)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Retinopathy (HP:0000488)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Short neck (HP:0000470)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Proptosis (HP:0000520)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Proptosis (HP:0000520)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Weight loss (HP:0001824)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Shallow orbits (HP:0000586)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: BRCC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Azoospermia (HP:0000027)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Short stature (HP:0004322)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Hypertension (HP:0000822)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Retrognathia (HP:0000278)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Long philtrum (HP:0000343)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Congenital ptosis (HP:0007970)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Flared nostrils (HP:0000454)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Wide nose (HP:0000445)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: BRCC3
Phenotype: Cataract (HP:0000518)
Associated disease: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism; Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
Gene: TMEM43
Phenotype: Myotonia (HP:0002486)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Hypotonia (HP:0001252)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Waddling gait (HP:0002515)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Joint stiffness (HP:0001387)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 (OMIM:619832)
Gene: TMEM43
Phenotype: Scoliosis (HP:0002650)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)