TaoMedAI/RareMedData huggingface dataset:
Gene: ENPP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: ENPP1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Genu varum (HP:0002970)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Genu varum (HP:0002970)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Myocardial calcification (HP:0006690)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ARHR; Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
Gene: ENPP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Gene: ENPP1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Medial calcification of medium-sized arteries (HP:0012457)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 (OMIM:613312)
Gene: ENPP1
Phenotype: Cortical nephrocalcinosis (HP:0012409)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ENPP1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Idiopathic infantile arterial calcification; Generalized arterial calcification of infancy; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Gene: ENPP1
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Gene: ENPP1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ENPP1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC26A4
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Cochlear malformation (HP:0008554)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Lethargy (HP:0001254)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Ataxia (HP:0001251)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: SLC26A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Macroglossia (HP:0000158)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Coldness (HP:0033850)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Nephropathy (HP:0000112)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Constipation (HP:0002019)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: SLC26A4
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Vertigo (HP:0002321)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: SLC26A4
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Short stature (HP:0004322)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Short stature (HP:0004322)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Goiter (HP:0000853)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Goiter (HP:0000853)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: SLC26A4
Phenotype: Goiter (HP:0000853)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Jaundice (HP:0000952)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Facial edema (HP:0000282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: SLC26A4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Growth delay (HP:0001510)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Growth delay (HP:0001510)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Fatigue (HP:0012378)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: SLC26A4
Phenotype: Fatigue (HP:0012378)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Athyreosis (ORPHA:95713)
Gene: SLC26A4
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Incomplete partition of the cochlea type II (HP:0000376)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: SLC26A4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: SLC26A4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: SLC26A4
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: PDYN
Phenotype: CNS demyelination (HP:0007305)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Dysmetria (HP:0001310)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: PDYN
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SCA23; Spinocerebellar ataxia type 23 (ORPHA:101108)
Gene: PDYN
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Gene: SERPINF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINF1
Phenotype: Motor delay (HP:0001270)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VI (OMIM:613982)
Gene: SERPINF1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VI (OMIM:613982)
Gene: SERPINF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINF1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINF1
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINF1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VI (OMIM:613982)
Gene: SERPINF1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)