TaoMedAI/RareMedData huggingface dataset:
Gene: BMPER
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Short nose (HP:0003196)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Missing ribs (HP:0000921)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Missing ribs (HP:0000921)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Narrow pelvis bone (HP:0003275)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Short thorax (HP:0010306)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Epicanthus (HP:0000286)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Large fontanelles (HP:0000239)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Low-set ears (HP:0000369)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Micrognathia (HP:0000347)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Absent in utero rib ossification (HP:0006615)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Short neck (HP:0000470)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Short neck (HP:0000470)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Webbed neck (HP:0000465)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Hammertoe (HP:0001765)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Absent fetal nasal bone (HP:0025706)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Unossified sacrum (HP:0030290)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC30A8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC30A8
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC30A8
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC30A8
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: SLC30A8
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: KCNV2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Astigmatism (HP:0000483)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Strabismus (HP:0000486)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: KCNV2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNV2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINAL CONE DYSTROPHY 3B (OMIM:610356)
Gene: GLIS3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Cholestasis (HP:0001396)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Hepatitis (HP:0012115)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Renal cyst (HP:0000107)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Portal hypertension (HP:0001409)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Osteopenia (HP:0000938)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Low-set ears (HP:0000369)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Splenic cyst (HP:0030423)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: GLIS3
Phenotype: Buphthalmos (HP:0000557)
Associated disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Gene: ARX
Phenotype: Tapered finger (HP:0001182)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Limb dystonia (HP:0002451)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Limb dystonia (HP:0002451)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Tetraplegia (HP:0002445)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Duane anomaly (HP:0009921)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Hypertonia (HP:0001276)
Associated disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Gene: ARX
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Hypotonia (HP:0001252)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Hypotonia (HP:0001252)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Gene: ARX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)