TaoMedAI/RareMedData huggingface dataset:
Gene: CSF1R
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Central nervous system axonal spheroid (HP:0034381)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Epicanthus (HP:0000286)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Kyphosis (HP:0002808)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Bulbous nose (HP:0000414)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Late young adult onset (HP:0025710)
Associated disease: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS (OMIM:221820)
Gene: CSF1R
Phenotype: Craniofacial osteosclerosis (HP:0005464)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Long eyelashes (HP:0000527)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF1R
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Visual impairment (HP:0000505)
Associated disease: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS (OMIM:618476)
Gene: CSF1R
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSF1R
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSF2RA
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Abnormal circulating protein concentration (HP:0010876)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Elevated circulating carcinoembryonic antigen concentration (HP:0031029)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Crazy paving pattern (HP:0025391)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Tachypnea (HP:0002789)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Tachypnea (HP:0002789)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Acute infectious pneumonia (HP:0011949)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Foam cells (HP:0003651)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Cough (HP:0012735)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Crackles (HP:0030830)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Gene: CSF2RA
Phenotype: Tachycardia (HP:0001649)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RA
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Abnormal circulating protein concentration (HP:0010876)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Elevated circulating carcinoembryonic antigen concentration (HP:0031029)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Crazy paving pattern (HP:0025391)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Tachypnea (HP:0002789)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Dyspnea (HP:0002094)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Acute infectious pneumonia (HP:0011949)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Anti-granulocyte-macrophage colony stimulating factor antibody positivity (HP:0020050)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Foam cells (HP:0003651)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Cough (HP:0012735)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Interlobular septal thickening (HP:0030879)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Crackles (HP:0030830)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Gene: CSF2RB
Phenotype: Tachycardia (HP:0001649)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF2RB
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Congenital pulmonary alveolar proteinosis; Hereditary pulmonary alveolar proteinosis; Congenital PAP (ORPHA:264675)
Gene: CSF3R
Phenotype: Bone marrow maturation arrest (HP:0033606)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Gene: CSF3R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Gene: CSF3R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPHILIA, HEREDITARY (OMIM:162830)
Gene: CSF3R
Phenotype: Granulocytic hyperplasia (HP:0012138)
Associated disease: NEUTROPHILIA, HEREDITARY (OMIM:162830)
Gene: CSF3R
Phenotype: Recurrent infections (HP:0002719)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Gene: CSF3R
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: NEUTROPHILIA, HEREDITARY (OMIM:162830)
Gene: CSF3R
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Gene: CSF3R
Phenotype: Elevated leukocyte alkaline phosphatase (HP:0008318)
Associated disease: NEUTROPHILIA, HEREDITARY (OMIM:162830)
Gene: CSF3R
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Gene: CSF3R
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Gene: CSF3R
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: NEUTROPHILIA, HEREDITARY (OMIM:162830)
Gene: CSF3R
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEUTROPHILIA, HEREDITARY (OMIM:162830)
Gene: CSF3R
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Gene: CSNK1D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (OMIM:615224)
Gene: CSNK1D
Phenotype: Migraine without aura (HP:0002083)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (OMIM:615224)
Gene: CSNK1D
Phenotype: Migraine (HP:0002076)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (OMIM:615224)
Gene: CSNK1D
Phenotype: Migraine with aura (HP:0002077)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (OMIM:615224)
Gene: CSNK1D
Phenotype: Early chronotype (HP:0031873)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (OMIM:615224)
Gene: CSNK1D
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (OMIM:615224)
Gene: CSNK2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Ataxia (HP:0001251)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Absent speech (HP:0001344)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Pachygyria (HP:0001302)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Constipation (HP:0002019)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Broad hallux (HP:0010055)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Synophrys (HP:0000664)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: High palate (HP:0000218)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Cupped ear (HP:0000378)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Ptosis (HP:0000508)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2A1
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Gene: CSNK2B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Open mouth (HP:0000194)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Protruding tongue (HP:0010808)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Gene: CSNK2B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)