TaoMedAI/RareMedData huggingface dataset:
Gene: CIC
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Myoclonus (HP:0001336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Chorea (HP:0002072)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Skin rash (HP:0000988)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Slender build (HP:0001533)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Heart murmur (HP:0030148)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Perseverative thought (HP:0030223)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: CIC
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Gene: NCDN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: NCDN
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS (OMIM:619373)
Gene: CLCC1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Photoreceptor layer loss on macular OCT (HP:0030609)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLCC1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 32 (OMIM:609913)
Gene: CLCC1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPK8IP3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Slender finger (HP:0001238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Small hand (HP:0200055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Hypodontia (HP:0000668)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Emotional lability (HP:0000712)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Short 5th finger (HP:0009237)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Pes valgus (HP:0008081)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Encopresis (HP:0040183)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Macrodontia (HP:0001572)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Genu valgum (HP:0002857)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Obesity (HP:0001513)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Delayed myelination (HP:0012448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Short foot (HP:0001773)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: MAPK8IP3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Gene: NUP205
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 13 (OMIM:616893)
Gene: NUP205
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 13 (OMIM:616893)
Gene: NUP205
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 13 (OMIM:616893)
Gene: NUP205
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP205
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)