TaoMedAI/RareMedData huggingface dataset:
Gene: NPRL3
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 (OMIM:617118)
Gene: NPRL3
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Deja vu aura (HP:0012005)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 (OMIM:617118)
Gene: NPRL3
Phenotype: Flushing (HP:0031284)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 (OMIM:617118)
Gene: NPRL3
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Focal cortical dysplasia type IIa (HP:0032052)
Associated disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 (OMIM:617118)
Gene: NPRL3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Hemimegalencephaly (HP:0007206)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Pallor (HP:0000980)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: NPRL3
Phenotype: Pain (HP:0012531)
Associated disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Gene: GAN
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Motor delay (HP:0001270)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Areflexia (HP:0001284)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Areflexia (HP:0001284)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Dysarthria (HP:0001260)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Spasticity (HP:0001257)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Falls (HP:0002527)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Scoliosis (HP:0002650)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Scoliosis (HP:0002650)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Vomiting (HP:0002013)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Steppage gait (HP:0003376)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Babinski sign (HP:0003487)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Diffuse axonal swelling (HP:0003405)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Infantile onset (HP:0003593)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Woolly hair (HP:0002224)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Pili canaliculi (HP:0002235)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Curly hair (HP:0002212)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Facial palsy (HP:0010628)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Facial palsy (HP:0010628)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Slowly progressive (HP:0003677)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Unsteady gait (HP:0002317)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Nystagmus (HP:0000639)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Photophobia (HP:0000613)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Genu valgum (HP:0002857)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Strabismus (HP:0000486)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Pes planus (HP:0001763)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Pes cavus (HP:0001761)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: GAN
Phenotype: Pes cavus (HP:0001761)
Associated disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Gene: GAN
Phenotype: Abnormal pituitary gland morphology (HP:0012503)
Associated disease: GAN; Giant axonal neuropathy (ORPHA:643)
Gene: TAF15
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CHONDROSARCOMA, EXTRASKELETAL MYXOID (OMIM:612237)
Gene: TAF15
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Chondrosarcoma (HP:0006765)
Associated disease: CHONDROSARCOMA, EXTRASKELETAL MYXOID (OMIM:612237)
Gene: TAF15
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TAF15
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CLPP
Phenotype: Seizure (HP:0001250)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Streak ovary (HP:0010464)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Short stature (HP:0004322)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Microcephaly (HP:0000252)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: CLPP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PERRAULT SYNDROME 3 (OMIM:614129)
Gene: MKKS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Syndactyly (HP:0001159)
Associated disease: MCKUSICK-KAUFMAN SYNDROME (OMIM:236700)
Gene: MKKS
Phenotype: Syndactyly (HP:0001159)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MKKS
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 6 (OMIM:605231)
Gene: MKKS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Kaufman-Mckusick syndrome; Hydrometrocolpos-postaxial polydactyly syndrome; McKusick-Kaufman syndrome (ORPHA:2473)
Gene: MKKS
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: MKKS
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)