TaoMedAI/RareMedData huggingface dataset:
Gene: NTRK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)
Gene: NTRK1
Phenotype: Nail-biting (HP:0012170)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Dysphagia (HP:0002015)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Fasciitis (HP:0100537)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Hypothermia (HP:0002045)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Abnormality of lower limb joint (HP:0100491)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Impulsivity (HP:0100710)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Abnormal lumbar spine morphology (HP:0100712)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Lichenification (HP:0100725)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Lichenification (HP:0100725)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Anemia (HP:0001903)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Short attention span (HP:0000736)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Emotional lability (HP:0000712)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Tooth abscess (HP:0030757)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Septic arthritis (HP:0003095)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Trophic limb changes (HP:0003091)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Tongue pain (HP:0030811)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Dry skin (HP:0000958)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated disease: THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)
Gene: NTRK1
Phenotype: Growth delay (HP:0001510)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Abscess (HP:0025615)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Abnormality of humoral immunity (HP:0005368)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Postural hypotension with compensatory tachycardia (HP:0005307)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Aplasia of the sweat glands (HP:0011136)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Keratitis (HP:0000491)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Congenital insensitivity to pain and thermal analgesia; CIP; Hereditary sensory and autonomic neuropathy type 5; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Gene: NTRK1
Phenotype: Corneal scarring (HP:0000559)
Associated disease: HSAN4; Congenital insensitivity to pain with anhidrosis; Hereditary sensory and autonomic neuropathy type 4; CIPA; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Gene: NTRK1
Phenotype: Corneal scarring (HP:0000559)
Associated disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Gene: NTRK2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Seizure (HP:0001250)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Hypotonia (HP:0001252)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Polyphagia (HP:0002591)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: NTRK2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58 (OMIM:617830)
Gene: NTRK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY (OMIM:613886)
Gene: NTRK2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: NTRK2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NTRK2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)