TaoMedAI/RareMedData huggingface dataset:
Gene: NF2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Postural instability (HP:0002172)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Vestibular schwannoma (HP:0009588)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Bilateral vestibular schwannoma (HP:0009589)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Bilateral vestibular schwannoma (HP:0009589)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Bilateral vestibular schwannoma (HP:0009589)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Unilateral vestibular schwannoma (HP:0009590)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Peripheral schwannoma (HP:0009593)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Peripheral schwannoma (HP:0009593)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Peripheral schwannoma (HP:0009593)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Adult onset (HP:0003581)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: NF2
Phenotype: Glioma (HP:0009733)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Lisch nodules (HP:0009737)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Fasciculations (HP:0002380)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Aphasia (HP:0002381)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Neurofibroma (HP:0001067)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Vertigo (HP:0002321)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Headache (HP:0002315)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Mononeuropathy (HP:0009831)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Diplopia (HP:0000651)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Diplopia (HP:0000651)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Blindness (HP:0000618)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Schwannoma (HP:0100008)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Personality changes (HP:0000751)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Cortical cataract (HP:0100019)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Cortical cataract (HP:0100019)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Axillary freckling (HP:0000997)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Spinal cord tumor (HP:0010302)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Spinal cord tumor (HP:0010302)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Ependymoma (HP:0002888)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Ependymoma (HP:0002888)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Meningioma (HP:0002858)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Meningioma (HP:0002858)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Meningioma (HP:0002858)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: NF2
Phenotype: Meningioma (HP:0002858)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Tinnitus (HP:0000360)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Tinnitus (HP:0000360)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Tinnitus (HP:0000360)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Weak voice (HP:0001621)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Juvenile posterior subcapsular lenticular opacities (HP:0007935)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Neuroma (HP:0030430)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Cataract (HP:0000518)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NF2
Phenotype: Cataract (HP:0000518)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: NF2
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Visual loss (HP:0000572)
Associated disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Gene: NF2
Phenotype: Visual loss (HP:0000572)
Associated disease: Nonmosaic NF2-related schwannomatosis; Full neurofibromatosis type 2; Nonmosaic neurofibromatosis type 2; Full NF2; Full NF2-related schwannomatosis (ORPHA:637)
Gene: NF2
Phenotype: Pain (HP:0012531)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: NFATC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Childhood onset (HP:0011463)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Hip contracture (HP:0003273)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Burkitt lymphoma (HP:0030080)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFATC2
Phenotype: Osteochondroma (HP:0030431)
Associated disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Gene: NFIA
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Sporadic (HP:0003745)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Seizure (HP:0001250)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Seizure (HP:0001250)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Hypotonia (HP:0001252)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Narrow mouth (HP:0000160)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Del(1)(p31p32); Monosomy 1p31p32; 1p31p32 microdeletion syndrome (ORPHA:401986)
Gene: NFIA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Gene: NFIA
Phenotype: Syringomyelia (HP:0003396)
Associated disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)