TaoMedAI/RareMedData huggingface dataset:
Gene: SMARCA4
Phenotype: Wide nose (HP:0000445)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMARCA4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Ptosis (HP:0000508)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Visual impairment (HP:0000505)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Gene: SMARCA4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCA4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCA4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCA4
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Central diaphragmatic hernia (HP:0025195)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Malignant neoplasm of the central nervous system (HP:0100836)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Seizure (HP:0001250)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Seizure (HP:0001250)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Ataxia (HP:0001251)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Lumbosacral hemangioma (HP:0410275)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SCHWANNOMATOSIS 1 (OMIM:162091)
Gene: SMARCB1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Lipoma (HP:0012032)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHWANNOMATOSIS 1 (OMIM:162091)
Gene: SMARCB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (OMIM:609322)
Gene: SMARCB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Macroglossia (HP:0000158)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Wide mouth (HP:0000154)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: SCHWANNOMATOSIS 1 (OMIM:162091)
Gene: SMARCB1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Poor suck (HP:0002033)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Migraine (HP:0002076)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Vestibular schwannoma (HP:0009588)
Associated disease: SCHWANNOMATOSIS 1 (OMIM:162091)
Gene: SMARCB1
Phenotype: Bilateral vestibular schwannoma (HP:0009589)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Peripheral schwannoma (HP:0009593)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Peripheral schwannoma (HP:0009593)
Associated disease: SCHWANNOMATOSIS 1 (OMIM:162091)
Gene: SMARCB1
Phenotype: Adult onset (HP:0003581)
Associated disease: SCHWANNOMATOSIS 1 (OMIM:162091)
Gene: SMARCB1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Hirsutism (HP:0001007)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Short distal phalanx of the 5th finger (HP:0004227)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: SMARCB1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Gene: SMARCB1
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCB1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Gene: SMARCB1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCB1
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMARCB1
Phenotype: Schwannoma (HP:0100008)
Associated disease: Full SWN; Full NF3; Full neurofibromatosis type 3; Nonmosaic schwannomatosis; Full schwannomatosis; Neurilemmomatosis (ORPHA:93921)
Gene: SMARCB1
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)