TaoMedAI/RareMedData huggingface dataset:
Gene: IFIH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Hypertonia (HP:0001276)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Atrophic gastritis (HP:0002582)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Seizure (HP:0001250)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Seizure (HP:0001250)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Hematochezia (HP:0002573)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Expanded phalanges with widened medullary cavities (HP:0006112)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Arthritis (HP:0001369)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Arthritis (HP:0001369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Micropenis (HP:0000054)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Expanded metacarpals with widened medullary cavities (HP:0006232)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Dystonia (HP:0001332)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Dystonia (HP:0001332)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Absent speech (HP:0001344)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Coxa valga (HP:0002673)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Tremor (HP:0001337)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Vasculitis (HP:0002633)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Hepatitis (HP:0012115)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypoplasia of the tooth germ (HP:0006353)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Short dental root (HP:0006336)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Diarrhea (HP:0002014)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Tendon rupture (HP:0100550)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Pneumonia (HP:0002090)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Expanded metatarsals with widened medullary cavities (HP:0008102)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Recurrent viral upper respiratory tract infections (HP:0033166)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Recurrent viral pneumonia (HP:0033214)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Hematemesis (HP:0002248)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Increased CSF interferon alpha (HP:0009709)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Chilblains (HP:0009710)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Chilblains (HP:0009710)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Chronic CSF lymphocytosis (HP:0009704)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Neonatal alloimmune thrombocytopenia (HP:0004809)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Extrapyramidal muscular rigidity (HP:0007076)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Developmental regression (HP:0002376)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Loss of speech (HP:0002371)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Urticaria (HP:0001025)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Headache (HP:0002315)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Myositis (HP:0100614)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Decreased circulating IgG3 concentration (HP:0032137)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Joint subluxation (HP:0032153)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Chronic lymphatic leukemia (HP:0005550)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Nystagmus (HP:0000639)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Fever (HP:0001945)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 95 (OMIM:619773)
Gene: IFIH1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: IFIH1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Anemia (HP:0001903)
Associated disease: AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
Gene: IFIH1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Carious teeth (HP:0000670)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)
Gene: IFIH1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFIH1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFIH1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SINGLETON-MERTEN SYNDROME 1 (OMIM:182250)