TaoMedAI/RareMedData huggingface dataset:
Gene: ADAR
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: ADAR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
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: ADAR
Phenotype: Dystonia (HP:0001332)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Dystonia (HP:0001332)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
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: ADAR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Tremor (HP:0001337)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSCHROMATOSIS SYMMETRICA HEREDITARIA (OMIM:127400)
Gene: ADAR
Phenotype: Myoclonus (HP:0001336)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: Dyschromatosis symmetrica hereditaria; Acropigmentation of Dohi (ORPHA:41)
Gene: ADAR
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: ADAR
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Floppy infant (HP:0008947)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
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: ADAR
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: ADAR
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Dysphagia (HP:0002015)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Rigidity (HP:0002063)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Rigidity (HP:0002063)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
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: ADAR
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: ADAR
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: ADAR
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: ADAR
Phenotype: Babinski sign (HP:0003487)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
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: ADAR
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: ADAR
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: ADAR
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
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: ADAR
Phenotype: Increased circulating Interferon-alpha concentration (HP:0034513)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Infantile onset (HP:0003593)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSCHROMATOSIS SYMMETRICA HEREDITARIA (OMIM:127400)
Gene: ADAR
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
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: ADAR
Phenotype: Increased CSF interferon alpha (HP:0009709)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
Phenotype: Chilblains (HP:0009710)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
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: ADAR
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: ADAR
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: ADAR
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Frequent falls (HP:0002359)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Developmental regression (HP:0002376)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
Phenotype: Developmental regression (HP:0002376)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Loss of speech (HP:0002371)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
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: ADAR
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: ADAR
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: ADAR
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: ADAR
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: ADAR
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: ADAR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
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: ADAR
Phenotype: Nystagmus (HP:0000639)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
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: ADAR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
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: ADAR
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: ADAR
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Short stature (HP:0004322)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Macule (HP:0012733)
Associated disease: Dyschromatosis symmetrica hereditaria; Acropigmentation of Dohi (ORPHA:41)
Gene: ADAR
Phenotype: Irritability (HP:0000737)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Irritability (HP:0000737)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Childhood onset (HP:0011463)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Macular hyperpigmentation (HP:0011509)
Associated disease: Dyschromatosis symmetrica hereditaria; Acropigmentation of Dohi (ORPHA:41)
Gene: ADAR
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Dry skin (HP:0000958)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Microcephaly (HP:0000252)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Enchondroma (HP:0030038)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: ADAR
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Low-set ears (HP:0000369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Panniculitis (HP:0012490)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Macular hypopigmentation (HP:0007988)
Associated disease: Dyschromatosis symmetrica hereditaria; Acropigmentation of Dohi (ORPHA:41)
Gene: ADAR
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)