TaoMedAI/RareMedData huggingface dataset:
Gene: KLLN
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Trichilemmoma (HP:0012844)
Associated disease: COWDEN SYNDROME 4 (OMIM:615107)
Gene: KLLN
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COWDEN SYNDROME 4 (OMIM:615107)
Gene: KLLN
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: RNU7-1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Increased blood pressure (HP:0032263)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
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: RNU7-1
Phenotype: Hypertonia (HP:0001276)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Seizure (HP:0001250)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Spasticity (HP:0001257)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Proteinuria (HP:0000093)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Micropenis (HP:0000054)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Dystonia (HP:0001332)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Absent speech (HP:0001344)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Scoliosis (HP:0002650)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Chilblains (HP:0009710)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Nystagmus (HP:0000639)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Anemia (HP:0001903)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Diffuse leukoencephalopathy (HP:0006994)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Irritability (HP:0000737)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Hypertension (HP:0000822)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Dry skin (HP:0000958)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Edema (HP:0000969)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
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: RNU7-1
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: RNU7-1
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: RNU7-1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)