TaoMedAI/RareMedData huggingface dataset:
Gene: FAM161A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 28 (OMIM:606068)
Gene: FAM161A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 28 (OMIM:606068)
Gene: FAM161A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 28 (OMIM:606068)
Gene: FAM161A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FAM161A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 28 (OMIM:606068)
Gene: FAM161A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM161A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPIA 21, AUTOSOMAL DOMINANT (OMIM:614167)
Gene: ZNF644
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPIA 21, AUTOSOMAL DOMINANT (OMIM:614167)
Gene: ZNF644
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: High myopia (HP:0011003)
Associated disease: MYOPIA 21, AUTOSOMAL DOMINANT (OMIM:614167)
Gene: ZNF644
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ZNF644
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KAT8
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Seizure (HP:0001250)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Hypotelorism (HP:0000601)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Autistic behavior (HP:0000729)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Epicanthus (HP:0000286)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Low-set ears (HP:0000369)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Overlapping toe (HP:0001845)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Telecanthus (HP:0000506)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Esotropia (HP:0000565)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: KAT8
Phenotype: Hypermetropia (HP:0000540)
Associated disease: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME (OMIM:618974)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: Encephalopathy (HP:0001298)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: Hypotonia (HP:0001252)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
Phenotype: Spasticity (HP:0001257)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
Phenotype: Death in childhood (HP:0003819)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
Phenotype: Dystonia (HP:0001332)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: Chilblains (HP:0009710)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
Phenotype: Progressive (HP:0003676)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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: RNASEH2C
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)