TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFAF3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (OMIM:618240)
Gene: ATL3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Impaired ability to dress oneself (HP:0031060)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Hypohidrosis or hyperhidrosis (HP:0007550)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Steppage gait (HP:0003376)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Penetrating foot ulcers (HP:0001026)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Trophic changes related to pain (HP:0010834)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Limb pain (HP:0009763)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Metatarsal fracture (HP:0041162)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Cough (HP:0012735)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: EMG: slow motor conduction (HP:0100287)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: ATL3
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL3
Phenotype: Hallux valgus (HP:0001822)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Gene: GEMIN5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Areflexia (HP:0001284)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: GEMIN5
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION (OMIM:619333)
Gene: PTPN23
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Encephalopathy (HP:0001298)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Abnormal visual fixation (HP:0025404)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Poor suck (HP:0002033)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: PTPN23
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY (OMIM:618890)
Gene: SAMHD1
Phenotype: Deep white matter hypodensities (HP:0007321)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Spasticity (HP:0001257)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHILBLAIN LUPUS 2 (OMIM:614415)
Gene: SAMHD1
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: SAMHD1
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: SAMHD1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
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: SAMHD1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
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: SAMHD1
Phenotype: Papillary dermal edema (HP:6000263)
Associated disease: CHILBLAIN LUPUS 2 (OMIM:614415)
Gene: SAMHD1
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: SAMHD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHILBLAIN LUPUS 2 (OMIM:614415)
Gene: SAMHD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
Phenotype: Chilblains (HP:0009710)
Associated disease: CHILBLAIN LUPUS 2 (OMIM:614415)
Gene: SAMHD1
Phenotype: Chilblains (HP:0009710)
Associated disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Gene: SAMHD1
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: SAMHD1
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: SAMHD1
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)