TaoMedAI/RareMedData huggingface dataset:
Gene: DNAJC5
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: DNAJC5
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Gene: COASY
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Dysarthria (HP:0001260)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Bradykinesia (HP:0002067)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Abnormal postural reflex (HP:0033329)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Abnormal caudate nucleus morphology (HP:0002339)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Third trimester onset (HP:0034197)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Second trimester onset (HP:0034198)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Motor tics (HP:0100034)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Depression (HP:0000716)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: NBIA6; CoPAN; COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Gene: COASY
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Joint contracture (HP:0034392)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Death in infancy (HP:0001522)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Sloping forehead (HP:0000340)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Micrognathia (HP:0000347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: COASY
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Gene: COASY
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Gene: SLC19A3
Phenotype: Poor speech (HP:0002465)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Hypertonia (HP:0001276)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Confusion (HP:0001289)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Confusion (HP:0001289)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Lethargy (HP:0001254)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Seizure (HP:0001250)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Coma (HP:0001259)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Inability to walk (HP:0002540)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Dystonia (HP:0001332)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Dystonia (HP:0001332)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Vomiting (HP:0002013)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Rigidity (HP:0002063)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Chorea (HP:0002072)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Babinski sign (HP:0003487)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Opisthotonus (HP:0002179)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Tetraparesis (HP:0002273)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Facial palsy (HP:0010628)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Paraparesis (HP:0002385)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Frequent falls (HP:0002359)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Developmental regression (HP:0002376)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Loss of speech (HP:0002371)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Action tremor (HP:0002345)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Drowsiness (HP:0002329)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Mutism (HP:0002300)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Fever (HP:0001945)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Irritability (HP:0000737)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Irritability (HP:0000737)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Restlessness (HP:0000711)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Young adult onset (HP:0011462)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Truncal titubation (HP:0030147)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Gene: SLC19A3
Phenotype: Ptosis (HP:0000508)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: SLC19A3
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Gene: TSGA10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 26 (OMIM:617961)
Gene: TSGA10
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 26 (OMIM:617961)
Gene: TSGA10
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: SPERMATOGENIC FAILURE 26 (OMIM:617961)
Gene: TSGA10
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 26 (OMIM:617961)
Gene: IQCN
Phenotype: Repeated implantation failure (HP:0033712)
Associated disease: SPERMATOGENIC FAILURE 78 (OMIM:620170)
Gene: IQCN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 78 (OMIM:620170)
Gene: IQCN
Phenotype: Microcephalic sperm head (HP:0032561)
Associated disease: SPERMATOGENIC FAILURE 78 (OMIM:620170)
Gene: IQCN
Phenotype: Tapered sperm head (HP:0032562)
Associated disease: SPERMATOGENIC FAILURE 78 (OMIM:620170)
Gene: IQCN
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 78 (OMIM:620170)
Gene: IQCN
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 78 (OMIM:620170)
Gene: SLC44A4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 72 (OMIM:617606)
Gene: SLC44A4
Phenotype: Progressive (HP:0003676)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 72 (OMIM:617606)
Gene: SLC44A4
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 72 (OMIM:617606)
Gene: SLC44A4
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 72 (OMIM:617606)
Gene: SLC44A4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 72 (OMIM:617606)
Gene: MPIG6B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Gene: MPIG6B
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Gene: MPIG6B
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Gene: MPIG6B
Phenotype: Anemia (HP:0001903)
Associated disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Gene: MPIG6B
Phenotype: Childhood onset (HP:0011463)
Associated disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Gene: MPIG6B
Phenotype: Splenomegaly (HP:0001744)
Associated disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Gene: MPIG6B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Gene: TSEN2
Phenotype: Extrapyramidal dyskinesia (HP:0007308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Gene: TSEN2
Phenotype: Motor delay (HP:0001270)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN2
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)