TaoMedAI/RareMedData huggingface dataset:
Gene: ADD3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Convergence-retraction nystagmus (HP:0025711)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Exotropia (HP:0000577)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADH1B
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ALCOHOL DEPENDENCE (OMIM:103780)
Gene: ADH1B
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: ALCOHOL DEPENDENCE (OMIM:103780)
Gene: ADH1C
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ALCOHOL DEPENDENCE (OMIM:103780)
Gene: ADH1C
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: ALCOHOL DEPENDENCE (OMIM:103780)
Gene: ADH1C
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH1C
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ADH5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Long thumb (HP:0032524)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Anemia (HP:0001903)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Short stature (HP:0004322)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Motor regression (HP:0033044)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Microcephaly (HP:0000252)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Telecanthus (HP:0000506)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADH5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Gene: ADK
Phenotype: Poor speech (HP:0002465)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Increased CSF methionine concentration (HP:0500210)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Cholestasis (HP:0001396)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Progressive (HP:0003676)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Elevated circulating S-adenosyl-L-methionine concentration (HP:0034731)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Elevated circulating S-adenosyl-L-homocysteine concentration (HP:0034730)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADK
Phenotype: Narrow foot (HP:0001786)
Associated disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Gene: ADORA2A
Phenotype: Increased circulating procalcitonin concentration (HP:0032308)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Seizure cluster (HP:0033349)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Abnormal metabolic brain imaging by MRS (HP:0012705)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Takotsubo cardiomyopathy (HP:0011665)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Uncontrolled eye movements (HP:0007738)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Seizure precipitated by febrile infection (HP:0032894)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADORA2A
Phenotype: Severe viral infection (HP:0031691)
Associated disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; Acute infantile encephalopathy predominantly affecting the frontal lobes; AESD; AIEF (ORPHA:363549)
Gene: ADRA2A
Phenotype: Dorsocervical fat pad (HP:0025383)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Gout (HP:0001997)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2A
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Gene: ADRA2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRA2B
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRA2B
Phenotype: Myoclonus (HP:0001336)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRA2B
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRA2B
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRA2B
Phenotype: Hand tremor (HP:0002378)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRA2B
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRA2B
Phenotype: Headache (HP:0002315)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: ADRB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT SLEEP, FAMILIAL NATURAL, 2 (OMIM:618591)
Gene: ADRB1
Phenotype: Shortened sleep phase (HP:0033063)
Associated disease: SHORT SLEEP, FAMILIAL NATURAL, 2 (OMIM:618591)
Gene: ADRB3
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: ADRB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: ADRB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: ADRB3
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: ADRB3
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: ADRB3
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: ADSL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Seizure (HP:0001250)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Seizure (HP:0001250)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Hypotonia (HP:0001252)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Spasticity (HP:0001257)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Inability to walk (HP:0002540)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Absent speech (HP:0001344)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Myoclonus (HP:0001336)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Wide mouth (HP:0000154)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Opisthotonus (HP:0002179)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Infantile onset (HP:0003593)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Congenital onset (HP:0003577)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Elevated urinary succinylaminoimidazole carboxamide riboside level (HP:6000390)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Hemiplegia (HP:0002301)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)