TaoMedAI/RareMedData huggingface dataset:
Gene: ADAR
Phenotype: Ptosis (HP:0000508)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Glaucoma (HP:0000501)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: ADAR
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADAR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
Gene: ADARB1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Oval face (HP:0000300)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADARB1
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES (OMIM:618862)
Gene: ADCY1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 44 (OMIM:610154)
Gene: ADCY1
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 44 (OMIM:610154)
Gene: ADCY3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Polyphagia (HP:0002591)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Infantile onset (HP:0003593)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Increased serum leptin (HP:0031793)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Childhood onset (HP:0011463)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Hyposmia (HP:0004409)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Obesity (HP:0001513)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY3
Phenotype: Anosmia (HP:0000458)
Associated disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Gene: ADCY5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Benign familial chorea; Benign hereditary chorea; BHC (ORPHA:1429)
Gene: ADCY5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Death in childhood (HP:0003819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Dystonia (HP:0001332)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Tremor (HP:0001337)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Myoclonus (HP:0001336)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Chorea (HP:0002072)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Chorea (HP:0002072)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Camptocormia (HP:0100595)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Frequent falls (HP:0002359)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Resting tremor (HP:0002322)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Resting tremor (HP:0002322)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Involuntary movements (HP:0004305)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Benign familial chorea; Benign hereditary chorea; BHC (ORPHA:1429)
Gene: ADCY5
Phenotype: Anxiety (HP:0000739)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Agitation (HP:0000713)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Facial myokymia (HP:0000317)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Facial myokymia (HP:0000317)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Gene: ADCY5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Gene: ADCY5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Gene: ADCY5
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Gene: ADCY6
Phenotype: Areflexia (HP:0001284)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Hypotonia (HP:0001252)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: ADCY6
Phenotype: Neonatal death (HP:0003811)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: ADCY6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Facial diplegia (HP:0001349)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: ADCY6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: ADCY6
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Gene: ADCY6
Phenotype: Congenital onset (HP:0003577)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Peripheral hypomyelination (HP:0007182)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Third trimester onset (HP:0034197)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Death in infancy (HP:0001522)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Hammertoe (HP:0001765)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADCY6
Phenotype: Pes cavus (HP:0001761)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Gene: ADD1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ADD1
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ADD1
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ADD1
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ADD3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Gene: ADD3
Phenotype: Dysphagia (HP:0002015)
Associated disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)