TaoMedAI/RareMedData huggingface dataset:
Gene: AMBN
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
Gene: AMBN
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Infantile onset (HP:0003593)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
Gene: AMBN
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
Gene: AMBN
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
Gene: AMBN
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
Gene: AMBN
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: AMBN
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMBN
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: AMELX
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IE (OMIM:301200)
Gene: AMELX
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IE (OMIM:301200)
Gene: AMELX
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IE (OMIM:301200)
Gene: AMELX
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IE (OMIM:301200)
Gene: AMELX
Phenotype: Abnormal dentin morphology (HP:0010299)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IE (OMIM:301200)
Gene: AMFR
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Developmental regression (HP:0002376)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMFR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE (OMIM:620379)
Gene: AMH
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMH
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: PMDS; Persistent Müllerian duct syndrome; Persistent Müllerian derivatives (ORPHA:2856)
Gene: AMH
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PMDS; Persistent Müllerian duct syndrome; Persistent Müllerian derivatives (ORPHA:2856)
Gene: AMH
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMH
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PMDS; Persistent Müllerian duct syndrome; Persistent Müllerian derivatives (ORPHA:2856)
Gene: AMH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMH
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMH
Phenotype: Congenital onset (HP:0003577)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMH
Phenotype: Male infertility (HP:0003251)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMHR2
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMHR2
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: PMDS; Persistent Müllerian duct syndrome; Persistent Müllerian derivatives (ORPHA:2856)
Gene: AMHR2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PMDS; Persistent Müllerian duct syndrome; Persistent Müllerian derivatives (ORPHA:2856)
Gene: AMHR2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMHR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PMDS; Persistent Müllerian duct syndrome; Persistent Müllerian derivatives (ORPHA:2856)
Gene: AMHR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMHR2
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMHR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMHR2
Phenotype: Male infertility (HP:0003251)
Associated disease: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II (OMIM:261550)
Gene: AMPD1
Phenotype: Increased muscle fatiguability (HP:0003750)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Myalgia (HP:0003326)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD1
Phenotype: Reduced muscle myoadenylate deaminase activity (HP:0034529)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD1
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Gene: AMPD1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD1
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
Gene: AMPD2
Phenotype: Hypertonia (HP:0001276)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Dystonia (HP:0001332)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Short upper lip (HP:0000188)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Macroglossia (HP:0000158)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Clonus (HP:0002169)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Clonus (HP:0002169)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Short stature (HP:0004322)
Associated disease: SPG63; Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
Gene: AMPD2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Gene: AMPD2
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Gene: AMPD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)