TaoMedAI/RareMedData huggingface dataset:
Gene: ATP7A
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Soft skin (HP:0000977)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Cutis laxa (HP:0000973)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Dry skin (HP:0000958)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Jaundice (HP:0000952)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Osteopenia (HP:0000938)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Sparse hair (HP:0008070)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Sparse hair (HP:0008070)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Full cheeks (HP:0000293)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Alopecia (HP:0001596)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Narrow face (HP:0000275)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Long face (HP:0000276)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Coxa vara (HP:0002812)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Kyphosis (HP:0002808)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Kyphosis (HP:0002808)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Metaphyseal spurs (HP:0005054)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Redundant skin (HP:0001582)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: High palate (HP:0000218)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Bladder carcinoma (HP:0002862)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Genu valgum (HP:0002857)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Genu valgum (HP:0002857)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Growth delay (HP:0001510)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Aplasia/hypoplasia of the humerus (HP:0006507)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Fatigue (HP:0012378)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Long philtrum (HP:0000343)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Long philtrum (HP:0000343)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: High forehead (HP:0000348)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: High forehead (HP:0000348)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Abnormal fibula morphology (HP:0002991)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Carotid artery tortuosity (HP:0005302)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Long neck (HP:0000472)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Pes planus (HP:0001763)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Pes planus (HP:0001763)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP5PO
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Refractory status epilepticus (HP:0032867)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP5PO
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 (OMIM:620359)
Gene: ATP7B
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Excessive salivation (HP:0003781)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Limb dystonia (HP:0002451)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Mixed demyelinating and axonal polyneuropathy (HP:0007327)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Increased circulating copper concentration (HP:0032254)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Sunflower cataract (HP:6000642)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Sunflower cataract (HP:6000642)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Seizure (HP:0001250)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Seizure (HP:0001250)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Dysarthria (HP:0001260)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Dysarthria (HP:0001260)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Coma (HP:0001259)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Proteinuria (HP:0000093)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hepatic failure (HP:0001399)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Cirrhosis (HP:0001394)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Arthritis (HP:0001369)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Joint swelling (HP:0001386)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Malaise (HP:0033834)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Dystonia (HP:0001332)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Dystonia (HP:0001332)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Tremor (HP:0001337)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Tremor (HP:0001337)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Bone pain (HP:0002653)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hepatitis (HP:0012115)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Osteomalacia (HP:0002749)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Dysphagia (HP:0002015)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Vomiting (HP:0002013)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Vomiting (HP:0002013)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Rigidity (HP:0002063)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Chorea (HP:0002072)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Esophageal varix (HP:0002040)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Back pain (HP:0003418)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hypouricemia (HP:0003537)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Acute hepatitis (HP:0200119)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Insomnia (HP:0100785)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Insomnia (HP:0100785)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Atypical or prolonged hepatitis (HP:0200122)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hand tremor (HP:0002378)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hypokinesia (HP:0002375)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: High nonceruloplasmin-bound serum copper (HP:0010838)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Increased urinary copper concentration (HP:0010839)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Kayser-Fleischer ring (HP:0200032)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Kayser-Fleischer ring (HP:0200032)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Pedal edema (HP:0010741)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Clumsiness (HP:0002312)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Drooling (HP:0002307)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Amplification of sexual behavior (HP:5200321)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Anemia (HP:0001903)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Anemia (HP:0001903)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Increased body weight (HP:0004324)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Glycosuria (HP:0003076)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Personality changes (HP:0000751)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Personality changes (HP:0000751)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hallucinations (HP:0000738)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Anxiety (HP:0000739)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Depression (HP:0000716)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Dementia (HP:0000726)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Psychosis (HP:0000709)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Childhood onset (HP:0011463)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Young adult onset (HP:0011462)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Infertility (HP:0000789)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hyposmia (HP:0004409)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Face of the giant panda sign (HP:0034254)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Abdominal distention (HP:0003270)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Pruritus (HP:0000989)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Jaundice (HP:0000952)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Jaundice (HP:0000952)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Edema (HP:0000969)
Associated disease: WILSON DISEASE (OMIM:277900)
Gene: ATP7B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Gene: ATP7B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: WILSON DISEASE (OMIM:277900)