TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6AP1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Decreased circulating total IgA (HP:0003460)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Chronic decreased circulating total IgG (HP:0032134)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Death in infancy (HP:0001522)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Abnormal protein O-linked glycosylation (HP:0012358)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Abnormal protein N-linked glycosylation (HP:0012347)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: High forehead (HP:0000348)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP7A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Pili torti (HP:0003777)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Poor head control (HP:0002421)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Sepsis (HP:0100806)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Seizure (HP:0001250)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Seizure (HP:0001250)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Seizure (HP:0001250)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Spasticity (HP:0001257)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Abnormal esophagus physiology (HP:0025270)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Thick hair (HP:0100874)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Ureteral obstruction (HP:0006000)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Humerus varus (HP:0003874)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Death in childhood (HP:0003819)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Cholestasis (HP:0001396)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Large iliac wing (HP:0008818)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Coxa valga (HP:0002673)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Coxa valga (HP:0002673)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Wormian bones (HP:0002645)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Wormian bones (HP:0002645)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Osteolysis (HP:0002797)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hepatitis (HP:0012115)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Rickets (HP:0002748)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Malabsorption (HP:0002024)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Poor suck (HP:0002033)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Chorea (HP:0002072)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Hypothermia (HP:0002045)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hypothermia (HP:0002045)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Hypothermia (HP:0002045)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Keloids (HP:0010562)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Absent tibia (HP:0009556)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Woolly hair (HP:0002224)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Coarse hair (HP:0002208)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Coarse hair (HP:0002208)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Exostoses (HP:0100777)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Exostoses (HP:0100777)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Exostoses (HP:0100777)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Hernia (HP:0100790)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Brittle hair (HP:0002299)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Thickened skin (HP:0001072)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Esophagitis (HP:0100633)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Scarring (HP:0100699)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Short palm (HP:0004279)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Short stature (HP:0004322)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Limited knee extension (HP:0003066)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: MENKES DISEASE (OMIM:309400)
Gene: ATP7A
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Abnormal peripheral nervous system morphology (HP:0000759)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Gene: ATP7A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ATP7A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Narrow chest (HP:0000774)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Narrow chest (HP:0000774)
Associated disease: Menkes syndrome; Menkes disease; Menkes kinky hair disease; MD (ORPHA:565)
Gene: ATP7A
Phenotype: Narrow chest (HP:0000774)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Broad clavicles (HP:0000916)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Abnormal pubic bone morphology (HP:0003172)
Associated disease: Occipital horn syndrome (ORPHA:198)
Gene: ATP7A
Phenotype: Short humerus (HP:0005792)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Broad ribs (HP:0000885)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Short clavicles (HP:0000894)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Gene: ATP7A
Phenotype: Pelvic bone exostoses (HP:0003276)
Associated disease: OCCIPITAL HORN SYNDROME (OMIM:304150)