TaoMedAI/RareMedData huggingface dataset:
Gene: ABCA2
Phenotype: Incoordination (HP:0002311)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Gene: ABCA3
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Nonspecific interstitial pneumonia (HP:0033584)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Bronchial wall thickening (HP:0033542)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Sepsis (HP:0100806)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Clubbing (HP:0001217)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Paraseptal emphysema (HP:0033649)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Neonatal death (HP:0003811)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Cystic pattern on pulmonary HRCT (HP:0025394)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Crazy paving pattern (HP:0025391)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Hypotension (HP:0002615)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Tachypnea (HP:0002789)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Tachypnea (HP:0002789)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Tachypnea (HP:0002789)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Dyspnea (HP:0002094)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Pneumonia (HP:0002090)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Desquamative interstitial pneumonitis (HP:0005942)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Apnea (HP:0002104)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Congenital onset (HP:0003577)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Spontaneous neonatal pneumothorax (HP:0004876)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Atelectasis (HP:0100750)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Cough (HP:0012735)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Nasal flaring (HP:0030863)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Cyanosis (HP:0000961)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Cyanosis (HP:0000961)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Death in infancy (HP:0001522)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Pulmonary opacity (HP:0031457)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: ABCA3
Phenotype: Tachycardia (HP:0001649)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Bradycardia (HP:0001662)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Premature birth (HP:0001622)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: ABCA3
Phenotype: Absent bronchoalveolar surfactant-protein C (HP:0032980)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCA3
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: ABCA3
Phenotype: Hypoxemia (HP:0012418)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Gene: ABCB7
Phenotype: Language impairment (HP:0002463)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Seizure (HP:0001250)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Seizure (HP:0001250)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Hypotonia (HP:0001252)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Ataxia (HP:0001251)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Ataxia (HP:0001251)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Dysarthria (HP:0001260)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Dysarthria (HP:0001260)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Myoclonus (HP:0001336)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Dysmetria (HP:0001310)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Dysmetria (HP:0001310)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Howell-Jolly bodies (HP:0032550)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Increased bone marrow iron (HP:0034499)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Intention tremor (HP:0002080)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Babinski sign (HP:0003487)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Clonus (HP:0002169)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Postural instability (HP:0002172)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Postural instability (HP:0002172)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Schizophrenia (HP:0100753)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Pappenheimer bodies (HP:0020081)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Pappenheimer bodies (HP:0020081)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Abducens palsy (HP:0006897)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Nystagmus (HP:0000639)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Anemia (HP:0001903)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Organic aciduria (HP:0001992)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Gene: ABCB7
Phenotype: Organic aciduria (HP:0001992)
Associated disease: Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; X-linked sideroblastic anemia and spinocerebellar ataxia; XLSA-A (ORPHA:2802)
Gene: ABCB7
Phenotype: Short stature (HP:0004322)
Associated disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)