TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6V0A4
Phenotype: Rickets (HP:0002748)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Vomiting (HP:0002013)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Infantile onset (HP:0003593)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Distal renal tubular acidosis (HP:0008341)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Dehydration (HP:0001944)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Growth delay (HP:0001510)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: ATP6V0A4
Phenotype: Hypokalemia (HP:0002900)
Associated disease: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS (OMIM:602722)
Gene: DEF6
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Perinuclear antineutrophil antibody positivity (HP:0032229)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Atrophic gastritis (HP:0002582)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Cholestasis (HP:0001396)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hepatic failure (HP:0001399)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Anasarca (HP:0012050)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Necrotizing enterocolitis (HP:0033165)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Pleural effusion (HP:0002202)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Anticardiolipin IgG antibody positivity (HP:0020136)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Increased fecal calprotectin level (HP:0034056)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Villous atrophy (HP:0011473)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Fetal onset (HP:0011461)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Inverted nipples (HP:0003186)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hypertension (HP:0000822)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Jaundice (HP:0000952)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Ascites (HP:0001541)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Abnormal lymphocyte proliferation (HP:0031378)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hypokalemia (HP:0002900)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Perianal dermatitis (HP:0011131)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Severe cytomegalovirus infection (HP:0031692)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: DEF6
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY (OMIM:619573)
Gene: GEMIN4
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Calcinosis (HP:0003761)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Hypertension (HP:0000822)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Osteopenia (HP:0000938)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Hyponatremia (HP:0002902)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Hypokalemia (HP:0002900)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Persistent head lag (HP:0032988)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: GEMIN4
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Gene: PNPLA8
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Dysmetria (HP:0001310)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Gowers sign (HP:0003391)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Elevated serum anion gap (HP:0031962)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Fatigue (HP:0012378)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: PNPLA8
Phenotype: Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)
Associated disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Gene: SLC45A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Triangular face (HP:0000325)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: SLC45A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES (OMIM:617532)
Gene: NEUROG3
Phenotype: Abnormal cellular phenotype (HP:0025354)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Gene: NEUROG3
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Malabsorption (HP:0002024)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Diarrhea (HP:0002014)
Associated disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Gene: NEUROG3
Phenotype: Diarrhea (HP:0002014)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Vomiting (HP:0002013)
Associated disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Gene: NEUROG3
Phenotype: Vomiting (HP:0002013)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Gene: NEUROG3
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Gene: NEUROG3
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Dehydration (HP:0001944)
Associated disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Gene: NEUROG3
Phenotype: Dehydration (HP:0001944)
Associated disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Gene: NEUROG3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Gene: DCAF8
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Areflexia (HP:0001284)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Gene: DCAF8
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)