TaoMedAI/RareMedData huggingface dataset:
Gene: PRDX1
Phenotype: Delirium (HP:0031258)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Vomiting (HP:0002013)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Homocystinuria (HP:0002156)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Middle age onset (HP:0003596)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Decreased methionine synthase activity (HP:0003524)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Thromboembolism (HP:0001907)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Dementia (HP:0000726)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Young adult onset (HP:0011462)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hematuria (HP:0000790)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Cystathioninuria (HP:0003153)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Decreased circulating adenosylcobalamin concentration (HP:0003145)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Decreased methylmalonyl-CoA mutase activity (HP:0003210)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Cystathioninemia (HP:0003286)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Pallor (HP:0000980)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Long face (HP:0000276)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: High forehead (HP:0000348)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Tachycardia (HP:0001649)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Bradycardia (HP:0001662)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Macrotia (HP:0000400)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Visual impairment (HP:0000505)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PRDX1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Gene: PAH
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Hypoplastic helices (HP:0008589)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Hypertonia (HP:0001276)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Seizure (HP:0001250)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Seizure (HP:0001250)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Pregnancy history (HP:0002686)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Tremor (HP:0001337)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Increased level of hippuric acid in urine (HP:0410066)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Reduced phenylalanine hydroxylase level (HP:0005982)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Elevated urinary phenylpyruvic acid level (HP:0034458)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Bifid distal phalanx of the thumb (HP:0009611)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Elevated urinary gamma-glutamylphenylalanine level (HP:6000281)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Paraplegia (HP:0010550)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Fair hair (HP:0002286)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Memory impairment (HP:0002354)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Motor deterioration (HP:0002333)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Maternal hyperphenylalaninemia (HP:0100610)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Phenylpyruvic acidemia (HP:0004920)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Blue irides (HP:0000635)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Hyperactivity (HP:0000752)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Irritability (HP:0000737)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Anxiety (HP:0000739)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Self-mutilation (HP:0000742)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Depression (HP:0000716)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Depression (HP:0000716)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Autism (HP:0000717)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Psychosis (HP:0000709)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Scleroderma (HP:0100324)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Dry skin (HP:0000958)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Microcephaly (HP:0000252)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: High palate (HP:0000218)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Bladder exstrophy (HP:0002836)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Growth delay (HP:0001510)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: PAH
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Long philtrum (HP:0000343)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Strabismus (HP:0000486)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hyperphenylalaninemic embryopathy; Phenylketonuric embryopathy; Maternal hyperphenylalaninemia; Maternal PKU; Maternal phenylketonuria (ORPHA:2209)
Gene: PAH
Phenotype: Cataract (HP:0000518)
Associated disease: PHENYLKETONURIA (OMIM:261600)
Gene: PAH
Phenotype: Cataract (HP:0000518)
Associated disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Gene: SERPINE1
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY (OMIM:613329)
Gene: SERPINE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY (OMIM:613329)
Gene: SERPINE1
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY (OMIM:613329)
Gene: SERPINE1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Hemoperitoneum (HP:0011854)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY (OMIM:613329)
Gene: SERPINE1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Umbilical cord hematoma (HP:0030657)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Epidural hemorrhage (HP:0100310)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Decreased level of plasminogen (HP:0040228)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Decreased level of tissue plasminogen activator (HP:0040230)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Reduced alpha-2-antiplasmin activity (HP:0040245)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Reduced plasminogen activator inhibitor 1 activity (HP:0040248)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Gene: SERPINE1
Phenotype: Reduced plasminogen activator inhibitor 1 antigen (HP:0040249)
Associated disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)