TaoMedAI/RareMedData huggingface dataset:
Gene: PAX9
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PBX1
Phenotype: Hypoplastic helices (HP:0008589)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Microtia (HP:0008551)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Lethargy (HP:0001254)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Micropenis (HP:0000054)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Beta 2-microglobulinuria (HP:0025466)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Potter facies (HP:0002009)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Oliguria (HP:0100520)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Decreased numbers of nephrons (HP:0005563)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Anemia (HP:0001903)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Short stature (HP:0004322)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Glycosuria (HP:0003076)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Anteverted ears (HP:0040080)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Edema (HP:0000969)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Narrow face (HP:0000275)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Bifid ureter (HP:0030037)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Growth delay (HP:0001510)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Growth delay (HP:0001510)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Thickened helices (HP:0000391)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Premature birth (HP:0001622)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PBX1
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (OMIM:617641)
Gene: PBX1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Renal hypoplasia, bilateral (ORPHA:97362)
Gene: PC
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Seizure (HP:0001250)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Hypotonia (HP:0001252)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Clonus (HP:0002169)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Infantile onset (HP:0003593)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Congenital onset (HP:0003577)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Athetosis (HP:0002305)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Neuronal loss in the cerebral cortex (HP:0007190)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PC
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Gene: PCBD1
Phenotype: Elevated urinary 7-biopterin level (HP:0033594)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Hypertonia (HP:0001276)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Tremor (HP:0001337)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Tremor (HP:0001337)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Transient hyperphenylalaninemia (HP:0008297)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Gene: PCBD1
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Irritability (HP:0000737)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Abnormal circulating neopterin concentration (HP:0040206)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Abnormal circulating biopterin concentration (HP:0040210)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCBD1
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Hyperphenylalaninemia with primapterinuria; Hyperphenylalaninemia due to dehydratase deficiency; Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency (ORPHA:1578)
Gene: PCCA
Phenotype: Lethargy (HP:0001254)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Seizure (HP:0001250)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Coma (HP:0001259)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Dystonia (HP:0001332)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Increased level of hippuric acid in urine (HP:0410066)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Tachypnea (HP:0002789)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Propionyl-CoA carboxylase deficiency (HP:0003353)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Propionyl-CoA carboxylase deficiency (HP:0003353)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Constipation (HP:0002019)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Constipation (HP:0002019)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Vomiting (HP:0002013)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Apnea (HP:0002104)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)
Gene: PCCA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Dehydration (HP:0001944)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PROPIONIC ACIDEMIA (OMIM:606054)
Gene: PCCA
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Ketotic hyperglycinemia; Propionyl-CoA carboxylase deficiency; Propionic acidemia; Propionic aciduria (ORPHA:35)