TaoMedAI/RareMedData huggingface dataset:
Gene: HSD17B10
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HSD10 disease, neonatal type; 2-methyl-3-hydroxybutyric aciduria, neonatal type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type; HSD10 deficiency, neonatal type; MHBD deficiency, neonatal type (ORPHA:391457)
Gene: HSD17B10
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Syndromic X-linked intellectual disability type 10; HSD10 disease, atypical type; HSD10 deficiency, atypical type; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (ORPHA:85295)
Gene: HSD17B10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Restlessness (HP:0000711)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Restlessness (HP:0000711)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Agitation (HP:0000713)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Syndromic X-linked intellectual disability type 10; HSD10 disease, atypical type; HSD10 deficiency, atypical type; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (ORPHA:85295)
Gene: HSD17B10
Phenotype: Elevated circulating tiglylglycine concentration (HP:0034290)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: HSD10 disease, neonatal type; 2-methyl-3-hydroxybutyric aciduria, neonatal type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type; HSD10 deficiency, neonatal type; MHBD deficiency, neonatal type (ORPHA:391457)
Gene: HSD17B10
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Abnormality of mitochondrial metabolism (HP:0003287)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: HSD10 disease, neonatal type; 2-methyl-3-hydroxybutyric aciduria, neonatal type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type; HSD10 deficiency, neonatal type; MHBD deficiency, neonatal type (ORPHA:391457)
Gene: HSD17B10
Phenotype: Cyanosis (HP:0000961)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Microcephaly (HP:0000252)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: HSD10 disease, neonatal type; 2-methyl-3-hydroxybutyric aciduria, neonatal type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type; HSD10 deficiency, neonatal type; MHBD deficiency, neonatal type (ORPHA:391457)
Gene: HSD17B10
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: HSD10 disease, neonatal type; 2-methyl-3-hydroxybutyric aciduria, neonatal type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type; HSD10 deficiency, neonatal type; MHBD deficiency, neonatal type (ORPHA:391457)
Gene: HSD17B10
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Visual loss (HP:0000572)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Visual loss (HP:0000572)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HSD17B10
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; MHBD deficiency, classic type; HSD10 deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; MHBD deficiency, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 disease, classic type; HSD10 deficiency, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type (ORPHA:391428)
Gene: HAGH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY (OMIM:614033)
Gene: HAGH
Phenotype: Glyoxalase deficiency (HP:0003258)
Associated disease: HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY (OMIM:614033)
Gene: HADHA
Phenotype: Rigors (HP:0025145)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Primitive reflex (HP:0002476)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Motor delay (HP:0001270)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Areflexia (HP:0001284)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Lethargy (HP:0001254)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Lethargy (HP:0001254)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Seizure (HP:0001250)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Seizure (HP:0001250)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Hypotonia (HP:0001252)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Hypotonia (HP:0001252)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Coma (HP:0001259)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Cholestasis (HP:0001396)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Cholestasis (HP:0001396)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Pregnancy history (HP:0002686)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Poor suck (HP:0002033)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Myalgia (HP:0003326)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Myalgia (HP:0003326)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Muscle spasm (HP:0003394)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Babinski sign (HP:0003487)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Frequent falls (HP:0002359)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts (HP:6001023)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)