TaoMedAI/RareMedData huggingface dataset:
Gene: HMBS
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Nausea (HP:0002018)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Constipation (HP:0002019)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Constipation (HP:0002019)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Dark urine (HP:0040319)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Red urine (HP:0040318)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Diarrhea (HP:0002014)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Diarrhea (HP:0002014)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Vomiting (HP:0002013)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Intention tremor (HP:0002080)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Dysuria (HP:0100518)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Dysuria (HP:0100518)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Paralysis (HP:0003470)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Acute episodes of neuropathic symptoms (HP:0003489)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Babinski sign (HP:0003487)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Back pain (HP:0003418)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Apraxia (HP:0002186)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Paresthesia (HP:0003401)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Insomnia (HP:0100785)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Orange urine (HP:0032002)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Paranoia (HP:0011999)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Memory impairment (HP:0002354)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Limb pain (HP:0009763)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Increased urine urobilinogen (HP:0031890)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Fever (HP:0001945)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Anemia (HP:0001903)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Hallucinations (HP:0000738)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Anxiety (HP:0000739)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Anxiety (HP:0000739)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Depression (HP:0000716)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Depression (HP:0000716)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Restlessness (HP:0000711)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Hypertension (HP:0000822)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Hypertension (HP:0000822)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Reduced erythrocyte porphobilinogen deaminase activity (HP:4000199)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Neck pain (HP:0030833)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Kyphosis (HP:0002808)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Long philtrum (HP:0000343)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Tachycardia (HP:0001649)
Associated disease: PORPHYRIA, ACUTE INTERMITTENT (OMIM:176000)
Gene: HMBS
Phenotype: Tachycardia (HP:0001649)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Partial absence of cerebellar vermis (HP:0002951)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Acute intermittent porphyria (ORPHA:79276)
Gene: HMBS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Cataract (HP:0000518)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMBS
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620711)
Gene: HMBS
Phenotype: Ptosis (HP:0000508)
Associated disease: ENCEPHALOPATHY, PORPHYRIA-RELATED (OMIM:620704)
Gene: HMGB3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Widely-spaced incisors (HP:0006304)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Short stature (HP:0004322)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Anteverted ears (HP:0040080)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Esotropia (HP:0000565)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGB3
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Gene: HMGCL
Phenotype: Elevated urinary 3-methylcrotonylglycine level (HP:0033596)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Encephalopathy (HP:0001298)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Lethargy (HP:0001254)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Seizure (HP:0001250)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Seizure (HP:0001250)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Ataxia (HP:0001251)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Dysarthria (HP:0001260)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Spasticity (HP:0001257)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Spasticity (HP:0001257)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Coma (HP:0001259)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Coma (HP:0001259)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Death in childhood (HP:0003819)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Myoclonus (HP:0001336)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hypotension (HP:0002615)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Increased level of hippuric acid in urine (HP:0410066)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Increased level of 3-hydroxy-3-methylglutaric acid in urine (HP:0410051)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Tachypnea (HP:0002789)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Diarrhea (HP:0002014)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Diarrhea (HP:0002014)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: 3-Methylglutaric aciduria (HP:0003344)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: 3-Methylglutaric aciduria (HP:0003344)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hypothermia (HP:0002045)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Anorexia (HP:0002039)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Apnea (HP:0002104)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Reduced HMG-CoA lyase activity in cultured fibroblasts (HP:6000216)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Drowsiness (HP:0002329)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Decreased prothrombin time (HP:0032198)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Dehydration (HP:0001944)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Dehydration (HP:0001944)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)
Gene: HMGCL
Phenotype: Fever (HP:0001945)
Associated disease: Hydroxymethylglutaric aciduria; HMG-CoA lyase deficiency; 3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (ORPHA:20)
Gene: HMGCL
Phenotype: Fever (HP:0001945)
Associated disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (OMIM:246450)