TaoMedAI/RareMedData huggingface dataset:
Gene: ECE1
Phenotype: Cupped ear (HP:0000378)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Tachycardia (HP:0001649)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: TYMP
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Reduced tissue thymidine phosphorylase activity (HP:6000570)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Atrophic muscularis propria (HP:0025149)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Gastroparesis (HP:0002578)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Abnormal cell morphology (HP:0025461)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Early satiety (HP:0033842)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Malabsorption (HP:0002024)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Nausea (HP:0002018)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Constipation (HP:0002019)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Diarrhea (HP:0002014)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Diarrhea (HP:0002014)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Dysphagia (HP:0002015)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Vomiting (HP:0002013)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Paresthesia (HP:0003401)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Abdominal cramps (HP:0032155)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Diplopia (HP:0000651)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Anemia (HP:0001903)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Cachexia (HP:0004326)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Cachexia (HP:0004326)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Poor appetite (HP:0004396)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Malnutrition (HP:0004395)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Dementia (HP:0000726)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Dementia (HP:0000726)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Elevated circulating thymidine concentration (HP:0034276)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Elevated circulating deoxyuridine concentration (HP:0034277)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Small intestinal dysmotility (HP:0012850)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Abnormality of the extraocular muscles (HP:0008049)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Slender build (HP:0001533)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Intestinal perforation (HP:0031368)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Hyperactive bowel sounds (HP:0030143)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Weight loss (HP:0001824)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Weight loss (HP:0001824)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Ptosis (HP:0000508)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: TYMP
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: Allodynia (HP:0012533)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Gene: TYMP
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: ECHS1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Poor suck (HP:0002033)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Apnea (HP:0002104)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level (HP:6000469)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Bradycardia (HP:0001662)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECHS1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Gene: ECM1
Phenotype: Seizure (HP:0001250)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Seizure (HP:0001250)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Papillary dermis eosinophilic hyaline material (HP:6000656)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Dystonia (HP:0001332)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Multiple eyelid beaded papules (HP:6000842)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Tongue nodules (HP:0000199)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Microglossia (HP:0000171)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Paranoia (HP:0011999)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Acne (HP:0001061)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Memory impairment (HP:0002354)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Skin plaque (HP:0200035)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Gene: ECM1
Phenotype: Papule (HP:0200034)
Associated disease: Urbach-Wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis (ORPHA:530)
Gene: ECM1
Phenotype: Papule (HP:0200034)
Associated disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)