TaoMedAI/RareMedData huggingface dataset:
Gene: H3-3B
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Pes planus (HP:0001763)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Pes cavus (HP:0001761)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Prominent forehead (HP:0011220)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: HABP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CANCER, NONMEDULLARY, 5 (OMIM:616535)
Gene: HABP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: HABP2
Phenotype: Bone pain (HP:0002653)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: HABP2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Abnormal lymph node morphology (HP:0002733)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Nodular goiter (HP:0005994)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: HABP2
Phenotype: Thromboembolism (HP:0001907)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: HABP2
Phenotype: Colon cancer (HP:0003003)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: HABP2
Phenotype: Recurrent thrombophlebitis (HP:0004419)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: HABP2
Phenotype: Goiter (HP:0000853)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Non-medullary thyroid carcinoma (HP:0040198)
Associated disease: THYROID CANCER, NONMEDULLARY, 5 (OMIM:616535)
Gene: HABP2
Phenotype: Neoplasm of head and neck (HP:0012288)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Gene: HABP2
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Abnormal neck blood vessel morphology (HP:3000037)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Papillary renal cell carcinoma (HP:0006766)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HABP2
Phenotype: Pain (HP:0012531)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: HSD17B10
Phenotype: Hyperkinetic movements (HP:0002487)
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: Increased CSF lactate (HP:0002490)
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 lower urinary tract (HP:0010936)
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: Intellectual disability, severe (HP:0010864)
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 concentration of acylcarnitine in the urine (HP:0500170)
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 concentration of acylcarnitine in the urine (HP:0500170)
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: Poor head control (HP:0002421)
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: Generalized hypotonia (HP:0001290)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Spastic tetraparesis (HP:0001285)
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: Seizure (HP:0001250)
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: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Gastrointestinal dysmotility (HP:0002579)
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: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Spastic diplegia (HP:0001264)
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: Choreoathetosis (HP:0001266)
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: Choreoathetosis (HP:0001266)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Dysarthria (HP:0001260)
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: Dysarthria (HP:0001260)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Spasticity (HP:0001257)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Diffuse cerebral atrophy (HP:0002506)
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: Loss of ambulation (HP:0002505)
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 liver (HP:0001392)
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: Dystonia (HP:0001332)
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: Absent speech (HP:0001344)
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: X-linked dominant inheritance (HP:0001423)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Dysphagia (HP:0002015)
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: Cerebral atrophy (HP:0002059)
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: Increased circulating lactate concentration (HP:0002151)
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: Cerebral cortical atrophy (HP:0002120)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
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: Neurodegeneration (HP:0002180)
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: Infantile onset (HP:0003593)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Nonprogressive encephalopathy (HP:0007030)
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 mitochondrial morphology (HP:0008322)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Developmental regression (HP:0002376)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Developmental regression (HP:0002376)
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: Poor coordination (HP:0002370)
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: Progressive neurologic deterioration (HP:0002344)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
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: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Optic atrophy (HP:0000648)
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: Optic atrophy (HP:0000648)
Associated disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Gene: HSD17B10
Phenotype: Blindness (HP:0000618)
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)