TaoMedAI/RareMedData huggingface dataset:
Gene: SYCP2L
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: SYCP2L
Phenotype: Reduced antral follicle count (HP:0033085)
Associated disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Gene: JAZF1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: JAZF1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BRAT1
Phenotype: Horizontal jerk nystagmus (HP:0007286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Hypertonia (HP:0001276)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Rigidity (HP:0002063)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Hypothermia (HP:0002045)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Babinski sign (HP:0003487)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Apnea (HP:0002104)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Apnea (HP:0002104)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Clonus (HP:0002169)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Gliosis (HP:0002171)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Progressive (HP:0003676)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Agitation (HP:0000713)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Joint contracture (HP:0034392)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Broad face (HP:0000283)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Focal motor status epilepticus (HP:0032663)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Death in infancy (HP:0001522)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Truncal titubation (HP:0030147)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Bradycardia (HP:0001662)
Associated disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
Gene: BRAT1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: BRAT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES (OMIM:618056)
Gene: RFX6
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Cholestasis (HP:0001396)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Malabsorption (HP:0002024)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Diarrhea (HP:0002014)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Biliary atresia (HP:0005912)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Acholic stools (HP:0011985)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Absent gallbladder (HP:0011467)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Ascites (HP:0001541)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: RFX6
Phenotype: Annular pancreas (HP:0001734)
Associated disease: MITCHELL-RILEY SYNDROME (OMIM:615710)
Gene: LHFPL5
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
Gene: LHFPL5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
Gene: LHFPL5
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
Gene: LHFPL5
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
Gene: LHFPL5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
Gene: LHFPL5
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
Gene: SCUBE3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCUBE3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCUBE3
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCUBE3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCUBE3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCUBE3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCUBE3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SCUBE3
Phenotype: Hypospadias (HP:0000047)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SCUBE3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Gene: SCUBE3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)