TaoMedAI/RareMedData huggingface dataset:
Gene: DYRK1A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Cataract (HP:0000518)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DYRK1A
Phenotype: Hallux valgus (HP:0001822)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Hallux valgus (HP:0001822)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Short toe (HP:0001831)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Exotropia (HP:0000577)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Esotropia (HP:0000565)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Retinal detachment (HP:0000541)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Retinal detachment (HP:0000541)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Myopia (HP:0000545)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Myopia (HP:0000545)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: TOR1A
Phenotype: Hand clenching (HP:0001188)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Panic attack (HP:0025269)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: TOR1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: TOR1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Inability to walk (HP:0002540)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Abnormal posturing (HP:0002533)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Personality disorder (HP:0012075)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Dystonia (HP:0001332)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Dystonia (HP:0001332)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Absent speech (HP:0001344)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Tremor (HP:0001337)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Babinski sign (HP:0003487)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Spinal myoclonus (HP:0010531)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Middle age onset (HP:0003596)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Facial palsy (HP:0010628)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Hand tremor (HP:0002378)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Writer's cramp (HP:0002356)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Akinesia (HP:0002304)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: TOR1A
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: TOR1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Depression (HP:0000716)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Depression (HP:0000716)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Pes valgus (HP:0008081)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Prominent occiput (HP:0000269)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Kyphosis (HP:0002808)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Death in infancy (HP:0001522)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Growth delay (HP:0001510)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: EOTD; Early-onset isolated dystonia; Oppenheim dystonia; Early-onset generalized limb-onset dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Early-onset generalized torsion dystonia; Dystonia musculorum deformans; Idiopathic torsion dystonia (ORPHA:256)
Gene: TOR1A
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Micrognathia (HP:0000347)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Round face (HP:0000311)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Macrotia (HP:0000400)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Strabismus (HP:0000486)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Torticollis (HP:0000473)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: TOR1A
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Gene: TOR1A
Phenotype: Short neck (HP:0000470)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Hammertoe (HP:0001765)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: TOR1A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Gene: ECE1
Phenotype: Tapered finger (HP:0001182)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Micropenis (HP:0000054)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ECE1
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Interphalangeal thumb joint contracture (HP:0009626)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ECE1
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Agitation (HP:0000713)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ECE1
Phenotype: Short nose (HP:0003196)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Hypertension (HP:0000822)
Associated disease: HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION (OMIM:613870)
Gene: ECE1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: ECE1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: ECE1
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)