TaoMedAI/RareMedData huggingface dataset:
Gene: LIFR
Phenotype: Camptodactyly (HP:0012385)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Hoarse voice (HP:0001609)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Low-set ears (HP:0000369)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Micrognathia (HP:0000347)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Tibial bowing (HP:0002982)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Tibial bowing (HP:0002982)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Micromelia (HP:0002983)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Square face (HP:0000321)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Femoral bowing (HP:0002980)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Deeply set eye (HP:0000490)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Anteverted nares (HP:0000463)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Short neck (HP:0000470)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Talipes (HP:0001883)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIG1
Phenotype: Motor delay (HP:0001270)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Increased gamma-delta T cell proportion (HP:0500270)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG1
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Gene: LIG3
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Atrophic muscularis propria (HP:0025149)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Dysmetria (HP:0001310)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Abnormal cell morphology (HP:0025461)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Nausea (HP:0002018)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Diarrhea (HP:0002014)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Vomiting (HP:0002013)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Paresthesia (HP:0003401)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Headache (HP:0002315)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Anemia (HP:0001903)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Diffuse leukoencephalopathy (HP:0006994)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Cachexia (HP:0004326)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Involuntary movements (HP:0004305)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Poor appetite (HP:0004396)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Dementia (HP:0000726)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Small intestinal dysmotility (HP:0012850)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Abnormality of the extraocular muscles (HP:0008049)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Early young adult onset (HP:0025708)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Cataract (HP:0000518)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Gene: LIG3
Phenotype: Weight loss (HP:0001824)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Ptosis (HP:0000508)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG3
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: LIG4
Phenotype: Acute leukemia (HP:0002488)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Seizure (HP:0001250)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Paraproteinemia (HP:0031047)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: LIG4
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Micropenis (HP:0000054)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hypospadias (HP:0000047)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Neoplasm (HP:0002664)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Lymphoma (HP:0002665)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Lymphoma (HP:0002665)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)