TaoMedAI/RareMedData huggingface dataset:
Gene: GFER
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Gene: GFER
Phenotype: Cataract (HP:0000518)
Associated disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Gene: GFER
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFER
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY (OMIM:613076)
Gene: GFER
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome; Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome (ORPHA:330054)
Gene: GFI1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT (OMIM:613107)
Gene: GFI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT (OMIM:613107)
Gene: GFI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS (OMIM:607847)
Gene: GFI1
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Pharyngitis (HP:0025439)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS (OMIM:607847)
Gene: GFI1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Cellulitis (HP:0100658)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Fever (HP:0001945)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Leukemia (HP:0001909)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Periodontitis (HP:0000704)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Gingivitis (HP:0000230)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Rhinitis (HP:0012384)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT (OMIM:613107)
Gene: GFI1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS (OMIM:607847)
Gene: GFI1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: GFI1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT (OMIM:613107)
Gene: GFPT1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Poor head control (HP:0002421)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Areflexia (HP:0001284)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Gowers sign (HP:0003391)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Scapular winging (HP:0003691)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Nonprogressive (HP:0003680)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Retinoschisis (HP:0030502)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Generalized weakness of limb muscles (HP:0009028)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Long face (HP:0000276)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: High palate (HP:0000218)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Favorable response of weakness to acetylcholine esterase inhibitors (HP:0030202)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Abnormal peripheral nervous system synaptic transmission (HP:0030191)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Strabismus (HP:0000486)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Pes planus (HP:0001763)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFPT1
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: GFPT1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: GFPT1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Gene: GFRA1
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GFRA1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GFRA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GFRA1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GFRA1
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GFRA1
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GFRA1
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GFRA1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: GFRA1
Phenotype: Anhydramnios (HP:0025700)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Gene: GGCX
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Gene: GGCX
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; Pseudoxanthoma elasticum-like syndrome; PXE-like syndrome (ORPHA:91135)
Gene: GGCX
Phenotype: Increased number of skin folds (HP:0007522)
Associated disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Gene: GGCX
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Gene: GGCX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)