TaoMedAI/RareMedData huggingface dataset:
Gene: FANCG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Absent radius (HP:0003974)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Renal agenesis (HP:0000104)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Anemic pallor (HP:0001017)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Leukemia (HP:0001909)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Leukemia (HP:0001909)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Deficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Prolonged G2 phase of cell cycle (HP:0003214)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Male infertility (HP:0003251)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Small for gestational age (HP:0001518)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Growth delay (HP:0001510)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Strabismus (HP:0000486)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FANCG
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCG
Phenotype: Pancytopenia (HP:0001876)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCG
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Gene: FBLN1
Phenotype: Syndactyly (HP:0001159)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Motor delay (HP:0001270)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Dystonia (HP:0001332)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Gene: FBLN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Metatarsal synostosis (HP:0001440)
Associated disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Gene: FBLN1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Polydactyly (HP:0010442)
Associated disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Gene: FBLN1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Pseudobulbar signs (HP:0002200)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Gene: FBLN1
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Gene: FBLN1
Phenotype: Nonprogressive encephalopathy (HP:0007030)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Gene: FBLN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Gene: FBLN1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FBLN1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FBLN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)