TaoMedAI/RareMedData huggingface dataset:
Gene: FANCB
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Absent radius (HP:0003974)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Absent radius (HP:0003974)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hypogonadism (HP:0000135)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Renal agenesis (HP:0000104)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Renal agenesis (HP:0000104)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Anal atresia (HP:0002023)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Anal atresia (HP:0002023)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Infantile onset (HP:0003593)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Anemic pallor (HP:0001017)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Bilateral radial aplasia (HP:0004977)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Isomerism (HP:0031853)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Leukemia (HP:0001909)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Third trimester onset (HP:0034197)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Childhood onset (HP:0011463)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Short humerus (HP:0005792)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Deficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Prolonged G2 phase of cell cycle (HP:0003214)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Male infertility (HP:0003251)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Absence of the sacrum (HP:0010305)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Sacral dimple (HP:0000960)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Retrognathia (HP:0000278)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Death in infancy (HP:0001522)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Small for gestational age (HP:0001518)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Growth delay (HP:0001510)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Overfolded helix (HP:0000396)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Low-set ears (HP:0000369)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Dextrocardia (HP:0001651)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS (OMIM:314390)
Gene: FANCB
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Strabismus (HP:0000486)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Microcornea (HP:0000482)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Short neck (HP:0000470)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Gene: FANCB
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Sujansky-Leonard syndrome; VACTERL with hydrocephalus (ORPHA:3412)
Gene: FANCB
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)