TaoMedAI/RareMedData huggingface dataset:
Gene: FANCE
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Absent radius (HP:0003974)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Absent radius (HP:0003974)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Renal agenesis (HP:0000104)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Renal agenesis (HP:0000104)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Anemic pallor (HP:0001017)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Anemic pallor (HP:0001017)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Leukemia (HP:0001909)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Leukemia (HP:0001909)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Deficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Deficient excision of UV-induced pyrimidine dimers in DNA (HP:0003213)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Prolonged G2 phase of cell cycle (HP:0003214)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Prolonged G2 phase of cell cycle (HP:0003214)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Male infertility (HP:0003251)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Small for gestational age (HP:0001518)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Small for gestational age (HP:0001518)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Strabismus (HP:0000486)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Strabismus (HP:0000486)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Pancytopenia (HP:0001876)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Pancytopenia (HP:0001876)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: FANCE
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Gene: FANCE
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Gene: ACSL4
Phenotype: Tapered finger (HP:0001182)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Hypotonia (HP:0001252)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Proteinuria (HP:0000093)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Malar flattening (HP:0000272)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Gene: ACSL4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)
Gene: ACSL4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome (ORPHA:86818)