TaoMedAI/RareMedData huggingface dataset:
Gene: FANCI
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Absent radius (HP:0003974)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Congenital onset (HP:0003577)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Short thumb (HP:0009778)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Chiari malformation (HP:0002308)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Anemia (HP:0001903)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Decreased body weight (HP:0004325)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Short stature (HP:0004322)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Chromosomal breakage induced by crosslinking agents (HP:0003221)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Colpocephaly (HP:0030048)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Triangular face (HP:0000325)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Astigmatism (HP:0000483)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Short neck (HP:0000470)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCI
Phenotype: Myopia (HP:0000545)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: FANCI
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Gene: TMLHE
Phenotype: Seizure (HP:0001250)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Narrow mouth (HP:0000160)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Large forehead (HP:0002003)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Developmental regression (HP:0002376)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Autism (HP:0000717)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Obesity (HP:0001513)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Short philtrum (HP:0000322)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: TMLHE
Phenotype: Ptosis (HP:0000508)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 (OMIM:300872)
Gene: PANK4
Phenotype: Posterior cortical cataract (HP:0010924)
Associated disease: CATARACT 49 (OMIM:619593)
Gene: PANK4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 49 (OMIM:619593)
Gene: PANK4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CATARACT 49 (OMIM:619593)
Gene: PANK4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CATARACT 49 (OMIM:619593)
Gene: PANK4
Phenotype: Nystagmus (HP:0000639)
Associated disease: CATARACT 49 (OMIM:619593)
Gene: PANK4
Phenotype: Childhood onset (HP:0011463)
Associated disease: CATARACT 49 (OMIM:619593)
Gene: STEAP3
Phenotype: Hypochromia (HP:0032231)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Azoospermia (HP:0000027)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Azoospermia (HP:0000027)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Dysplastic erythropoesis (HP:0012134)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Hypogonadism (HP:0000135)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Anemia (HP:0001903)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Pallor (HP:0000980)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Pallor (HP:0000980)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Growth delay (HP:0001510)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Growth delay (HP:0001510)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)