TaoMedAI/RareMedData huggingface dataset:
Gene: ZSWIM6
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Absent fetal nasal bone (HP:0025706)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Midline defect of the nose (HP:0004122)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Telecanthus (HP:0000506)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Telecanthus (HP:0000506)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Ptosis (HP:0000508)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Ptosis (HP:0000508)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Glaucoma (HP:0000501)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: ZSWIM6
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Gene: ZSWIM6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZSWIM6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZSWIM6
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Myopia (HP:0000545)
Associated disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Gene: ZSWIM6
Phenotype: Myopia (HP:0000545)
Associated disease: Acromelic frontonasal dysplasia; Acromelic frontonasal dysostosis; Toriello syndrome; AFND (ORPHA:1827)
Gene: FANCM
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Spina bifida (HP:0002414)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FANCM
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FANCM
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hydroureter (HP:0000072)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hypospadias (HP:0000047)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FANCM
Phenotype: Azoospermia (HP:0000027)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Neoplasm (HP:0002664)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Gene: FANCM
Phenotype: Scoliosis (HP:0002650)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Gene: FANCM
Phenotype: Cleft palate (HP:0000175)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Aplasia/Hypoplasia of fingers (HP:0006265)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FANCM
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Anal atresia (HP:0002023)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Gene: FANCM
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FANCM
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FANCM
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Gene: FANCM
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Gene: FANCM
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Gene: FANCM
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Gene: FANCM
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: FANCM
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Gene: FANCM
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: FANCM
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: GBA2
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Gene: GBA2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Gene: GBA2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Gene: GBA2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)