TaoMedAI/RareMedData huggingface dataset:
Gene: CTSK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Micrognathia (HP:0000347)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Micrognathia (HP:0000347)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Strabismus (HP:0000486)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Short foot (HP:0001773)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Prominent nose (HP:0000448)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Prominent nose (HP:0000448)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Obtuse angle of mandible (HP:0005446)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSK
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Proptosis (HP:0000520)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Ridged nail (HP:0001807)
Associated disease: PYCNODYSOSTOSIS (OMIM:265800)
Gene: CTSK
Phenotype: Ridged nail (HP:0001807)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Chronic pain (HP:0012532)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Gene: CTSK
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSK
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CUX1
Phenotype: Motor delay (HP:0001270)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Hypospadias (HP:0000047)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Pulmonary sequestration (HP:0100632)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Oligodontia (HP:0000677)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Short stature (HP:0004322)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Long face (HP:0000276)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Broad forehead (HP:0000337)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CUX1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Gene: CYB5A
Phenotype: Lip discoloration (HP:0025118)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Spasticity (HP:0001257)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Micropenis (HP:0000054)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Hypospadias (HP:0000047)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Abnormal circulating corticosterone level (HP:0012112)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Decreased circulating dehydroepiandrosterone-sulfate concentration (HP:0031215)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Congenital onset (HP:0003577)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Sparse body hair (HP:0002231)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Athetosis (HP:0002305)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Scrotal hypospadias (HP:0012853)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Cyanosis (HP:0000961)
Associated disease: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA (OMIM:250790)
Gene: CYB5A
Phenotype: Cyanosis (HP:0000961)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Decreased circulating androgen concentration (HP:0030349)
Associated disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Gene: CYB5A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB5A
Phenotype: Esotropia (HP:0000565)
Associated disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Gene: CYB561
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)
Gene: CYB561
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)
Gene: CYB561
Phenotype: Infantile onset (HP:0003593)
Associated disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)
Gene: CYB561
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)
Gene: CYB561
Phenotype: Anemia (HP:0001903)
Associated disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)
Gene: CYB561
Phenotype: Childhood onset (HP:0011463)
Associated disease: ORTHOSTATIC HYPOTENSION 2 (OMIM:618182)