TaoMedAI/RareMedData huggingface dataset:
Gene: JUP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Naxos syndrome; KWWH type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Keratoderma with woolly hair type I; Naxos disease (ORPHA:34217)
Gene: JUP
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Naxos syndrome; KWWH type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Keratoderma with woolly hair type I; Naxos disease (ORPHA:34217)
Gene: JUP
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Arrhythmia (HP:0011675)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Naxos syndrome; KWWH type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Keratoderma with woolly hair type I; Naxos disease (ORPHA:34217)
Gene: JUP
Phenotype: Right ventricular cardiomyopathy (HP:0011663)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Right ventricular cardiomyopathy (HP:0011663)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Naxos syndrome; KWWH type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Keratoderma with woolly hair type I; Naxos disease (ORPHA:34217)
Gene: JUP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Abnormal dermoepidermal junction morphology (HP:0031538)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Sudden death (HP:0001699)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Naxos syndrome; KWWH type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Keratoderma with woolly hair type I; Naxos disease (ORPHA:34217)
Gene: JUP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Naxos syndrome; KWWH type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Keratoderma with woolly hair type I; Naxos disease (ORPHA:34217)
Gene: JUP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Naxos syndrome; KWWH type I; Keratosis palmoplantaris with arrythmogenic cardiomyopathy; Palmoplantar keratoderma with arrythmogenic cardiomyopathy; Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy; Keratoderma with woolly hair type I; Naxos disease (ORPHA:34217)
Gene: JUP
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Onycholysis (HP:0001806)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Absent toenail (HP:0001802)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: ANOS1
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Small scrotum (HP:0000046)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Azoospermia (HP:0000027)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Olfactory lobe agenesis (HP:0001341)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Hyposmia (HP:0004409)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: ANOS1
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Hypothalamic gonadotropin-releasing hormone deficiency (HP:0003164)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: High palate (HP:0000218)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Obesity (HP:0001513)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Leydig cell insensitivity to gonadotropin (HP:0002929)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Anosmia (HP:0000458)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Anosmia (HP:0000458)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Pes planus (HP:0001763)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Ptosis (HP:0000508)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: ANOS1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Gene: ANOS1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: KARS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Vestibular areflexia (HP:0008568)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Hypertonia (HP:0001276)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Head titubation (HP:0002599)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Gene: KARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Gene: KARS1
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Gene: KARS1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Gene: KARS1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)