TaoMedAI/RareMedData huggingface dataset:
Gene: JAK3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Pneumonia (HP:0002090)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Partial IgA deficiency (HP:0011837)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Pustule (HP:0200039)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Absent natural killer cells (HP:0040219)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Absent natural killer cells (HP:0040219)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Skin rash (HP:0000988)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Acute otitis media (HP:0000371)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Cutaneous anergy (HP:0002965)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Abnormality of B cell physiology (HP:0005372)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Absent cellular immunity (HP:0005354)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Recurrent opportunistic infections (HP:0005390)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JARID2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Cleft lip (HP:0410030)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Psychosis (HP:0000709)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Joint contracture of the 5th finger (HP:0009183)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Retrognathia (HP:0000278)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Broad forehead (HP:0000337)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Short philtrum (HP:0000322)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Triangular face (HP:0000325)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Pointed chin (HP:0000307)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Pes planus (HP:0001763)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Protruding ear (HP:0000411)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Ptosis (HP:0000508)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JARID2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES (OMIM:620098)
Gene: JUP
Phenotype: T-wave inversion (HP:0010872)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: T-wave inversion (HP:0010872)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Syncope (HP:0001279)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Syncope (HP:0001279)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: 3-4 finger osseus syndactyly (HP:0006097)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Abnormal morphology of right ventricular trabeculae (HP:0031193)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Abnormal dermoepidermal hemidesmosome morphology (HP:0032449)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Hypovolemic shock (HP:0031274)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
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: Congenital onset (HP:0003577)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Adult onset (HP:0003581)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Woolly hair (HP:0002224)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Woolly hair (HP:0002224)
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: Woolly hair (HP:0002224)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Sparse body hair (HP:0002231)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Curly hair (HP:0002212)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Curly hair (HP:0002212)
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: Sparse scalp hair (HP:0002209)
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: Abnormality of hair texture (HP:0010719)
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: Nail dystrophy (HP:0008404)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Acantholysis (HP:0100792)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Acantholysis (HP:0100792)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Absent hair (HP:0002298)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Fragile skin (HP:0001030)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Fragile skin (HP:0001030)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Vertigo (HP:0002321)
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: Epidermal acanthosis (HP:0025092)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Congenital alopecia totalis (HP:0005597)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Palpitations (HP:0001962)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Natal tooth (HP:0000695)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (OMIM:611528)
Gene: JUP
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Lethal acantholytic erosive disorder (ORPHA:158687)
Gene: JUP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NAXOS DISEASE (OMIM:601214)
Gene: JUP
Phenotype: Hyperhidrosis (HP:0000975)
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: NAXOS DISEASE (OMIM:601214)