TaoMedAI/RareMedData huggingface dataset:
Gene: ITGB4
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Onycholysis of distal fingernails (HP:0008400)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Facial palsy (HP:0010628)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Milia (HP:0001056)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Milia (HP:0001056)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Milia (HP:0001056)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Milia (HP:0001056)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Pterygium (HP:0001059)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Fragile skin (HP:0001030)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Fragile skin (HP:0001030)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Fragile skin (HP:0001030)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Skin erosion (HP:0200041)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Erythema (HP:0010783)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Skin detachment (HP:0032156)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Anemia (HP:0001903)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Ectropion (HP:0000656)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Ectropion (HP:0000656)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Congenital pyloric atresia (HP:0004399)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Stratum basale cleavage (HP:0034193)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Abnormality of the urethra (HP:0000795)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Elevated maternal circulating alpha-fetoprotein concentration (HP:0011432)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Hematuria (HP:0000790)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Aplasia cutis congenita over the scalp vertex (HP:0004471)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Tactile hypersensitivity (HP:5200061)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Atrophic, patchy alopecia (HP:0004529)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Urethrovesical occlusion (HP:0034378)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Abdominal distention (HP:0003270)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Abdominal distention (HP:0003270)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Urethral stricture (HP:0012227)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Death in infancy (HP:0001522)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Growth delay (HP:0001510)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Mitten deformity (HP:0004057)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Anonychia (HP:0001798)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Anonychia (HP:0001798)
Associated disease: Junctional epidermolysis bullosa generalisata mitis; Intermediate generalized JEB; Junctional epidermolysis bullosa, Disentis type; Intermediate generalized junctional epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa (ORPHA:79402)
Gene: ITGB4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB6
Phenotype: Split hand (HP:0001171)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Seizure (HP:0001250)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
Gene: ITGB6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
Gene: ITGB6
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
Gene: ITGB6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Dental enamel pits (HP:0009722)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
Gene: ITGB6
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Photophobia (HP:0000613)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Short stature (HP:0004322)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Anterior open-bite malocclusion (HP:0009102)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
Gene: ITGB6
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
Gene: ITGB6
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Alopecia (HP:0001596)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Growth delay (HP:0001510)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITGB6
Phenotype: Macrotia (HP:0000400)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: ITK
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Pleural effusion (HP:0002202)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)