TaoMedAI/RareMedData huggingface dataset:
Gene: IRF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Gene: IRF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
Gene: IRF6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Supernumerary maxillary incisor (HP:0006332)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Dysphagia (HP:0002015)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Nonketotic hyperglycinemia (HP:0008288)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Congenital onset (HP:0003577)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Congenital onset (HP:0003577)
Associated disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Gene: IRF6
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Fibrous syngnathia (HP:0009754)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Fibrous syngnathia (HP:0009754)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Intercrural pterygium (HP:0009757)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Pyramidal skinfold extending from the base to the top of the nails (HP:0009758)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Hypodontia (HP:0000668)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Hypodontia (HP:0000668)
Associated disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Gene: IRF6
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Dementia (HP:0000726)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Maternal teratogenic exposure (HP:0011438)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Abnormal Eustachian tube morphology (HP:0040115)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Lip pit (HP:0100267)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Lip pit (HP:0100267)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Lip pit (HP:0100267)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Macrodontia (HP:0001572)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
Gene: IRF6
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Gene: IRF6
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: IRF6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Low self-esteem (HP:0031469)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Disturbance of facial expression (HP:0005324)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: IRF6
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF6
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Autosomal dominant popliteal pterygium syndrome; Popliteal web syndrome; Facio-genito-popliteal syndrome (ORPHA:1300)
Gene: IRF6
Phenotype: Abnormal nasal septum morphology (HP:0000419)
Associated disease: Cleft lip and alveolus (ORPHA:141291)
Gene: IRF6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Isolated cleft lip (ORPHA:199302)
Gene: IRF6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Gene: IRF6
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: IRF7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 39 (OMIM:616345)
Gene: IRF7
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 39 (OMIM:616345)
Gene: IRF7
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 39 (OMIM:616345)
Gene: IRF7
Phenotype: Severe influenza infection (HP:0034249)
Associated disease: IMMUNODEFICIENCY 39 (OMIM:616345)
Gene: IRS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS1
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS1
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IRS1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: ISL1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Epispadias (HP:0000039)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Abnormal clitoris morphology (HP:0000056)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ISL1
Phenotype: Bladder exstrophy (HP:0002836)
Associated disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Gene: ITGA2
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Melena (HP:0002249)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Neonatal alloimmune thrombocytopenia (HP:0004809)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Blindness (HP:0000618)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Hematuria (HP:0000790)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Purpura (HP:0000979)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Petechiae (HP:0000967)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2
Phenotype: Cephalohematoma (HP:0012541)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Platelet anisocytosis (HP:0032438)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Gene: ITGA2B
Phenotype: Impaired clot retraction (HP:0031126)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Impaired collagen-related peptide-induced platelet aggregation (HP:0031128)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Menorrhagia (HP:0000132)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Menorrhagia (HP:0000132)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGA2B
Phenotype: Impaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Impaired thrombin-induced platelet aggregation (HP:0011872)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGA2B
Phenotype: Abnormal platelet count (HP:0011873)
Associated disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Gene: ITGA2B
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)