TaoMedAI/RareMedData huggingface dataset:
Gene: ITGAM
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGAM
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ITGB2
Phenotype: Recurrent staphylococcal infections (HP:0007499)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Delayed umbilical cord separation (HP:0032434)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Hyperfibrinogenemia (HP:0011899)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Poor wound healing (HP:0001058)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Periodontitis (HP:0000704)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Gingivitis (HP:0000230)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Rectal abscess (HP:0005224)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Recurrent gram-negative bacterial infections (HP:0005420)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB2
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Gene: ITGB3
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Platelet anisocytosis (HP:0032438)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Impaired clot retraction (HP:0031126)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Impaired collagen-related peptide-induced platelet aggregation (HP:0031128)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Menorrhagia (HP:0000132)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Menorrhagia (HP:0000132)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Impaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Increased mean platelet volume (HP:0011877)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Impaired thrombin-induced platelet aggregation (HP:0011872)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Melena (HP:0002249)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Neonatal alloimmune thrombocytopenia (HP:0004809)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Decreased platelet glycoprotein IIb-IIIa (HP:0001975)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Blindness (HP:0000618)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Menometrorrhagia (HP:0400008)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Hematuria (HP:0000790)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Purpura (HP:0000979)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Purpura (HP:0000979)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Petechiae (HP:0000967)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Epistaxis (HP:0000421)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Glanzmann thrombasthenia (ORPHA:849)
Gene: ITGB3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Gene: ITGB3
Phenotype: Cephalohematoma (HP:0012541)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: ITGB3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Gene: ITGB4
Phenotype: Microtia (HP:0008551)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Acral blistering (HP:0031045)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Congenital localized absence of skin (HP:0007383)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Renal duplication (HP:0000075)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Renal duplication (HP:0000075)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Ureterocele (HP:0000070)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Ureterocele (HP:0000070)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: ITGB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Premature loss of permanent teeth (HP:0006357)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Enamel hypoplasia (HP:0006297)
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: Enamel hypoplasia (HP:0006297)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)
Gene: ITGB4
Phenotype: Skin fragility with non-scarring blistering (HP:0007585)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Aplasia cutis congenita on trunk or limbs (HP:0007589)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Aplasia cutis congenita on trunk or limbs (HP:0007589)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Vomiting (HP:0002013)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Lamina lucida cleavage (HP:0003341)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Urinary bladder inflammation (HP:0100577)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Aplasia of the bladder (HP:0010477)
Associated disease: JEB-PA; Junctional epidermolysis bullosa with pyloric atresia; JEB with pyloric atresia; Carmi syndrome (ORPHA:79403)
Gene: ITGB4
Phenotype: Aplasia of the bladder (HP:0010477)
Associated disease: EBS-PA; Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia (ORPHA:158684)
Gene: ITGB4
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Congenital onset (HP:0003577)
Associated disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Gene: ITGB4
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Gene: ITGB4
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: JEB-nH loc; Localized junctional epidermolysis bullosa; Localized JEB; Junctional epidermolysis bullosa, non-Herlitz localized type (ORPHA:251393)