TaoMedAI/RareMedData huggingface dataset:
Gene: SFRP4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Craniofacial osteosclerosis (HP:0005464)
Associated disease: Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease; Pyle disease (ORPHA:3005)
Gene: SFRP4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SFRP4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SFRP4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRSF2
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Syncope (HP:0001279)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Lymphoma (HP:0002665)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Bone pain (HP:0002653)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Bone pain (HP:0002653)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Hypotension (HP:0002615)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Hypotension (HP:0002615)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Granulocytic hyperplasia (HP:0012138)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Flushing (HP:0031284)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Flushing (HP:0031284)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Nausea (HP:0002018)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Myalgia (HP:0003326)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Anorexia (HP:0002039)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Urticaria (HP:0001025)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Urticaria (HP:0001025)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Headache (HP:0002315)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Abdominal cramps (HP:0032155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Increased total basophil count (HP:0031807)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Chronic lymphatic leukemia (HP:0005550)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Fever (HP:0001945)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Leukemia (HP:0001909)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Anemia (HP:0001903)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Elevated total serum tryptase (HP:0031901)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Elevated total serum tryptase (HP:0031901)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Pallor (HP:0000980)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Pruritus (HP:0000989)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Pruritus (HP:0000989)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Increased proportion of CD25+ mast cells (HP:0031408)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Ascites (HP:0001541)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Fatigue (HP:0012378)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Fatigue (HP:0012378)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Myeloid leukemia (HP:0012324)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Chronic myelomonocytic leukemia (HP:0012325)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Tachycardia (HP:0001649)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Multiple myeloma (HP:0006775)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Weight loss (HP:0001824)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Weight loss (HP:0001824)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: SRSF2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SRSF2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SFTPB
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Sepsis (HP:0100806)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Clubbing (HP:0001217)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Neonatal death (HP:0003811)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Hypotension (HP:0002615)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Tachypnea (HP:0002789)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Tachypnea (HP:0002789)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Tachypnea (HP:0002789)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Misalignment of the pulmonary veins (HP:0033186)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Dyspnea (HP:0002094)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Pneumonia (HP:0002090)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Desquamative interstitial pneumonitis (HP:0005942)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Apnea (HP:0002104)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Spontaneous neonatal pneumothorax (HP:0004876)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Atelectasis (HP:0100750)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Nasal flaring (HP:0030863)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Interlobular septal thickening (HP:0030879)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Cyanosis (HP:0000961)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Cyanosis (HP:0000961)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Death in infancy (HP:0001522)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Gene: SFTPB
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Gene: SFTPB
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Pediatric ARDS; PARDS; Pediatric acute respiratory distress syndrome (ORPHA:685082)
Gene: SFTPB
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Neonatal RDS; Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)