TaoMedAI/RareMedData huggingface dataset:
Gene: SERPINA6
Phenotype: Hypotension (HP:0002615)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Asthenia (HP:0025406)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Reduced circulating cortisol-binding globulin concentration (HP:6000243)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Adult onset (HP:0003581)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Anemia (HP:0001903)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Hypertension (HP:0000822)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Fatigue (HP:0012378)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Decreased urinary potassium (HP:0012364)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Hypokalemia (HP:0002900)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: CBL
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Hypotonia (HP:0001252)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: CBL
Phenotype: Bone pain (HP:0002653)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Hypotension (HP:0002615)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Osteolysis (HP:0002797)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Flushing (HP:0031284)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: CBL
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Poor suck (HP:0002033)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Diarrhea (HP:0002014)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Anorexia (HP:0002039)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Infantile onset (HP:0003593)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Fine hair (HP:0002213)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Coarse hair (HP:0002208)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Lymphedema (HP:0001004)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Lymphedema (HP:0001004)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Urticaria (HP:0001025)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Abdominal cramps (HP:0032155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Nystagmus (HP:0000639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Blue irides (HP:0000635)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Leukemia (HP:0001909)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Anemia (HP:0001903)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Short stature (HP:0004322)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Elevated total serum tryptase (HP:0031901)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Short attention span (HP:0000736)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Chylothorax (HP:0010310)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Pruritus (HP:0000989)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Osteopenia (HP:0000938)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Sparse hair (HP:0008070)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Epicanthus (HP:0000286)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Retrognathia (HP:0000278)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Increased proportion of CD25+ mast cells (HP:0031408)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Arthralgia (HP:0002829)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Microcephaly (HP:0000252)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Juvenile myelomonocytic leukemia (HP:0012209)
Associated disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Gene: CBL
Phenotype: High palate (HP:0000218)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Ascites (HP:0001541)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)