TaoMedAI/RareMedData huggingface dataset:
Gene: SMARCAL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Migraine (HP:0002076)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Fine hair (HP:0002213)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Coarse hair (HP:0002208)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Aphasia (HP:0002381)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Headache (HP:0002315)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Arteriosclerosis of small cerebral arteries (HP:0004931)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Fever (HP:0001945)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Anemia (HP:0001903)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Anemia (HP:0001903)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Microdontia (HP:0000691)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Microdontia (HP:0000691)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Short stature (HP:0004322)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Macule (HP:0012733)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Hypertension (HP:0000822)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Hypertension (HP:0000822)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Abnormal lymphocyte physiology (HP:0031409)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Lateral displacement of the femoral head (HP:0006453)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Growth delay (HP:0001510)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Growth delay (HP:0001510)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Abnormality of thyroid physiology (HP:0002926)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Triangular face (HP:0000325)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Premature birth (HP:0001622)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Severe T-cell immunodeficiency (HP:0005352)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Astigmatism (HP:0000483)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Short neck (HP:0000470)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Short neck (HP:0000470)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Nephrotic range proteinuria (HP:0012593)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Myopia (HP:0000545)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: DUOX2
Phenotype: Lethargy (HP:0001254)
Associated disease: Genetic transient congenital hypothyroidism (ORPHA:226316)
Gene: DUOX2
Phenotype: Lethargy (HP:0001254)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Genetic transient congenital hypothyroidism (ORPHA:226316)
Gene: DUOX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOX2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOX2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOX2
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: DUOX2
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Genetic transient congenital hypothyroidism (ORPHA:226316)
Gene: DUOX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID DYSHORMONOGENESIS 6 (OMIM:607200)