TaoMedAI/RareMedData huggingface dataset:
Gene: SDHD
Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Tinnitus (HP:0000360)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHD
Phenotype: Loss of voice (HP:0001686)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Tachycardia (HP:0001649)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Heart murmur (HP:0030148)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Lack of bowel sounds (HP:0030145)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Night sweats (HP:0030166)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Right ventricular failure (HP:0001708)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Glomus tympanicum paraganglioma (HP:0006715)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Small intestine carcinoid (HP:0006722)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Intestinal carcinoid (HP:0006723)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Atypical pulmonary carcinoid tumor (HP:0030446)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Weight loss (HP:0001824)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Weight loss (HP:0001824)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHD
Phenotype: Visual impairment (HP:0000505)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHD
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: TRAPPC2
Phenotype: Finger swelling (HP:0025131)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Stiff knee (HP:0025263)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Short femoral neck (HP:0100864)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Spurred metaphyses of the upper limbs (HP:0003855)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Abnormality of the tibial plateaux (HP:0003832)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Joint swelling (HP:0001386)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Osteoarthritis of the distal interphalangeal joint (HP:0006233)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Abnormal cartilage morphology (HP:0002763)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Decreased cervical spine mobility (HP:0004637)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Back pain (HP:0003418)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Back pain (HP:0003418)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Dysplasia of the femoral head (HP:0010575)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Abnormal lumbar spine morphology (HP:0100712)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Synovitis (HP:0100769)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Abnormal epiphyseal ossification (HP:0010656)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Limb pain (HP:0009763)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Enlarged metaphyses (HP:0003051)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Increased arm span (HP:0012771)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Multiple skeletal anomalies (HP:0005775)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Enlarged epiphyses of the phalanges of the hand (HP:0010231)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAPPC2
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Knee pain (HP:0030839)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Hump-shaped mound of bone in central and posterior portions of vertebral endplate (HP:0004594)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Hump-shaped mound of bone in central and posterior portions of vertebral endplate (HP:0004594)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Gene: TRAPPC2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Localized osteoporosis (HP:0040161)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAPPC2
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Gene: TRAPPC2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)