TaoMedAI/RareMedData huggingface dataset:
Gene: CWC27
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Gene: CWC27
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Gene: CWC27
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CWC27
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPEG
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Long fingers (HP:0100807)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Waddling gait (HP:0002515)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Gowers sign (HP:0003391)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Difficulty running (HP:0009046)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Hip contracture (HP:0003273)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Hip contracture (HP:0003273)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Retrognathia (HP:0000278)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Retrognathia (HP:0000278)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Long face (HP:0000276)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Dysphonia (HP:0001618)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Gene: SPEG
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: SPEG
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Gene: TRAIP
Phenotype: Agonadism (HP:0008633)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Asthma (HP:0002099)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Short stature (HP:0004322)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Fetal onset (HP:0011461)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Narrow face (HP:0000275)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Long face (HP:0000276)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Microcephaly (HP:0000252)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Micrognathia (HP:0000347)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Protruding ear (HP:0000411)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SECKEL SYNDROME 9 (OMIM:616777)
Gene: TRAIP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRAIP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: TRAIP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRAIP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)