TaoMedAI/RareMedData huggingface dataset:
Gene: SKI
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Telangiectasia (HP:0001009)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: EEG abnormality (HP:0002353)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: High hypermetropia (HP:0008499)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Short metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Nystagmus (HP:0000639)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Short stature (HP:0004322)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Macule (HP:0012733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Autism (HP:0000717)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Atypical behavior (HP:0000708)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Narrow chest (HP:0000774)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Myopathy (HP:0003198)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Missing ribs (HP:0000921)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Protrusio acetabuli (HP:0003179)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Rib fusion (HP:0000902)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Bifid ribs (HP:0000892)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Thin ribs (HP:0000883)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Hypertension (HP:0000822)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SKI
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: SKI
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Soft skin (HP:0000977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: SKI
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Thin skin (HP:0000963)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: SKI
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: SKI
Phenotype: Osteopenia (HP:0000938)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Osteopenia (HP:0000938)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)
Gene: SKI
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: SKI
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: SKI
Phenotype: Inferior oblique muscle overaction (HP:0025599)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Epicanthus (HP:0000286)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: SKI
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Hypertropia (HP:0025586)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: SKI
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SKI
Phenotype: Retrognathia (HP:0000278)
Associated disease: Shprintzen-Goldberg syndrome; SGS; Marfanoid craniosynostosis syndrome (ORPHA:2462)