TaoMedAI/RareMedData huggingface dataset:
Gene: ADAMTS17
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Phakodonesis (HP:0012629)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Short stature (HP:0004322)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Short stature (HP:0004322)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: High myopia (HP:0011003)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: High myopia (HP:0011003)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Cataract (HP:0000518)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Glaucoma (HP:0000501)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Glaucoma (HP:0000501)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Visual loss (HP:0000572)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS18
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Wide nose (HP:0000445)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Telecanthus (HP:0000506)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: ADAMTS18
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADAMTS18
Phenotype: Myopia (HP:0000545)
Associated disease: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
Gene: GSX2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Dystonia (HP:0001332)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Absent speech (HP:0001344)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Hypoplasia of the olfactory bulb (HP:0040326)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Decreased thalamic volume (HP:0012695)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: GSX2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 (OMIM:618646)
Gene: ADAMTS19
Phenotype: Left ventricular diastolic dysfunction (HP:0025168)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Chest pain (HP:0100749)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Central cyanosis (HP:0034032)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Dysplastic aortic valve (HP:0005176)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Heart murmur (HP:0030148)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ADAMTS19
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Gene: ASXL1
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Broad palm (HP:0001169)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Tapered finger (HP:0001182)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Syncope (HP:0001279)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Seizure (HP:0001250)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Seizure (HP:0001250)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Thick hair (HP:0100874)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Metacarpophalangeal joint contracture (HP:0006070)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Urinary retention (HP:0000016)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Lymphoma (HP:0002665)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Bone pain (HP:0002653)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Bone pain (HP:0002653)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Hypotension (HP:0002615)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Hypotension (HP:0002615)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Narrow palate (HP:0000189)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Granulocytic hyperplasia (HP:0012138)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Mesomelic/rhizomelic limb shortening (HP:0005026)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)