TaoMedAI/RareMedData huggingface dataset:
Gene: NXN
Phenotype: Low-set ears (HP:0000369)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Long philtrum (HP:0000343)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Long philtrum (HP:0000343)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: High forehead (HP:0000348)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Micrognathia (HP:0000347)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Micrognathia (HP:0000347)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Short philtrum (HP:0000322)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Strabismus (HP:0000486)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Short neck (HP:0000470)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Long eyelashes (HP:0000527)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Sandal gap (HP:0001852)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Sandal gap (HP:0001852)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NXN
Phenotype: Proptosis (HP:0000520)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Gene: NXN
Phenotype: Proptosis (HP:0000520)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Ptosis (HP:0000508)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Blue sclerae (HP:0000592)
Associated disease: RRS; COVESDEM syndrome; Autosomal recessive Robinow syndrome; Costovertebral segmentation defect-mesomelia syndrome (ORPHA:1507)
Gene: NXN
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NXN
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SIL1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Areflexia (HP:0001284)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Ataxia (HP:0001251)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Ataxia (HP:0001251)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Spasticity (HP:0001257)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Spasticity (HP:0001257)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Rigidity (HP:0002063)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Short palm (HP:0004279)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Short stature (HP:0004322)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Myopathy (HP:0003198)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Myopathy (HP:0003198)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Strabismus (HP:0000486)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Strabismus (HP:0000486)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Pes planus (HP:0001763)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: SIL1
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Cataract (HP:0000518)
Associated disease: Marinesco-Sjögren syndrome (ORPHA:559)
Gene: SIL1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MARINESCO-SJOGREN SYNDROME (OMIM:248800)
Gene: IKZF5
Phenotype: Reduced platelet alpha granules (HP:0033536)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Reduced platelet dense granules (HP:0033535)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: IKZF5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Gene: GREM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
Gene: GREM2
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Taurodontia (HP:0000679)
Associated disease: TOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
Gene: GREM2
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Microdontia (HP:0000691)
Associated disease: TOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
Gene: GREM2
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: TOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
Gene: GREM2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: GREM2
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: ARAP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ARAP3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)