TaoMedAI/RareMedData huggingface dataset:
Gene: SOBP
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Short attention span (HP:0000736)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Psychosis (HP:0000709)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Visual impairment (HP:0000505)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: SOBP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
Gene: ANO1
Phenotype: Stroke (HP:0001297)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Projectile vomiting (HP:0002587)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Diarrhea (HP:0002014)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Migraine (HP:0002076)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Adult onset (HP:0003581)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Headache (HP:0002315)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Decreased intestinal transit time (HP:0030897)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Pes valgus (HP:0008081)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: High palate (HP:0000218)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Posterior cerebral artery stenosis (HP:0012495)
Associated disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Gene: ANO1
Phenotype: Cataract (HP:0000518)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: ANO1
Phenotype: Weight loss (HP:0001824)
Associated disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Gene: AGGF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Tall stature (HP:0000098)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Cellulitis (HP:0100658)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Hematuria (HP:0000790)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Edema (HP:0000969)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Ascites (HP:0001541)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: AGGF1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: DYNC2I1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Syndactyly (HP:0001159)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Urethrovaginal fistula (HP:0008716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Acetabular spurs (HP:0010454)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Bifid epiglottis (HP:0010564)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Short palm (HP:0004279)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Short stature (HP:0004322)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Abnormal pelvis bone ossification (HP:0009106)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I1
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Short ribs (HP:0000773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY (OMIM:615503)
Gene: DYNC2I1
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)