TaoMedAI/RareMedData huggingface dataset:
Gene: RHBDF2
Phenotype: Abnormal esophagus physiology (HP:0025270)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)
Gene: RHBDF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)
Gene: RHBDF2
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)
Gene: RHBDF2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Poor suck (HP:0002033)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Abnormal large intestine morphology (HP:0002250)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Parakeratosis (HP:0001036)
Associated disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)
Gene: RHBDF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)
Gene: RHBDF2
Phenotype: Poor appetite (HP:0004396)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)
Gene: RHBDF2
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Ascites (HP:0001541)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: RHBDF2
Phenotype: Weight loss (HP:0001824)
Associated disease: Palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Tylosis-oesophageal carcinoma syndrome; Keratosis palmoplantaris-esophageal carcinoma syndrome; Howell-Evans syndrome; Palmoplantar keratoderma-esophageal carcinoma syndrome (ORPHA:2198)
Gene: DYNC2H1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
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: DYNC2H1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Urethrovaginal fistula (HP:0008716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
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: DYNC2H1
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
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: DYNC2H1
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: DYNC2H1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
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: DYNC2H1
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Anal atresia (HP:0002023)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Acetabular spurs (HP:0010454)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Short digit (HP:0011927)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Bifid epiglottis (HP:0010564)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Absent tibia (HP:0009556)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Short palm (HP:0004279)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Short stature (HP:0004322)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
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: DYNC2H1
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
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: DYNC2H1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)