TaoMedAI/RareMedData huggingface dataset:
Gene: ALPK3
Phenotype: Second trimester onset (HP:0034198)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: ALPK3
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 (OMIM:618052)
Gene: WDR35
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Syndactyly (HP:0001159)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Syndactyly (HP:0001159)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Simple ear (HP:0020206)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
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: WDR35
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Urethrovaginal fistula (HP:0008716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Cholestasis (HP:0001396)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Hypospadias (HP:0000047)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
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: WDR35
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Cleft palate (HP:0000175)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Cleft palate (HP:0000175)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Renal cyst (HP:0000107)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Renal cyst (HP:0000107)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Renal cyst (HP:0000107)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Anal atresia (HP:0002023)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Polydactyly (HP:0010442)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Polydactyly (HP:0010442)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Bifid epiglottis (HP:0010564)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Fine hair (HP:0002213)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Short uvula (HP:0010812)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: High hypermetropia (HP:0008499)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Short palm (HP:0004279)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Nystagmus (HP:0000639)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Nystagmus (HP:0000639)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Taurodontia (HP:0000679)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Microdontia (HP:0000691)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Microdontia (HP:0000691)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Microdontia (HP:0000691)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Hypodontia (HP:0000668)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
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: WDR35
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Mesomelia (HP:0003027)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Mesomelia (HP:0003027)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
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: WDR35
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Narrow chest (HP:0000774)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Narrow chest (HP:0000774)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Narrow chest (HP:0000774)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Short ribs (HP:0000773)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Short ribs (HP:0000773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)