TaoMedAI/RareMedData huggingface dataset:
Gene: GTF2IRD1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD1
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GOSR2
Phenotype: Fetal distress (HP:0025116)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Areflexia (HP:0001284)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Areflexia (HP:0001284)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Ataxia (HP:0001251)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Ataxia (HP:0001251)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Dysarthria (HP:0001260)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Tremor (HP:0001337)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Dysphagia (HP:0002015)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Scanning speech (HP:0002168)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Frequent falls (HP:0002359)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Progressive (HP:0003676)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Memory impairment (HP:0002354)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Myoclonic status epilepticus (HP:0032667)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GOSR2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Progressive hearing impairment (HP:0001730)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Gene: GOSR2
Phenotype: Pes cavus (HP:0001761)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Gene: GDF3
Phenotype: Abnormal temporal bone morphology (HP:0009911)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Spina bifida (HP:0002414)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Synkinesis (HP:0034980)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Cervical C6/C7 vertebrae fusion (HP:6000807)
Associated disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Gene: GDF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Gene: GDF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
Gene: GDF3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Anal atresia (HP:0002023)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Cervical C5/C6 vertebrae fusion (HP:0004635)
Associated disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Gene: GDF3
Phenotype: Limitation of neck motion (HP:0005986)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
Gene: GDF3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Headache (HP:0002315)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Iris coloboma (HP:0000612)
Associated disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Gene: GDF3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF3
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)