TaoMedAI/RareMedData huggingface dataset:
Gene: YARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Growth delay (HP:0001510)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Strabismus (HP:0000486)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Glaucoma (HP:0000501)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: TMX2
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Hypertonia (HP:0001276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Lissencephaly (HP:0001339)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Pachygyria (HP:0001302)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: TMX2
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Gene: NDUFA13
Phenotype: Poor speech (HP:0002465)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Poor head control (HP:0002421)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Akinesia (HP:0002304)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: NDUFA13
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 (OMIM:618249)
Gene: MRPS7
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Hepatic failure (HP:0001399)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Vomiting (HP:0002013)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Fever (HP:0001945)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: MRPS7
Phenotype: Pancytopenia (HP:0001876)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Gene: POLR1D
Phenotype: Anotia (HP:0009892)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Microtia (HP:0008551)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Microtia (HP:0008551)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Motor delay (HP:0001270)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Small scrotum (HP:0000046)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Cleft palate (HP:0000175)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Cleft palate (HP:0000175)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Wide mouth (HP:0000154)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Encephalocele (HP:0002084)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Preauricular hair displacement (HP:0009554)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Congenital onset (HP:0003577)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Aphasia (HP:0002381)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Open bite (HP:0010807)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Branchial fistula (HP:0009795)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Gene: POLR1D
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1D
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1D
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1D
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)