TaoMedAI/RareMedData huggingface dataset:
Gene: PTRH2
Phenotype: Ataxia (HP:0001251)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Dysmetria (HP:0001310)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Hyperechogenic pancreas (HP:0006276)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Skeletal muscle fibrosis (HP:0030951)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Skeletal muscle fibrosis (HP:0030951)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Ulnar deviation of the 3rd finger (HP:0009463)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Ulnar deviation of the 3rd finger (HP:0009463)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Short stature (HP:0004322)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Cerebellar hemisphere hypoplasia (HP:0100307)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Abnormal liver parenchyma morphology (HP:0030146)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Abnormal midface morphology (HP:0000309)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: PTRH2
Phenotype: Abnormal hallux morphology (HP:0001844)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Exotropia (HP:0000577)
Associated disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Gene: PTRH2
Phenotype: Exotropia (HP:0000577)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Gene: GINS2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GINS2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GINS2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MPC1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)