TaoMedAI/RareMedData huggingface dataset:
Gene: EFNB1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Short neck (HP:0000470)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Webbed neck (HP:0000465)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Midline defect of the nose (HP:0004122)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Sandal gap (HP:0001852)
Associated disease: CFNS; CFND; Craniofrontonasal dysplasia; Craniofrontonasal syndrome (ORPHA:1520)
Gene: EFNB1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFNB1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Telecanthus (HP:0000506)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Split nail (HP:0001809)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Fragile nails (HP:0001808)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Ridged nail (HP:0001807)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Exotropia (HP:0000577)
Associated disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Gene: EFNB1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFNB1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EGF
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMAGNESEMIA 4, RENAL (OMIM:611718)
Gene: EGF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOMAGNESEMIA 4, RENAL (OMIM:611718)
Gene: EGF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOMAGNESEMIA 4, RENAL (OMIM:611718)
Gene: EGF
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: HYPOMAGNESEMIA 4, RENAL (OMIM:611718)
Gene: EGF
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOMAGNESEMIA 4, RENAL (OMIM:611718)
Gene: MEGF8
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Syndactyly (HP:0001159)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Narrow naris (HP:0009933)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Tall stature (HP:0000098)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Micropenis (HP:0000054)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Bilateral postaxial polydactyly (HP:0006136)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Narrow palate (HP:0000189)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Polydactyly (HP:0010442)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Short digit (HP:0011927)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Congenital onset (HP:0003577)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Short palm (HP:0004279)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Carious teeth (HP:0000670)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Broad thumb (HP:0011304)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Broad thumb (HP:0011304)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Aplasia of the middle phalanx of the hand (HP:0010239)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Epicanthus (HP:0000286)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Epicanthus (HP:0000286)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Retrognathia (HP:0000278)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Oxycephaly (HP:0000263)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Oxycephaly (HP:0000263)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Turricephaly (HP:0000262)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Narrow face (HP:0000275)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Abnormal reproductive system morphology (HP:0012243)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Coxa vara (HP:0002812)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: High palate (HP:0000218)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Genu valgum (HP:0002857)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Obesity (HP:0001513)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Obesity (HP:0001513)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Low-set ears (HP:0000369)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Long philtrum (HP:0000343)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Gene: MEGF8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEGF8
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CARPENTER SYNDROME 2 (OMIM:614976)
Gene: MEGF8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEGF8
Phenotype: Strabismus (HP:0000486)
Associated disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)