TaoMedAI/RareMedData huggingface dataset:
Gene: ESCO2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Stillbirth (HP:0003826)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Long penis (HP:0000040)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Long penis (HP:0000040)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Hypospadias (HP:0000047)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Cavernous hemangioma of the face (HP:0007486)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Midface capillary hemangioma (HP:0007452)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Midface capillary hemangioma (HP:0007452)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Abnormality of the radial head (HP:0003995)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Aplasia of the ulna (HP:0003982)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Absent radius (HP:0003974)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Mesomelic arm shortening (HP:0005011)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Abnormal abdomen morphology (HP:0001438)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Phocomelia (HP:0009829)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Phocomelia (HP:0009829)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Absent thumb (HP:0009777)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Short thumb (HP:0009778)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Premature separation of centromeric heterochromatin (HP:0003616)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Short stature (HP:0004322)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Short humerus (HP:0005792)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Tetraphocomelia (HP:0030721)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Progressive flexion contractures (HP:0005876)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Sparse hair (HP:0008070)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Sparse hair (HP:0008070)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Finger aplasia (HP:0009380)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Malar flattening (HP:0000272)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Malar flattening (HP:0000272)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: High palate (HP:0000218)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: High palate (HP:0000218)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Absent earlobe (HP:0000387)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Absent earlobe (HP:0000387)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)