TaoMedAI/RareMedData huggingface dataset:
Gene: HIRA
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Cataract (HP:0000518)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Telecanthus (HP:0000506)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Ptosis (HP:0000508)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Glaucoma (HP:0000501)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: HIRA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TWIST1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Syndactyly (HP:0001159)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Partial duplication of the distal phalanx of the 3rd finger (HP:0009968)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Partial duplication of the distal phalanx of the 2nd finger (HP:0009951)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Prominent crus of helix (HP:0009899)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Prominent crus of helix (HP:0009899)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Microtia (HP:0008551)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Microtia (HP:0008551)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Microtia (HP:0008551)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Long fingers (HP:0100807)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Seizure (HP:0001250)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: TWIST1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Skull asymmetry (HP:0002678)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Parietal foramina (HP:0002697)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Parietal foramina (HP:0002697)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Narrow palate (HP:0000189)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Cleft palate (HP:0000175)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Anal atresia (HP:0002023)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Short columella (HP:0002000)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: TWIST1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Migraine (HP:0002076)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: 2-5 toe syndactyly (HP:0010715)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: 2-4 finger cutaneous syndactyly (HP:0010709)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Headache (HP:0002315)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Open bite (HP:0010807)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Duplication of the distal phalanx of the hallux (HP:0010084)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Duplication of the distal phalanx of the hallux (HP:0010084)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Median cleft palate (HP:0009099)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Amblyopia (HP:0000646)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Blepharospasm (HP:0000643)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Broad hallux (HP:0010055)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Pansynostosis (HP:0011325)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Cleft of chin (HP:0011323)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Right unicoronal synostosis (HP:0011317)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Broad thumb (HP:0011304)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Broad thumb (HP:0011304)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Short stature (HP:0004322)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Short stature (HP:0004322)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: 2-5 finger cutaneous syndactyly (HP:0005650)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Absent first metatarsal (HP:0010104)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Narrow chest (HP:0000774)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)