TaoMedAI/RareMedData huggingface dataset:
Gene: DOLK
Phenotype: Strabismus (HP:0000486)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Visual impairment (HP:0000505)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: ANKRD26
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Gene: ANKRD26
Phenotype: Abnormal platelet volume (HP:0011876)
Associated disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Gene: ANKRD26
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Gene: ANKRD26
Phenotype: Increased megakaryocyte colony forming unit count (HP:0034010)
Associated disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Gene: ANKRD26
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Gene: ANKRD26
Phenotype: Abnormal platelet shape (HP:0012524)
Associated disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Gene: ANKRD26
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 2 (OMIM:188000)
Gene: NTNG1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Panic attack (HP:0025269)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Seizure (HP:0001250)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Spasticity (HP:0001257)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Abnormal muscle tone (HP:0003808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Pill-rolling tremor (HP:0025387)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Dystonia (HP:0001332)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Tremor (HP:0001337)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Hand apraxia (HP:0032588)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Apraxia (HP:0002186)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Loss of speech (HP:0002371)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Small hand (HP:0200055)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Mutism (HP:0002300)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Agitation (HP:0000713)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Growth delay (HP:0001510)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Short foot (HP:0001773)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: NTNG1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: CHSY1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Syndactyly (HP:0001159)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Poor speech (HP:0002465)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Partial duplication of the proximal phalanx of the 3rd finger (HP:0009970)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Complete duplication of the middle phalanx of the 3rd finger (HP:0009966)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Duplication of thumb phalanx (HP:0009942)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Proximal symphalangism of hands (HP:0006152)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Cleft palate (HP:0000175)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Complete duplication of proximal phalanx of the thumb (HP:0009608)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Short palm (HP:0004279)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Diastema (HP:0000699)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Oligodontia (HP:0000677)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Tooth malposition (HP:0000692)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Microdontia (HP:0000691)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Microdontia (HP:0000691)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Synophrys (HP:0000664)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short stature (HP:0004322)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short hallux (HP:0010109)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short nose (HP:0003196)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Tibial deviation of the 5th toe (HP:0100347)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Tibial deviation of the 2nd toe (HP:0100345)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Clinodactyly of the 2nd finger (HP:0040022)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Synostosis of carpals/tarsals (HP:0100266)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Abnormal spaced incisors (HP:0040159)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)