TaoMedAI/RareMedData huggingface dataset:
Gene: CHSY1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Proximal radio-ulnar synostosis (HP:0005037)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Growth delay (HP:0001510)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Talon cusp (HP:0011087)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Talon cusp (HP:0011087)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Round face (HP:0000311)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Short foot (HP:0001773)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Abnormal digit morphology (HP:0011297)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Abnormal lens morphology (HP:0000517)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CHSY1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Gene: CHSY1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Gene: CHSY1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CHSY1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Syndactyly (HP:0001159)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Small scrotum (HP:0000046)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Hypospadias (HP:0000047)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Bowed forearm bones (HP:0003956)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Focal polymicrogyria (HP:0032471)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Fibular bowing (HP:0010502)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Median cleft palate (HP:0009099)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Natal tooth (HP:0000695)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Gene: CILK1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Narrow chest (HP:0000774)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Sex reversal (HP:0012245)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Micromelia (HP:0002983)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Juvenile myoclonus epilepsy; Juvenile myoclonic epilepsy; JME (ORPHA:307)
Gene: CILK1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Microphallus (HP:0030260)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Sandal gap (HP:0001852)
Associated disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Gene: CILK1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CILK1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CILK1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADGRL1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Gene: ADGRL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)