TaoMedAI/RareMedData huggingface dataset:
Gene: SIK1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: SIK1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: SIK1
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Death in infancy (HP:0001522)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 (OMIM:616341)
Gene: SIK1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: SIK1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SIK1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: SIK1
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: HSCB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: HSCB
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: HSCB
Phenotype: Refractory anemia with ringed sideroblasts (HP:0004828)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: HSCB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: HSCB
Phenotype: Reduced hematocrit (HP:0031851)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: HSCB
Phenotype: Anemia (HP:0001903)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: HSCB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: HSCB
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Gene: MEI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 3 (OMIM:618431)
Gene: MEI1
Phenotype: Female infertility (HP:0008222)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 3 (OMIM:618431)
Gene: MEI1
Phenotype: Hydatidiform mole (HP:0032192)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 3 (OMIM:618431)
Gene: MEI1
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 3 (OMIM:618431)
Gene: CKAP2L
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Seizure (HP:0001250)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Seizure (HP:0001250)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Hypotonia (HP:0001252)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Spasticity (HP:0001257)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Dystonia (HP:0001332)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Paraplegia (HP:0010550)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Echolalia (HP:0010529)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: 2-4 toe syndactyly (HP:0010714)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Severe short stature (HP:0003510)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Aphasia (HP:0002381)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Broad columella (HP:0010761)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Low hanging columella (HP:0009765)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Mutism (HP:0002300)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Microdontia (HP:0000691)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Hypodontia (HP:0000668)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Decreased body weight (HP:0004325)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Short stature (HP:0004322)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Serrated incisors (HP:0034270)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Sparse hair (HP:0008070)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Microcephaly (HP:0000252)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Microcephaly (HP:0000252)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CKAP2L
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Gene: CKAP2L
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: FILIPPI SYNDROME (OMIM:272440)
Gene: CKAP2L
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CKAP2L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FILIPPI SYNDROME (OMIM:272440)