TaoMedAI/RareMedData huggingface dataset:
Gene: MESP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Abnormal odontoid process morphology (HP:0003310)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Block vertebrae (HP:0003305)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Back pain (HP:0003418)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Fetal onset (HP:0011461)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Rib fusion (HP:0000902)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Rib fusion (HP:0000902)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Rib fusion (HP:0000902)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Short thorax (HP:0010306)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Death in infancy (HP:0001522)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTBK2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Dystonia (HP:0001332)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: TTBK2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Gene: TTBK2
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Gene: CDAN1
Phenotype: Syndactyly (HP:0001159)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Endopolyploidy on chromosome studies of bone marrow (HP:0003352)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Reduced level of N-acetylglucosaminyltransferase II (HP:0003655)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Bite cells (HP:0020122)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Macrocytic dyserythropoietic anemia (HP:0005532)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: CDAN1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Gene: SLC38A8
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Axenfeld anomaly (HP:0001492)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Infantile onset (HP:0003593)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Nystagmus (HP:0000639)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Foveal hyperpigmentation (HP:0008001)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Optic nerve misrouting (HP:0025551)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Astigmatism (HP:0000483)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Strabismus (HP:0000486)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: SLC38A8
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Gene: OTOA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 22 (OMIM:607039)
Gene: OTOA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 22 (OMIM:607039)
Gene: CARMIL2
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Cold urticaria (HP:0410135)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)
Gene: CARMIL2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 58 (OMIM:618131)