TaoMedAI/RareMedData huggingface dataset:
Gene: MAN2C1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Sandal gap (HP:0001852)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2C1
Phenotype: Cleft earlobe (HP:0011265)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Gene: MAN2B1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Spinocerebellar tract disease in lower limbs (HP:0007232)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Motor delay (HP:0001270)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Confusion (HP:0001289)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Confusion (HP:0001289)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Ataxia (HP:0001251)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Ataxia (HP:0001251)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Spasticity (HP:0001257)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Abnormal sella turcica morphology (HP:0002679)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Hypoplastic inferior ilia (HP:0008821)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Macroglossia (HP:0000158)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Asthenia (HP:0025406)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Asthenia (HP:0025406)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Talipes valgus (HP:0004684)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Babinski sign (HP:0003487)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Gliosis (HP:0002171)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Abnormality of the sphenoid sinus (HP:0430022)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Loss of speech (HP:0002371)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Decreased circulating alpha-mannosidase activity (HP:0034712)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Facial shape deformation (HP:0011334)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Anxiety (HP:0000739)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Anxiety (HP:0000739)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Short attention span (HP:0000736)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Delusion (HP:0000746)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Delusion (HP:0000746)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Depression (HP:0000716)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Depression (HP:0000716)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Myopathy (HP:0003198)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)