TaoMedAI/RareMedData huggingface dataset:
Gene: MAN2B1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Thickened ribs (HP:0000900)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Reduced leukocyte alpha-mannosidase activity (HP:4000190)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Soft skin (HP:0000977)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Genu valgum (HP:0002857)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Growth delay (HP:0001510)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Flat face (HP:0012368)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Otitis media (HP:0000388)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Broad forehead (HP:0000337)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Macrotia (HP:0000400)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Strabismus (HP:0000486)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Short neck (HP:0000470)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Flat occiput (HP:0005469)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Cataract (HP:0000518)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Cataract (HP:0000518)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Proptosis (HP:0000520)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAN2B1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAN2B1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Gene: MAN2B1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MAN2B1
Phenotype: Myopia (HP:0000545)
Associated disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Gene: MAN2B1
Phenotype: Myopia (HP:0000545)
Associated disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Gene: MANBA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Seizure (HP:0001250)
Associated disease: Beta-mannosidase deficiency; Beta-mannosidosis (ORPHA:118)
Gene: MANBA
Phenotype: Seizure (HP:0001250)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Beta-mannosidase deficiency; Beta-mannosidosis (ORPHA:118)
Gene: MANBA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Increased urinary disaccharide excretion (HP:0012066)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Infantile onset (HP:0003593)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Beta-mannosidase deficiency; Beta-mannosidosis (ORPHA:118)
Gene: MANBA
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Angiokeratoma (HP:0001014)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Beta-mannosidase deficiency; Beta-mannosidosis (ORPHA:118)
Gene: MANBA
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Reduced tissue beta-mannosidase activity (HP:4000205)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Decreased circulating beta-mannosidase activity (HP:0034367)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)