| D008297 |
Male |
|
Males |
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| D009085 |
Mucopolysaccharidosis IV |
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. |
Eccentro-Osteochondrodysplasia,Morquio's Disease,Eccentroosteochondrodysplasia,GALNS Deficiency,Galactosamine-6-Sulfatase Deficiency,MPS IV A,MPS IV B,MPS IVA,MPS IVB,Morquio A Disease,Morquio B Syndrome,Morquio Disease,Morquio Syndrome,Morquio Syndrome A,Morquio Syndrome B,Morquio Syndrome, Type B,Morquio's Disease Type B,Morquio's Syndrome,Morquio-B Disease,Mucopolysaccharidosis 4,Mucopolysaccharidosis 4B,Mucopolysaccharidosis Type IV,Mucopolysaccharidosis Type IV A,Mucopolysaccharidosis Type IV B,Mucopolysaccharidosis Type IVA,Mucopolysaccharidosis Type IVB,Deficiencies, GALNS,Deficiencies, Galactosamine-6-Sulfatase,Deficiency, GALNS,Deficiency, Galactosamine-6-Sulfatase,Disease, Morquio,Disease, Morquio A,Disease, Morquio's,Disease, Morquio-B,Eccentro Osteochondrodysplasia,Eccentro-Osteochondrodysplasias,Eccentroosteochondrodysplasias,GALNS Deficiencies,Galactosamine 6 Sulfatase Deficiency,Galactosamine-6-Sulfatase Deficiencies,IV, Mucopolysaccharidosis Type,IVs, Mucopolysaccharidosis Type,Morquio B Disease,Morquio Syndromes,Morquios Disease,Morquios Syndrome,Mucopolysaccharidosis 4Bs,Mucopolysaccharidosis Type IVBs,Mucopolysaccharidosis Type IVs,Syndrome A, Morquio,Syndrome, Morquio,Syndrome, Morquio B,Syndrome, Morquio's,Syndromes, Morquio,Type IV, Mucopolysaccharidosis,Type IVs, Mucopolysaccharidosis |
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| D009216 |
Myopia |
A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. |
Nearsightedness,Myopias,Nearsightednesses |
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| D011859 |
Radiography |
Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). |
Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic |
|
| D001848 |
Bone Diseases, Developmental |
Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. |
Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone |
|
| D002648 |
Child |
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. |
Children |
|
| D002869 |
Chromosome Aberrations |
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. |
Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality |
|
| D003394 |
Craniofacial Dysostosis |
Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia. |
Crouzon's Disease,Dysostosis, Craniofacial,Craniofacial Dysarthrosis,Craniofacial Dysostosis Syndrome,Craniofacial Dysostosis Type 1,Craniofacial Dysostosis, Type I,Crouzon Craniofacial Dysostosis,Crouzon Disease,Crouzon Syndrome,Craniofacial Dysarthroses,Craniofacial Dysostoses,Craniofacial Dysostosis Syndromes,Craniofacial Dysostosis, Crouzon,Crouzons Disease,Dysarthroses, Craniofacial,Dysarthrosis, Craniofacial,Dysostoses, Craniofacial |
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| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
|
| D004392 |
Dwarfism |
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. |
Nanism |
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