Condition | Indicated | Relationship Strength | Studies | Trials |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans [description not available] | 0 | 14.41 | 31 | 20 |
Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. | 0 | 3.43 | 2 | 0 |
Achondroplasia An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) | 0 | 14.41 | 31 | 20 |
Body Weight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. | 0 | 3.23 | 1 | 0 |
Stunted Growth [description not available] | 0 | 2.31 | 1 | 0 |
Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth. | 0 | 2.31 | 1 | 0 |
Infusion Site Adverse Event [description not available] | 0 | 3.64 | 1 | 1 |
Bone Diseases, Developmental Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. | 0 | 2.31 | 1 | 0 |
Acrocephaly Premature closing of the lambdoid and coronal sutures. | 0 | 3.09 | 1 | 0 |
Craniofacial Dysarthrosis [description not available] | 0 | 3.09 | 1 | 0 |
Craniosynostoses Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. | 0 | 3.09 | 1 | 0 |
Congenital Limb Deformities [description not available] | 0 | 3 | 1 | 0 |
Nanism [description not available] | 0 | 3 | 1 | 0 |
Lordosis The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL). | 0 | 3 | 1 | 0 |
Brittle Bone Disease [description not available] | 0 | 3 | 1 | 0 |
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. | 0 | 3 | 1 | 0 |
Hypophosphatasia A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) | 0 | 3 | 1 | 0 |
Osteogenesis Imperfecta COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I. | 0 | 3 | 1 | 0 |