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681 lines
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115 KiB
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<div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1289" class="ui-helper-hidden-accessible">Select item 1289</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox1289" value="1289" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/medgen/1289" ref="ordinalpos=1&ncbi_uid=1289&link_uid=1289">Achondroplasia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1289</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0001080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
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<ul class="db_links"><li><a href="/gtr/tests/?term=C0001080%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1289" target="_blank">ClinVar</a></li>
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1289" target="_blank">Genes</a></li>
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<li><a href="http://www.omim.org/entry/100800" target="_blank">OMIM</a></li>
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1289" target="_blank"><i>GeneReviews</i></a></li></ul>
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox75677" class="ui-helper-hidden-accessible">Select item 75677</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox75677" value="75677" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/medgen/75677" ref="ordinalpos=2&ncbi_uid=75677&link_uid=75677">Infantile hypophosphatasia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75677</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
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<ul class="db_links"><li><a href="/gtr/tests/?term=C0268412%5bDISCUI%5d" target="_blank">GTR</a></li>
|
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=75677" target="_blank">ClinVar</a></li>
|
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=75677" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/241500" target="_blank">OMIM</a></li>
|
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=75677" target="_blank"><i>GeneReviews</i></a></li></ul>
|
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox196551" class="ui-helper-hidden-accessible">Select item 196551</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox196551" value="196551" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/medgen/196551" ref="ordinalpos=3&ncbi_uid=196551&link_uid=196551">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually involving the sagittal suture with consequent scaphocephaly. XLH typically manifests in the first two years of life with lower extremity bowing due to the onset of weight-bearing; however, it sometimes does not manifest until adulthood, as previously unevaluated short stature. Adults may present with calcification of the tendons, ligaments, and joint capsules, joint pain, fatigue, insufficiency fractures, and impaired mobility. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported. Rarely, individuals with XLH can suffer from spinal stenosis, Chiari I malformation, syringomyelia, and/or raised intracranial pressure. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196551</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0733682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
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<ul class="db_links"><li><a href="/gtr/tests/?term=C0733682%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=196551" target="_blank">Genes</a></li>
|
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<li><a href="http://www.omim.org/entry/307800" target="_blank">OMIM</a></li>
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=196551" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox43781" class="ui-helper-hidden-accessible">Select item 43781</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox43781" value="43781" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/medgen/43781" ref="ordinalpos=4&ncbi_uid=43781&link_uid=43781">Infantile cortical hyperostosis</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, soft-tissue swelling, and pain, with onset between birth and five months and spontaneous resolution by age two years. Recurrence of bone hyperostosis, fever, soft-tissue swelling, and pain can occur later in life. Adults with a history of Caffey disease in childhood may have joint laxity, skin hyperextensibility, hernias, short stature, and an increased risk for bone fractures and/or deformities. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43781</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020497</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0020497%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=43781" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=43781" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/114000" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=43781" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox65089" class="ui-helper-hidden-accessible">Select item 65089</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox65089" value="65089" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/medgen/65089" ref="ordinalpos=5&ncbi_uid=65089&link_uid=65089">Childhood hypophosphatasia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65089</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0220743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0220743%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=65089" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=65089" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/241510" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=65089" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox336322" class="ui-helper-hidden-accessible">Select item 336322</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox336322" value="336322" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/medgen/336322" ref="ordinalpos=6&ncbi_uid=336322&link_uid=336322">Dent disease type 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336322</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1848336%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=336322" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=336322" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/300009" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=336322" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox90989" class="ui-helper-hidden-accessible">Select item 90989</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox90989" value="90989" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/medgen/90989" ref="ordinalpos=7&ncbi_uid=90989&link_uid=90989">Vitamin D-dependent rickets type II with alopecia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90989</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342646</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0342646%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=90989" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=90989" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/277440" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox343981" class="ui-helper-hidden-accessible">Select item 343981</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox343981" value="343981" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/medgen/343981" ref="ordinalpos=8&ncbi_uid=343981&link_uid=343981">Osteogenesis imperfecta type 7</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343981</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1853162%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=343981" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=343981" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/610682" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox120640" class="ui-helper-hidden-accessible">Select item 120640</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox120640" value="120640" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/medgen/120640" ref="ordinalpos=9&ncbi_uid=120640&link_uid=120640">Primary hypomagnesemia</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120640</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0268448%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=120640" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=120640" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/248250" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox481194" class="ui-helper-hidden-accessible">Select item 481194</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox481194" value="481194" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/medgen/481194" ref="ordinalpos=10&ncbi_uid=481194&link_uid=481194">Osteogenesis imperfecta type 6</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481194</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3279564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C3279564%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=481194" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=481194" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/613982" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox462783" class="ui-helper-hidden-accessible">Select item 462783</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox462783" value="462783" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/medgen/462783" ref="ordinalpos=11&ncbi_uid=462783&link_uid=462783">Osteogenesis imperfecta type 12</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462783</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C3151433%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=462783" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=462783" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/613849" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox501133" class="ui-helper-hidden-accessible">Select item 501133</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox501133" value="501133" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/medgen/501133" ref="ordinalpos=12&ncbi_uid=501133&link_uid=501133">Autosomal recessive hypophosphatemic bone disease</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1853271%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=501133" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=501133" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/241530" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox335115" class="ui-helper-hidden-accessible">Select item 335115</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox335115" value="335115" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/medgen/335115" ref="ordinalpos=13&ncbi_uid=335115&link_uid=335115">Hypophosphatemic rickets, X-linked recessive</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">X-linked recessive hypophosphatemic rickets (XLHRR) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335115</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1845168%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=335115" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=335115" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/300554" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox78546" class="ui-helper-hidden-accessible">Select item 78546</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox78546" value="78546" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/medgen/78546" ref="ordinalpos=14&ncbi_uid=78546&link_uid=78546">Achondrogenesis, type IA</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Classification of Achondrogenesis Achondrogenesis was traditionally divided into 2 types: type I (Parenti-Fraccaro) and type II (Langer-Saldino). Borochowitz et al. (1988) suggested that achondrogenesis type I of Parenti-Fraccaro should be classified into 2 distinct disorders: type IA, corresponding to the cases originally published by Houston et al. (1972) and Harris et al. (1972), and type IB (600972), corresponding to the case originally published by Fraccaro (1952). Analysis of the case reported by Parenti (1936) by Borochowitz et al. (1988) suggested the diagnosis of achondrogenesis type II, i.e., the Langer-Saldino type (200610). Type IA would be classified as lethal achondrogenesis, Houston-Harris type; type IB, lethal achondrogenesis, Fraccaro type; and type II, lethal achondrogenesis-hypochondrogenesis, Langer-Saldino type. Superti-Furga (1996) suggested that hypochondrogenesis should be considered separately from achondrogenesis type II because the phenotype can be much milder. Genetic Heterogeneity of Achondrogenesis Achondrogenesis type IB (ACG1B; 600972) is caused by mutation in the DTDST gene (606718), and achondrogenesis type II (ACG2; 200610) is caused by mutation in the COL2A1 gene (120140). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78546</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0265273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
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||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0265273%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=78546" target="_blank">ClinVar</a></li>
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=78546" target="_blank">Genes</a></li>
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<li><a href="http://www.omim.org/entry/200600" target="_blank">OMIM</a></li>
|
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<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox414350" class="ui-helper-hidden-accessible">Select item 414350</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox414350" value="414350" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/medgen/414350" ref="ordinalpos=15&ncbi_uid=414350&link_uid=414350">Metaphyseal anadysplasia 2</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Metaphyseal anadysplasia-2 (MANDP2) is a very rare skeletal dysplasia with onset in the second or third year of life of mild rhizomelic micromelia and varus deformity of lower extremities. The disorder appears to resolve without intervention during adolescence (summary by Bonilla-Fornes et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of metaphyseal anadysplasia, see MANDP1 (602111). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414350</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2751322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2751322%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=414350" target="_blank">ClinVar</a></li>
|
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=414350" target="_blank">Genes</a></li>
|
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<li><a href="http://www.omim.org/entry/613073" target="_blank">OMIM</a></li>
|
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<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox338595" class="ui-helper-hidden-accessible">Select item 338595</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox338595" value="338595" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/medgen/338595" ref="ordinalpos=16&ncbi_uid=338595&link_uid=338595">Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Spondylometaepiphyseal dysplasia, short limb-hand type is an autosomal recessive disorder with clinical and radiologic features of disproportionate short stature, platyspondyly, abnormal epiphyses and metaphyses, shortening of the lower and upper limbs, short and broad fingers, and premature calcifications. The disorder is progressive with respect to the severity of the bowing of the lower limbs and the appearance of calcifications, with some patients being wheelchair-bound from age 11 years (Bargal et al., 2009). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338595</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1849011%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=338595" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=338595" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/271665" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox934705" class="ui-helper-hidden-accessible">Select item 934705</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox934705" value="934705" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/medgen/934705" ref="ordinalpos=17&ncbi_uid=934705&link_uid=934705">Meier-Gorlin syndrome 7</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4310738%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=934705" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=934705" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/617063" target="_blank">OMIM</a></li>
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<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox83381" class="ui-helper-hidden-accessible">Select item 83381</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox83381" value="83381" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/medgen/83381" ref="ordinalpos=18&ncbi_uid=83381&link_uid=83381">Congenital livedo reticularis</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Isolated and classic cutis marmorata telangiectatica congenita (CMTC) are characterized by congenital skin changes including erythematous-to-violaceous, reticulated, net-like or marbled-appearing patches of skin that do not mostly or completely resolve with warming or any other acute intervention. Individuals with isolated CMTC have no other syndromic features, and skin lesions tend to fade or resolve. Those with classic CMTC may have accompanying hemihypoplasia with body asymmetry, skin atrophy or ulceration, other vascular malformations, and occasional ocular issues (early-onset glaucoma and/or peripheral retinal vascular attenuation) but do not have other malformations, dysmorphic features, or cognitive impairment. The most common location for the CMTC lesions is on the legs. An affected limb may also display weakness or be unusually susceptible to cold compared to an unaffected limb. In more than half of affected individuals, skin lesions will generally fade across a wide range in age (6 weeks to 26 years), most commonly in the first year of life, but may not resolve completely. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83381</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0345419</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><span class="inactive">GTR</span></li>
|
||
<li><span class="inactive">ClinVar</span></li>
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||
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|
||
<li><a href="http://www.omim.org/entry/219250" target="_blank">OMIM</a></li>
|
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=83381" target="_blank"><i>GeneReviews</i></a></li></ul>
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox411234" class="ui-helper-hidden-accessible">Select item 411234</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox411234" value="411234" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/medgen/411234" ref="ordinalpos=19&ncbi_uid=411234&link_uid=411234">Spondyloepimetaphyseal dysplasia, PAPSS2 type</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">This form of brachyolmia, here designated brachyolmia type 4, is characterized by short-trunk stature with normal intelligence and facies. The radiographic features include rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, mildly shortened metacarpals, and mild epiphyseal and metaphyseal changes of the tubular bones (summary by Miyake et al., 2012). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>411234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2748515</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2748515%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=411234" target="_blank">ClinVar</a></li>
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||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=411234" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612847" target="_blank">OMIM</a></li>
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<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
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</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox374020" class="ui-helper-hidden-accessible">Select item 374020</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox374020" value="374020" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/medgen/374020" ref="ordinalpos=20&ncbi_uid=374020&link_uid=374020">Vitamin D hydroxylation-deficient rickets, type 1B</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Vitamin D hydroxylation-deficient rickets type 1B (VDDR1B) is caused by a defect in vitamin D 25-hydroxylation (Molin et al., 2017). The major function of vitamin D is to maintain calcium and phosphate levels in the normal range to support metabolic functions, neuromuscular transmission, and bone mineralization. Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (summary by Liberman and Marx, 2001). Rickets can occur because of inadequate dietary intake or sun exposure or because of genetic disorders. Vitamin D3 (cholecalciferol) is taken in the diet or synthesized in the skin from 7-dehydrocholesterol by ultraviolet irradiation. For vitamin D to be active, it needs to be converted to its active form, 1,25-dihydroxyvitamin D3. Vitamin D is transported in the blood by the vitamin D binding protein (DBP; 139200) to the liver, where vitamin D 25-hydroxylase (CYP2R1; 608713) is the key enzyme for 25-hydroxylation. Vitamin D 25(OH)D3, the major circulating form of vitamin D, is then transported to the kidney, where 25(OH)D3 is hydroxylated at the position of carbon 1 of the A ring, resulting in the active form of vitamin D, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) (summary by Christakos et al., 2010). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374020</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
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<ul class="db_links"><li><a href="/gtr/tests/?term=C1838657%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="http://www.omim.org/entry/600081" target="_blank">OMIM</a></li>
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<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
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<textarea name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="medgen">"Bowing of the legs"[Clinical Features] OR 1807399[uid]</textarea>
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<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6a1cde49f3df7bb5a7b">"Bowing of the legs"[Clinical Features] OR 1807399[uid] <span class="number">(40)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6a167c23b31e0900155">"Recurrent otitis media"[Clinical Features] OR 155436[uid] <span class="number">(182)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5c6a084f3725e590bdfc1">"Feeding difficulties"[Clinical Features] OR 65429[uid] <span class="number">(582)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d5c69f2f30673f7bd2f673">"Premature rupture of membranes"[Clinical Features] OR 8826[uid] <span class="number">(16)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d5c69e67c23b31e08ff600">"Ulnar bowing"[Clinical Features] OR 356099[uid] <span class="number">(20)</span></a>
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<div class="tertiary">MedGen</div>
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