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683 lines
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115 KiB
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<div class="sensor" style="padding-top: 1em;"><a href="/medgen?term=%22ectodermal%20dysplasia%22%5BClinical%20Features%5D">See MedGen results with <strong>"ectodermal dysplasia"</strong> as a clinical feature (35)</a></div>
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<div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox8544" class="ui-helper-hidden-accessible">Select item 8544</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox8544" value="8544" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/medgen/8544" ref="ordinalpos=1&ncbi_uid=8544&link_uid=8544"><b>Ectodermal dysplasia</b></a></p><div class="supp"><p class="rprtbody"><span class="concept-def"><b>Ectodermal dysplasia</b> is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8544</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.">C0013575</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=C0013575%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=8544" target="_blank">ClinVar</a></li>
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<li><span class="inactive">Genes</span></li>
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<li><span class="inactive">OMIM</span></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="UidCheckBox57890" class="ui-helper-hidden-accessible">Select item 57890</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox57890" value="57890" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/medgen/57890" ref="ordinalpos=2&ncbi_uid=57890&link_uid=57890">Hypohidrotic X-linked <b>ectodermal dysplasia</b></a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypohidrotic <b>ectodermal dysplasia</b> (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features. [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>57890</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.">C0162359</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=C0162359%5bDISCUI%5d" target="_blank">GTR</a></li>
|
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=57890" target="_blank">ClinVar</a></li>
|
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=57890" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/305100" target="_blank">OMIM</a></li>
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=57890" 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="UidCheckBox315656" class="ui-helper-hidden-accessible">Select item 315656</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox315656" value="315656" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/medgen/315656" ref="ordinalpos=3&ncbi_uid=315656&link_uid=315656">Rapp-Hodgkin syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, <b>ectodermal dysplasia</b>, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of <b>ectodermal dysplasia</b> (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. [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>315656</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.">C1785148</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=C1785148%5bDISCUI%5d" target="_blank">GTR</a></li>
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<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=315656" target="_blank">ClinVar</a></li>
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<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=315656" target="_blank">Genes</a></li>
|
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<li><a href="http://www.omim.org/entry/129400" target="_blank">OMIM</a></li>
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<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=315656" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox56416" class="ui-helper-hidden-accessible">Select item 56416</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox56416" value="56416" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/medgen/56416" ref="ordinalpos=4&ncbi_uid=56416&link_uid=56416">Hidrotic <b>ectodermal dysplasia</b> syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hidrotic <b>ectodermal dysplasia</b> 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Sweating is preserved and there are usually no dental anomalies. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is fine, sparse, and brittle. Progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. Associated features may include cutaneous hyperpigmentation (particularly over the joints) and finger clubbing. The clinical manifestations are highly variable even within the same family. [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>56416</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.">C0162361</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=C0162361%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=56416" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=56416" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/129500" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=56416" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox347666" class="ui-helper-hidden-accessible">Select item 347666</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox347666" value="347666" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/medgen/347666" ref="ordinalpos=5&ncbi_uid=347666&link_uid=347666">Ectrodactyly, <b>ectodermal dysplasia</b>, and cleft lip-palate syndrome 3</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, <b>ectodermal dysplasia</b>, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of <b>ectodermal dysplasia</b> (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. [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>347666</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.">C1858562</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=C1858562%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=347666" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=347666" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/604292" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=347666" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox98032" class="ui-helper-hidden-accessible">Select item 98032</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox98032" value="98032" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/medgen/98032" ref="ordinalpos=6&ncbi_uid=98032&link_uid=98032">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, <b>ectodermal dysplasia</b>, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of <b>ectodermal dysplasia</b> (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling. [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>98032</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.">C0406709</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=C0406709%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=98032" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=98032" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/106260" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=98032" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox854356" class="ui-helper-hidden-accessible">Select item 854356</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox854356" value="854356" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/medgen/854356" ref="ordinalpos=7&ncbi_uid=854356&link_uid=854356"><b>Ectodermal dysplasia</b> 10B, hypohidrotic/hair/tooth type, autosomal recessive</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypohidrotic <b>ectodermal dysplasia</b> (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features. [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>854356</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.">C3887494</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=C3887494%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=854356" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=854356" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/224900" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=854356" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox854747" class="ui-helper-hidden-accessible">Select item 854747</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox854747" value="854747" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/medgen/854747" ref="ordinalpos=8&ncbi_uid=854747&link_uid=854747"><b>Ectodermal dysplasia</b> 10A, hypohidrotic/hair/nail type, autosomal dominant</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypohidrotic <b>ectodermal dysplasia</b> (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features. [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>854747</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.">C3888065</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=C3888065%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=854747" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=854747" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/129490" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=854747" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox394295" class="ui-helper-hidden-accessible">Select item 394295</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox394295" value="394295" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/medgen/394295" ref="ordinalpos=9&ncbi_uid=394295&link_uid=394295"><b>Ectodermal dysplasia</b> and immunodeficiency 2</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">EDAID2 is characterized by variable features of <b>ectodermal dysplasia</b> (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Some patients may also have neutrophilia and autoinflammatory disease, such as liver disease (Tan et al., 2020). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of <b>ectodermal dysplasia</b> and immune deficiency, see 300291. [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>394295</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.">C2677481</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=C2677481%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=394295" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=394295" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612132" 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="UidCheckBox375787" class="ui-helper-hidden-accessible">Select item 375787</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox375787" value="375787" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/medgen/375787" ref="ordinalpos=10&ncbi_uid=375787&link_uid=375787"><b>Ectodermal dysplasia</b> and immunodeficiency 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def"><b>Ectodermal dysplasia</b> with immunodeficiency-1 (EDAID1) is an X-linked recessive disorder that characteristically affects only males. Affected individuals have onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. There is increased susceptibility to bacterial, pneumococcal, mycobacterial, and fungal infections. Laboratory studies usually show dysgammaglobulinemia with low IgG subsets and normal or increased IgA and IgM, consistent with impaired 'class-switching' of B cells, although immunologic abnormalities may be subtle compared to the clinical picture, and B- and T-cell numbers are usually normal. There is a poor antibody response to polysaccharide vaccinations, particularly pneumococcus; response to other vaccinations is variable. Patients also have features of <b>ectodermal dysplasia</b>, including conical incisors, hypo/anhidrosis, and thin skin or hair. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, likely due to different hypomorphic mutations, and may be fatal in childhood. Intravenous immunoglobulins and prophylactic antibiotics are used as treatment; some patients may benefit from bone marrow transplantation. Although only males tend to be affected with immunodeficiency, many patients inherit a mutation from a mother who has mild features of IP or conical teeth (summary by Doffinger et al., 2001, Orange et al., 2004, Roberts et al., 2010, Heller et al., 2020). Genetic Heterogeneity of <b>Ectodermal Dysplasia</b> and Immune Deficiency Also see EDAID2 (612132), caused by mutation in the NFKBIA gene (164008). [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>375787</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.">C1846008</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=C1846008%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=375787" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=375787" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/300291" 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="UidCheckBox761671" class="ui-helper-hidden-accessible">Select item 761671</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox761671" value="761671" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/medgen/761671" ref="ordinalpos=11&ncbi_uid=761671&link_uid=761671"><b>Ectodermal dysplasia</b> 11B, hypohidrotic/hair/tooth type, autosomal recessive</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypohidrotic <b>ectodermal dysplasia</b> (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features. [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>761671</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.">C3539920</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=C3539920%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=761671" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=761671" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/614941" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=761671" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox370376" class="ui-helper-hidden-accessible">Select item 370376</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox370376" value="370376" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/medgen/370376" ref="ordinalpos=12&ncbi_uid=370376&link_uid=370376">Immunodeficiency 33</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Immunodeficiency-33 (IMD33) is an X-linked recessive disorder that affects only males. It is characterized by early-onset severe infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria, although other organisms have also been detected. Immunologic investigations may show variable abnormalities or may be normal. Disturbances include dysgammaglobulinemia with hypogammaglobulinemia, decreased IgG2, aberrant levels of IgM and IgA, and decreased class-switched memory B cells. There is often poor, but variable, response to vaccination; in particular, most patients do not develop antibodies to certain polysaccharide vaccines, notably pneumococcus. Other immunologic abnormalities may include impaired NK cytotoxic function, impaired cytokine production upon stimulation with IL1B (147720) or TNFA (191160), low IL6 (147620), low IL12 (see 161561), and decreased IFNG (147570). Patients do not have overt abnormalities of T-cell proliferation, although signaling pathways, such as CD40LG (300386)/CD40 (109535), may be disturbed. There is heterogeneity in the immunologic phenotype, resulting in highly variable clinical courses, most likely due to the different effects of hypomorphic mutations. Treatment with antibiotics and IVIg is usually beneficial; hematopoietic stem cell transplantation may not be necessary, but can be effective. Features of hypohidrotic <b>ectodermal dysplasia</b> are generally not present, although some patients may have conical teeth or hypodontia (summary by Orange et al., 2004, Filipe-Santos et al., 2006, Salt et al., 2008, Heller et al., 2020). [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>370376</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.">C1970879</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=C1970879%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=370376" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=370376" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/300636" 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="UidCheckBox444067" class="ui-helper-hidden-accessible">Select item 444067</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox444067" value="444067" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/medgen/444067" ref="ordinalpos=13&ncbi_uid=444067&link_uid=444067">Cleft lip/palate-<b>ectodermal dysplasia</b> syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Zlotogora-Ogur syndrome is an <b>ectodermal dysplasia</b> syndrome with characteristics of hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.The prevalence is unknown but to date, less than 50 cases have been described in the literature. Caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. Transmission is autosomal recessive. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444067</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.">C2931488</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=C2931488%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=444067" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=444067" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/225060" 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="UidCheckBox1746744" class="ui-helper-hidden-accessible">Select item 1746744</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox1746744" value="1746744" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/medgen/1746744" ref="ordinalpos=14&ncbi_uid=1746744&link_uid=1746744">IFAP syndrome 1, with or without BRESHECK syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11. [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>1746744</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.">C5399971</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=C5399971%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1746744" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1746744" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/308205" 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="UidCheckBox1853123" class="ui-helper-hidden-accessible">Select item 1853123</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox1853123" value="1853123" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/medgen/1853123" ref="ordinalpos=15&ncbi_uid=1853123&link_uid=1853123">Hypohidrotic <b>ectodermal dysplasia</b></a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Hypohidrotic <b>ectodermal dysplasia</b> (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features. [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>1853123</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.">C5848103</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=C5848103%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1853123" target="_blank">ClinVar</a></li>
|
||
<li><span class="inactive">Genes</span></li>
|
||
<li><span class="inactive">OMIM</span></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1853123" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox140809" class="ui-helper-hidden-accessible">Select item 140809</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox140809" value="140809" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/medgen/140809" ref="ordinalpos=16&ncbi_uid=140809&link_uid=140809">Hypoplastic enamel-onycholysis-hypohidrosis syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Witkop syndrome is a rare autosomal dominant <b>ectodermal dysplasia</b> involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001). [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>140809</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.">C0406735</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=C0406735%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=140809" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=140809" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/189500" 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="UidCheckBox341679" class="ui-helper-hidden-accessible">Select item 341679</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox341679" value="341679" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/medgen/341679" ref="ordinalpos=17&ncbi_uid=341679&link_uid=341679">EEM syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">EEM syndrome (EEMS) denotes a disorder characterized by <b>ectodermal dysplasia</b>, ectrodactyly, and macular dystrophy. The <b>ectodermal dysplasia</b> consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels (summary by Kjaer et al., 2005). [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>341679</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.">C1857041</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=C1857041%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=341679" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=341679" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/225280" 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="UidCheckBox764501" class="ui-helper-hidden-accessible">Select item 764501</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox764501" value="764501" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/medgen/764501" ref="ordinalpos=18&ncbi_uid=764501&link_uid=764501"><b>Ectodermal dysplasia</b> 10a, hypohidrotic/hair/tooth type, autosomal dominant</a></p><div class="supp"><p class="rprtbody"></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>764501</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.">C3551587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><span class="inactive">GTR</span></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=764501" target="_blank">ClinVar</a></li>
|
||
<li><span class="inactive">Genes</span></li>
|
||
<li><a href="http://www.omim.org/entry/604095" 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="UidCheckBox372057" class="ui-helper-hidden-accessible">Select item 372057</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox372057" value="372057" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/medgen/372057" ref="ordinalpos=19&ncbi_uid=372057&link_uid=372057">Tooth agenesis, selective, 4</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A 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>372057</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.">C1835492</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=C1835492%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=372057" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=372057" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/150400" 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="UidCheckBox347366" class="ui-helper-hidden-accessible">Select item 347366</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox347366" value="347366" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/medgen/347366" ref="ordinalpos=20&ncbi_uid=347366&link_uid=347366">SchC6pf-Schulz-Passarge syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001). [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>347366</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.">C1857069</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=C1857069%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=347366" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=347366" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/224750" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div></div>
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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">"ectodermal dysplasia"[All Fields]</textarea>
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<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67c8c721b15b832ebc8e1b28">"ectodermal dysplasia" <span class="number">(181)</span></a>
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