loading...| Preferred Name |
Ectodermal Dysplasia 1, Anhidrotic |
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| Synonyms |
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| Definitions |
A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00039330 |
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| Database_Cross_Reference |
SNOMEDCT_US:239007005 MTH:NOCODE RCD:X50H8 CHV:0000017812 SNM:D-3651 SNOMEDCT_US:4826006 OMIM:300451 SNOMEDCT_US:7731005 DO:DOID:14793 RCD:X50H9 OMIM:305100 SNM:D-3654 NDFRT:N0000181060 HPO:HP:0007607 SNMI:D4-01101 MDR:10072592 MSH:D053358 NCI:C84562 |
|
| Definition |
A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). |
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| label |
Ectodermal Dysplasia 1, Anhidrotic |
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| MCID |
MC00063254 |
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| PMOID |
PMO:00039330 |
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| prefixIRI |
pmo:PMO_00039330 |
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| prefLabel |
Ectodermal Dysplasia 1, Anhidrotic |
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| Synonym |
Anhidrotic Ectodermal Dysplasia, X-Linked ED1 Hypohidrotic ectodermal dysplasia syndrome, NOS Anhydrotic Ectodermal Dysplasia, X-Linked Hypohidrotic ectodrml dyspl Syndrome, CST Hypohidrotic ectodermal dysplasia CST syndrome Christ-Siemens-Touraine Syndrome Ectodermal Dysplasia 1 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED anhidrotic ectodermal dysplasia 3 Hypohidrotic X ectoderm dyspl Hypohidrotic ectodermal dysplasia syndrome (disorder) EDA Ectodermal Dysplasia 1, Anhydrotic Ectodermal Dysplasia, Hypohidrotic, X-Linked Ectodermal Dysplasia 1, Anhidrotic [Disease/Finding] CST - Christ-Siemens-Touraine syndrome Syndromes, CST hypohidrotic ectodermal dysplasia Hypohidrotic X-linked ectodermal dysplasia (disorder) Anhidrotic Ectodermal Dysplasia 1 Hypohidrotic ectodermal dysplasia syndrome (disorder) [Ambiguous] CST SYNDROME Dysplasia 1, Ectodermal Anhydrotic Ectodermal Dysplasia, X Linked ECTD1 Christ-Siemens-Touraine syndr anhidrotic ectodermal dysplasia Ectodermal Dysplasia, Anhidrotic, X-Linked X Linked Hypohydridic Ectodermal Dysplasia Hypohidrotic Ectodermal Dysplasia XLHED Hypohidrotic ectodermal dysplasia syndrome Christ-Siemens-Touraine syndrome ECTODERMAL DYSPLASIA 1 Christ Siemens Touraine Syndrome Ectodermal Dysplasia 1s Anhidrotic ectodermal dysplasia syndrome, hereditary Ectodermal Dysplasia, Hypohydridic, X-Linked HED1 EDA1 XHED ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1 X-Linked Hypohydridic Ectodermal Dysplasia ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED CST Syndrome ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED anhidrotic dysplasia ectodermal CHRIST-SIEMENS-TOURAINE SYNDROME christ-siemens-touraine syndrome Anhidrotic Ectodermal Dysplasia, X Linked CST Syndromes Hypohidrotic X-linked ectodermal dysplasia |
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| Tree Number |
T9.8.4.1.3.2 T9.8.3.1.2.2 T9.14.1.1.3.2 T9.14.1.5.7.2 T9.8.4.41.1 T9.8.3.4.7.2 |
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| subClassOf |