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Metadata
ID DOID:14793
Name hypohidrotic ectodermal dysplasia
Definition An ectodermal dysplasia 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).
http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia, http://www.ncbi.nlm.nih.gov/books/NBK1112/, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468
Xrefs

GARD:76

MESH:D053358

NCI:C84562

OMIM:129490

OMIM:224900

OMIM:300291

OMIM:305100

ORDO:238468

SNOMEDCT_US_2018_03_01:4826006

SNOMEDCT_US_2018_03_01:7731005

UMLS_CUI:C0162359

Alternateids

DOID:0050446

DOID:0050447

Subsets

NCIthesaurus

Synonyms

anhidrotic ectodermal dysplasia 3 [EXACT]

Christ-Siemens-Touraine Syndrome [EXACT]

Ectodermal Dysplasia 1, Anhydrotic [EXACT]

Hypohidrotic X-linked ectodermal dysplasia [EXACT]

Parent Relationships

is_a ectodermal dysplasia

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