- focal dermal hypoplasia syndrome
- наследственно-семейная экзотермальная аномалия
English-Russian big medical dictionary. 2005.
focal dermal hypoplasia syndrome
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Focal dermal hypoplasia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29896 ICD10 = ICD10|Q|82|8|q|80 ICD9 = ICD9|759.89 ICDO = OMIM = 305600 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 155 MeshID = D005489 Focal dermal hypoplasia is a form of… … Wikipedia
focal dermal hypoplasia — an X linked dominant disorder caused by mutation in the PORCN gene (locus: Xp11.23), which encodes an endoplasmic reticulum transmembrane protein involved in processing of Wnt proteins. It is found almost exclusively in females, being lethal to… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Hypoplasia — Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all. * * * 1.… … Medical dictionary
X-linked adrenal hypoplasia congenita — Classification and external resources OMIM 300200 DiseasesDB 32988 X linked adrenal hypoplasia congenita is a genetic dis … Wikipedia
Complete androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 … Wikipedia
Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E … Wikipedia
Occipital horn syndrome — Classification and external resources OMIM 304150 DiseasesDB 33413 Occipital horn syndrome (OHS), formerly considered a variant of Eh … Wikipedia
Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 … Wikipedia
Rett syndrome — Classification and external resources ICD 10 F84.2 ICD 9 330.8 … Wikipedia
MASA syndrome — Classification and external resources OMIM 303350 MASA syndrome, also called CRASH syndrome and Gareis Mason syndrome,[1] is a rare X linked recessive[2 … Wikipedia
