- autosomal recessive hypoplasia
- аутосомно-рецессивная гипоплазия
English-Russian small dictionary of medicine. Г.Ю. Бельман, А.Е. Бойков.. 2015.
autosomal recessive hypoplasia
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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
Cartilage–hair hypoplasia — Cartilage hair hypoplasia Classification and external resources OMIM 250250 Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia,[1]:578 is a rare form of short … Wikipedia
VLDLR-associated cerebellar hypoplasia — Classification and external resources OMIM 224050 VLDLR associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES; nonprogressive cerebellar disorder with mental retardation) is a rare autosomal recessive… … Wikipedia
Cartilage hair hypoplasia syndrome — A specific genetic form of short limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum), and the tibia shorter than the fibula. The fingers are… … Medical dictionary
Syndrome, cartilage hair hypoplasia — A specific genetic form of short limbed dwarfism with skeletal features that also include normal head, inability to fully extends the elbows, chest cage deformity, bow legs (genu varum), and the tibia shorter than the fibula. The fingers are… … Medical dictionary
Cartilage-hair hypoplasia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 250250 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Cartilage hair hypoplasia (CHH) is a rare form of short limbed dwarfism due to skeletal dysplasia.… … Wikipedia
cartilage-hair hypoplasia — an autosomal recessive bone dysplasia caused by mutation in the RMRP gene (locus: 9p21 p12), which encodes an enzyme complex involved in processing mitochondrial RNA. It is characterized by short limbed dwarfism with flaring of the lower rib cage … Medical dictionary
congenital adrenal hypoplasia — a rare hereditary condition in which the adrenal glands lack the usual adult cortical zone, resulting in adrenocortical insufficiency. The usual form is X linked (locus: Xp21.3 p21.2) and seen in boys, who have sexual infantilism and skeletal… … 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
Hypohidrotic ectodermal dysplasia — Classification and external resources ICD 10 Q82.4 ICD 9 757.31 … Wikipedia
Dysplasia — Abnormal in form. From the Greek dys (bad, disordered, abnormal) and plassein (to form). For example, retinal dysplasia is abnormal formation of the retina during embryonic development. * * * Abnormal tissue development. SEE ALSO: heteroplasia.… … Medical dictionary
