language:
Find link is a tool written by Edward Betts.Longer titles found: Ulna metaphyseal dysplasia syndrome (view), Spondylometaphyseal dysplasia, East-African type (view)
searching for Metaphyseal dysplasia 13 found (23 total)
alternate case: metaphyseal dysplasia
Verloes Van Maldergem Marneffe syndrome
(158 words)
[view diff]
exact match in snippet
view article
find links to article
Van Maldergem Marneffe syndrome, also known as microspherophakia-metaphyseal dysplasia is a very rare genetic disorder which is characterized by flattenedAngel-shaped phalango-epiphyseal dysplasia (489 words) [view diff] exact match in snippet view article find links to article
by angel-shaped middle phalanges of the fingers and generalized metaphyseal dysplasia/delayed osseous age. Additional findings include joint hypermobilityDymeclin protein family (266 words) [view diff] exact match in snippet view article find links to article
autosomal-recessive disorder characterised by the association of spondylo-epi-metaphyseal dysplasia, postnatal onset microcephaly and intellectual disability. ThisGhosal hematodiaphyseal dysplasia (1,704 words) [view diff] exact match in snippet view article find links to article
autosomal recessive disease, characterized by diaphyseal dysplasia and metaphyseal dysplasia of the long bones and refractory anemia. It is associated with aNKX3-2 (663 words) [view diff] exact match in snippet view article find links to article
function of this gene are associated with spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD). Nkx3-2 in mice also regulates patterning in the middle earCyclin-dependent kinase inhibitor 1C (1,978 words) [view diff] exact match in snippet view article find links to article
associated to the IMAGe syndrome (Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies). CompleteFinnish heritage disease (1,459 words) [view diff] exact match in snippet view article find links to article
polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia Cartilage–hair hypoplasia Ceroid lipofuscinosis, neuronal, 1 CeroidSOFT syndrome (906 words) [view diff] exact match in snippet view article find links to article
abnormally high-pitched voice. Radiological findings included mild metaphyseal dysplasia and shortening of the humeral and femoral bone, with severe shorteningGPX4 (2,303 words) [view diff] exact match in snippet view article find links to article
GPX4 is involved in the development of Sedaghatian-type spinal metaphyseal dysplasia, a rare and fatal disease in newborn babies. GRCh38: Ensembl releaseEric Vilain (1,797 words) [view diff] case mismatch in snippet view article find links to article
a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies". The JournalMatrilin-3 (2,170 words) [view diff] exact match in snippet view article find links to article
Borochowitz ZU, Scheffer D, Adir V, et al. (2004). "Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novelCollagen (6,885 words) [view diff] exact match in snippet view article find links to article
and EDM3 X Hypertrophic and mineralizing cartilage COL10A1 Schmid metaphyseal dysplasia XI Cartilage COL11A1, COL11A2 Collagenopathy, types II and XI XIIList of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article
polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia; 240300; AIRE Axenfeld–Rieger syndrome, type 1; 180500; PITX2 Axenfeld–Rieger