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Longer titles found: Spondylometaphyseal dysplasia, East-African type (view)

searching for Metaphyseal dysplasia 14 found (22 total)

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 flattened

Angel-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 hypermobility

Dymeclin 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. This

Ghosal 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 a

NKX3-2 (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 ear

List of diseases (U) (232 words) [view diff] exact match in snippet view article

with severe limb deficit Ulna hypoplasia mental retardation Ulna metaphyseal dysplasia syndrome Ulnar hypoplasia lobster claw deformity of feet Umbilical

Cyclin-dependent kinase inhibitor 1C (2,000 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). Complete

SOFT 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 shortening

Finnish 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 Ceroid

GPX4 (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 release

Eric 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 Journal

Matrilin-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 novel

Collagen (7,717 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 XII

List 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