chediak higashi syndrome
11Syndrome de Chediak Higashi — Référence MIM 214500 Transmission Récessive Chromosome 1q42.1 q42.2 Gène LYST Nombre d allèles pathologiques …
12Síndrome de Chédiak–Higashi — Clasificación y recursos externos CIE 10 E70.3 (E70.340 ILDS) CIE 9 …
13síndrome de Chédiak-Higashi — Eng. Chédiak Higashi syndrome Síndrome que cursa con infiltración de la coroides con células redondas parecidas a los linfocitos inmaduros, distrofia retiniana con electrorretinograma subnormal, papiledema debido a infiltración celular del nervio …
14syndrome — 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,… …
15Chédiak — Moisés, 20th century Cuban physician. See C. Higashi disease, C. Steinbrinck Higashi anomaly, C. Steinbrinck Higashi syndrome …
16Hermansky–Pudlak syndrome — Classification and external resources ICD 10 E70.3 (ILDS E70.360) OMIM 203300 …
17Tietz syndrome — Not to be confused with Tietze syndrome. Tietz syndrome Classification and external resources ICD 10 E70.3 (ILDS E70.358) OMIM 103500 …
18Neutrophil immunodeficiency syndrome — Classification and external resources OMIM 608203 Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2 gene.[1] See also …
19Cohen syndrome — Classification and external resources OMIM 216550 DiseasesDB 29622 Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named afte …
20Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome — Classification and external resources OMIM 609528 Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (also known as CEDNIK syndrome ) is a cutaneous condition caused by mutation in the SNAP29 gene.[ …
