severe combined immunodeficiency syndrome
121X-linked adrenal hypoplasia congenita — Classification and external resources OMIM 300200 DiseasesDB 32988 X linked adrenal hypoplasia congenita is a genetic dis …
122DNA repair-deficiency disorder — Classification and external resources MeSH D049914 A DNA repair deficiency disorder is a medical condition due to reduced functionality of DNA repair. DNA repair defects are seen in nearly all of the diseases described as accelerated aging… …
123Ocular albinism — Classification and external resources ICD 10 E70.3 ICD 9 270.2 …
124Achondroplasia — Classification and external resources Jason Acuña, alias Wee Man , a star of Jackass …
125Haemophilia B — Classification and external resources ICD 10 D67 ICD 9 286.1 OM …
126Male-limited precocious puberty — Classification and external resources OMIM 176410 Male limited precocious puberty (also known as familial sexual precocity and gonadotropin independent testotoxicosis)[1] is a form of gonadotropin independent …
127Congenital amegakaryocytic thrombocytopenia — Classification and external resources ICD 9 287.33, 287.5 OMIM …
128Emery–Dreifuss muscular dystrophy — For other uses of EDMD , see Everybody Draw Mohammed Day. Emery–Dreifuss muscular dystrophy Classification and external resources ICD 10 G71.0 ICD 9 …