|
complete hypoxanthine-guanine phosphoribosyltransferase deficiency
|
10298 |
|
|
hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
|
10298 |
|
|
polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
|
12984 |
|
|
diomedi bernardi placidi syndrome
|
22989 |
|
|
oligodactyly tetramelic postaxial
|
8298 |
|
|
autosomal recessive primary microcephaly caused by mutation in STIL
|
12989 |
|
|
microcephaly 7, primary, autosomal recessive
|
12989 |
|
|
microcephaly 7, primary, autosomal recessive; MCPH7
|
http://purl.obolibrary.org/obo/MONDO_0012989 |
|
|
diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
|
22986 |
|
|
STIL autosomal recessive primary microcephaly
|
12989 |
|
|
agammaglobulinemia, autosomal recessive, due to Cd79B defect
|
12987 |
|
|
congenital mitral regurgitation
|
1298 |
|
|
oropharynx in situ carcinoma
|
21298 |
|
|
carcinoma in situ of oropharynx
|
21298 |
|
|
carcinoma in situ of the oropharynx
|
21298 |
|
