|
VHL familial polycythemia
|
9892 |
|
|
Von Hippel-Lindau-dependent polycythemia
|
9892 |
|
|
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 |
|
|
erythrocytosis, autosomal recessive benign
|
9892 |
|
|
STIL autosomal recessive primary microcephaly
|
12989 |
|
|
uncombable hair syndrome 2
|
14989 |
|
|
uncombable hair syndrome 2; UHS2
|
14989 |
|
|
uncombable hair syndrome caused by mutation in TGM3
|
14989 |
|
|
uncombable hair syndrome type 2
|
14989 |
|
|
short rib-polydactyly syndrome type II
|
9894 |
|