Disease Index

human disease

human disease

human disease

human disease

human disease

human disease

human disease

focal palmoplantar keratoderma that is not part of a larger syndrome

human disease

hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones

human disease

human disease

human disease

isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material basis in mutation in the BTK gene on chromosome Xq22.1

medical condition

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae

megalencephaly (disease) that is not part of a larger syndrome

microphthalmia that has material basis in variation in the chromosomal region 14q32

microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has material basis in homozygous mutation in the CHX10 gene on chromosome 14q24

microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21

microphthalmia that has material basis in mutation in the GDF6 gene on chromosome 8q22

Human disease

Human disease

microphthalmia characterized by unilateral microphthalmia that has material basis in caused by mutation in the GDF3 gene on chromosome 12p13

microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has material basis in homozygous mutation in the ALDH1A3 gene on chromosome 15q26

human disease

human disease

human disease