Rare Disease Index
9,491 diseasessyndromic developmental defect of the eye
developmental defect of the eye that is part of a larger syndrome
syndromic diaphragmatic or abdominal wall malformation
diaphragmatic or abdominal wall malformation that is part of a larger syndrome
syndromic diaphragmatic or thoracic malformation
human disease
syndromic dyslipidemia
human disease
syndromic epicanthus
human disease
syndromic esophageal malformation
esophageal malformation that is part of a larger syndrome
syndromic gastroduodenal malformation
gastroduodenal malformation that is part of a larger syndrome
syndromic genetic deafness
human disease
syndromic glaucoma
human disease
syndromic hair shaft abnormality
human disease
syndromic hereditary optic neuropathy
hereditary optic neuropathy that is part of a larger syndrome
syndromic hyperopia
hyperopia that is part of a larger syndrome
syndromic hypothyroidism
hypothyroidism that is part of a larger syndrome
syndromic ichthyosis associated with ocular features
ichthyosis associated with ocular features that is part of a larger syndrome
syndromic intellectual disability
intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms
syndromic intestinal malformation
intestinal malformation that is part of a larger syndrome
syndromic keratoconus
keratoconus (disease) that is part of a larger syndrome
syndromic lissencephaly
human disease
syndromic lymphedema
lymphedema that is part of a larger syndrome
syndromic microphthalmia
microphthalmia that is part of a larger syndrome
syndromic microphthalmia 3
syndromic microphthalmia 5
human disease
syndromic multisystem autoimmune disease due to ICTH deficiency
human disease
syndromic myopia
myopia (disease) that is part of a larger syndrome
syndromic nail anomaly
nail anomaly that is part of a larger syndrome
syndromic neurometabolic disease with non-X-linked intellectual disability
human disease
syndromic neurometabolic disease with X-linked intellectual disability
human disease
syndromic obesity
obesity (disease) that is part of a larger syndrome
syndromic oculocutaneous albinism
oculocutaneous albinism that is part of a larger syndrome
syndromic optic nerve hypoplasia
human disease