MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Functioning neuroendocrine tumor of pancreas

ORPHA:506060Cat.

Fundus albipunctatus

ORPHA:227796Disease
Autosomal dominant, Autosomal recessive

Fungal myositis

ORPHA:207000Disease

Furuncular myiasis

ORPHA:591Disease
Not applicable

Furuncular myiasis due to Cordylobia anthropophaga

ORPHA:563687Clin. sub.

Furuncular myiasis due to Cordylobia rodhaini

ORPHA:563690Clin. sub.

Furuncular myiasis due to Dermatobia hominis

ORPHA:563684Clin. sub.

Fusariosis

ORPHA:228119Disease
Not applicable

Fused mandibular incisors

ORPHA:2287Morph.

GAPO syndrome

ORPHA:2067Malform.
Autosomal recessive

GATA2 deficiency spectrum

ORPHA:228423Disease
Autosomal dominant, Not applicable

GCGR-related hyperglucagonemia

ORPHA:438274Disease
Autosomal recessive

GJC2-related late-onset primary lymphedema

ORPHA:568051Disease
Autosomal dominant

GM1 gangliosidosis

ORPHA:354Disease
Autosomal recessive

GM1 gangliosidosis type 1

ORPHA:79255Clin. sub.
Autosomal recessive

GM1 gangliosidosis type 2

ORPHA:79256Clin. sub.
Autosomal recessive

GM1 gangliosidosis type 3

ORPHA:79257Clin. sub.
Autosomal recessive

GM2 gangliosidosis

ORPHA:309152Clin. grp.

GM2 gangliosidosis, AB variant

ORPHA:309246Disease
Autosomal recessive

GM3 synthase deficiency

ORPHA:370933Disease
Autosomal recessive

GMPPB-related limb-girdle muscular dystrophy R19

ORPHA:363623Disease
Autosomal recessive

GMS syndrome

ORPHA:2090Malform.

GNAO1-related developmental delay-seizures-movement disorder spectrum

ORPHA:592564Disease
Autosomal dominant

GNB5-related intellectual disability-cardiac arrhythmia syndrome

ORPHA:542306Disease
Autosomal recessive