Disease Directory

Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.

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Showing 6,941-6,960 of 10,888 diseases

early-onset myopathy with fatal cardiomyopathy

MONDO:0012714

Rare

1 Trials

TTN

early-onset non-syndromic cataract

MONDO:0011060

Rare

1 Trials

Early-onset non-syndromic cataract is a rare genetic disorder affecting the eyes, primarily characterized by bilateral, symmetrical, and non-progressi...

LSSGCNT2PITX3+7

early-onset nuclear cataract

MONDO:0020376

Rare

WFS1

early-onset obesity-hyperphagia-severe developmental delay syndrome

MONDO:0850115

Rare

early-onset parkinsonism-intellectual disability syndrome

MONDO:0010709

Rare

RAB39B

early-onset partial cataract

MONDO:0020377

Rare

1 Trials

3 Approved

Early-onset partial cataract is an ocular condition that involves clouding of a portion of the lens, potentially affecting vision from a young age. Re...

VIM

early-onset posterior polar cataract

MONDO:0020378

Rare

early-onset posterior subcapsular cataract

MONDO:0018610

Rare

early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

MONDO:0044646

Rare

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a multisystem condition that predominantly affect...

TBCD

early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

MONDO:0044696

Rare

1 Trials

TRAPPC12

early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

MONDO:0044651

Rare

3 Approved

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome is a very rare condition that affects the nervous system...