Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

62 matching diseasesClear search ×

Secondary interstitial lung disease specific to childhood associated with a granulomatous disease

Secondary ILD specific to childhood associated with a granulomatous disease

ORPHA:264714

Secondary interstitial lung disease specific to childhood associated with a metabolic disease

Secondary ILD specific to childhood associated with a metabolic disease

ORPHA:264719

Secondary interstitial lung disease specific to childhood associated with a systemic disease

Secondary ILD specific to childhood associated with a systemic disease

ORPHA:264699

Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis

Secondary ILD specific to childhood associated with a systemic vasculitis

ORPHA:264709

Sickle cell S-other specified hemoglobin variant

HbS-other specified hemoglobin variant disease

ORPHA:700107

Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells

ORPHA:169443

Specific language disorder

Dysphasia

ORPHA:211053

Specific learning disability

Specific learning difficulty · Specific learning disorder

ORPHA:211047

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

ORPHA:93358

Symmetrical thalamic calcifications

Bilateral symmetrical thalamic gliosis

ORPHA:1314

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell immunodeficiency due to RHOH deficiency

ORPHA:324294

Theca steroid-producing cell malignant tumor of ovary, not further specified

Theca (steroid-producing) cell cancer, not further specified

ORPHA:99917

Unspecified juvenile idiopathic arthritis

Unspecified JIA

ORPHA:91140

Unspecified mitochondrial disorder

ORPHA:254837