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"

79 matching diseasesClear search ×

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

ORPHA:53693

Graft versus host disease

GvHD

ORPHA:39812

Graham Little-Piccardi-Lassueur syndrome

Graham Little syndrome · Piccardi-Lassueur-Little syndrome

ORPHA:505

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

ORPHA:79094

Grant syndrome

ORPHA:2097

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

ORPHA:98962

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

ORPHA:98963

Granuloma faciale

Facial granuloma of Lever · Granuloma of Lever

ORPHA:615943

Granulomatosis with polyangiitis

GPA · Wegener granulomatosis

ORPHA:900

Granulomatous arthritis of childhood

Autoinflammatory granulomatosis of childhood · Granulomatous inflammatory arthritis, dermatitis, and uveitis

ORPHA:3274

Granulomatous autoinflammatory syndrome

ORPHA:324930

Granulomatous autoinflammatory syndrome of childhood

ORPHA:324950

Granulomatous mastitis

Idiopathic granulomatous mastitis · IGM

ORPHA:64722

Granulomatous slack skin

ORPHA:33111

Gray platelet syndrome

Alpha storage pool deficiency · GPS

ORPHA:721

Grayson-Wilbrandt corneal dystrophy

GWCD

ORPHA:293375

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

ORPHA:403

Cerebroretinal vasculopathy

CRV · Grand-Kaine-Fulling syndrome

ORPHA:3421

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

ORPHA:52055

Cystic hamartoma of lung and kidney

Graham-Boyle-Troxell syndrome

ORPHA:2111

Eosinophilic granulomatosis with polyangiitis

Churg-Strauss syndrome · EGPA

ORPHA:183

Intrahepatic cholestasis of pregnancy

Gravidic intrahepatic cholestasis · Pregnancy-related cholestasis

ORPHA:69665

Malignant granulosa cell tumor of the ovary

Granulosa cell cancer · Granulosa cell malignant tumor

ORPHA:99915

Myeloid sarcoma

Chloroma · Extramedullary myeloid tumor

ORPHA:86850

Osteocraniostenosis

Gracile bone dysplasia · Osteocraniosplenic syndrome

ORPHA:2763

Reis-Bücklers corneal dystrophy

Corneal dystrophy of Bowman layer type 1 · Granular corneal dystrophy type 3

ORPHA:98961

Vegetative pyoderma gangrenosum

Granulomatous pyoderma gangrenosum

ORPHA:538872

Acute graft versus host disease

ORPHA:99920

Adult-onset myasthenia gravis

Adult-onset acquired myasthenia · Adult-onset autoimmune myasthenia gravis

ORPHA:391490

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

ORPHA:734

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

ORPHA:168782

Chronic graft versus host disease

ORPHA:99921

Chronic granulomatous disease

CGD · Chronic septic granulomatosis

ORPHA:379

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

ORPHA:157949

Cutaneous larva migrans

ORPHA:423717

Early-onset progressive encephalopathy with migrant continuous myoclonus

ORPHA:1943

Epidermolysis bullosa simplex with circinate migratory erythema

EBS with circinate migratory erythema · EBS-migr

ORPHA:158681

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

ORPHA:293181

Euthyroid Graves orbitopathy

Euthyroid Graves ophthalmopathy

ORPHA:466682

Familial or sporadic hemiplegic migraine

ORPHA:569

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

ORPHA:2101

High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement

ORPHA:480541

High-grade astrocytoma

ORPHA:251561

High-grade dysplasia in patients with Barrett esophagus

ORPHA:231080

High-grade neuroendocrine carcinoma of the cervix uteri

Poorly differentiated neuroendocrine carcinoma of the cervix uteri · Poorly differentiated neuroendocrine cervical carcinoma

ORPHA:213777

High-grade neuroendocrine carcinoma of the corpus uteri

Poorly differentiated neuroendocrine carcinoma of the corpus uteri · Poorly differentiated neuroendocrine carcinoma of the endometrium

ORPHA:213731

Ichthyosis hystrix gravior

Ichthyosis, Lambert type

ORPHA:79504

Infantile onset panniculitis with uveitis and systemic granulomatosis

ORPHA:251304