Rare Disease Library

Drug-induced lupus erythematosus

DILE

Epidermolysis bullosa simplex with circinate migratory erythema

EBS with circinate migratory erythema · EBS-migr

Epithelioid hemangioendothelioma

EHE

Epithelioid hemangioma

EH · Angiolymphoid hyperplasia with eosinophilia

Erythema elevatum diutinum

Erythema multiforme major

Erythema multiforme majus · Erythema exsudativum multiforme majus

Erythema palmare hereditarium

Lane disease · Red palms disease

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

Female adnexal tumor of probable Wolffian origin

FATWO

Female infertility due to an implantation defect of genetic origin

Female infertility due to oocyte meiotic arrest

Female infertility due to zona pellucida defect

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Genetic central precocious puberty in female

Genetic central precocious puberty in girl · Genetic CPP in female

Genetic precocious puberty in female

Genetic tumor of hematopoietic and lymphoid tissues

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

GJC2-related late-onset primary lymphedema

Hemangioblastoma

Hematological disease associated with an acquired peripheral neuropathy

Hematological disorder with renal involvement

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary angioedema type 1

HAE · HAE 1

Hereditary angioedema type 2

HAE · HAE 2

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

Hereditary angioedema with normal C1Inh

HAE · HAE with normal C1 inhibitor

Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

HAE

High altitude pulmonary edema

HAPE

Hobnail hemangioma

HH · Targetoid hemosiderotic hemangioma

Hypertrophic or verrucous lupus erythematosus

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

OL-HED-ID

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

Inherited hematologic cancer-predisposing syndrome

Intermediate nemaline myopathy

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Isolated female hypospadias

Isolated retinal racemose hemangioma

RRH · Isolated retinal arteriovenous aneurysm 3

Isolated segmental infantile hemangioma

Segmental hemangioma of infancy · Large segmental hemangioma

Kaposiform hemangioendothelioma

Keratolytic winter erythema

Erythrokeratolysis hiemalis · Oudtshoorn disease

Laminopathy with premature aging

Late-onset primary lymphedema without systemic or visceral involvement

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

Lichen myxedematosus

Littoral cell hemangioma of the spleen

Littoral cell angioma · LCA

Localized lichen myxedematosus

Papular mucinosis