Rare Disease Library

OBSOLETE: Niemann-Pick disease type E

OBSOLETE: Pediatric Castleman disease

OBSOLETE: Primary lymphedema with associated anomalies

OBSOLETE: Symptomatic form of fragile X syndrome in female carriers

OBSOLETE: Syndromic lymphedema

OBSOLETE: Vibratory angioedema

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome

Papillary hemangioma

Papillary capillary hemangioma

Partially involuting congenital hemangioma

Pediatric systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

Pelizaeus-Merzbacher disease in female carriers

Pemphigus erythematosus

Seborrheic pemphigus · Senear-Usher syndrome

Pleural empyema

PLG-related hereditary angioedema with normal C1Inh

HAE · PLG-related HAE with normal C1 inhibitor

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Premature aging

Premature chromosome condensation with microcephaly and intellectual disability

Premature closure of the arterial duct

Premature closure of the patent ductus arteriosus

Primary lymphedema

Primary lymphedema with systemic or visceral involvement

Primary lymphedema without systemic or visceral involvement

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

Pseudomyogenic hemangioendothelioma

Epithelioid sarcoma-like haemangioendothelioma · Fibroma-like variant of epithelioid sarcoma

Pseudopapilledema

Pulmonary capillary hemangiomatosis

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Rapidly involuting congenital hemangioma

RICH

Rare acquired premature ovarian failure

Rare central precocious puberty in female

Rare central precocious puberty in girl · Rare CPP in female

Rare cutaneous lupus erythematosus

Rare disorder potentially indicated for hematopoietic stem cell transplant

Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

Rare female infertility

Rare female infertility due to a congenital hypogonadotropic hypogonadism

Rare female infertility due to adrenal disorder of genetic origin

Rare female infertility due to an adrenal disorder

Rare female infertility due to an anomaly of ovarian function

Rare female infertility due to an anomaly of ovarian function of genetic origin

Rare female infertility due to an implantation defect

Rare female infertility due to gonadal dysgenesis

Rare female infertility due to ovarian dysgenesis

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder

Rare female infertility due to gonadotropic axis disorder · Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder

Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

Rare female infertility due to gonadotropic axis disorder of genetic origin · Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin

Rare female infertility due to oocyte maturation defect

Rare genetic female infertility

Rare genetic hematologic disease

Rare genetic premature ovarian failure

Rare hematologic disease