Rare Disease Library

Granulomatosis with polyangiitis

GPA · Wegener granulomatosis

Hemihyperplasia-multiple lipomatosis syndrome

HHML

Hepatosplenic T-cell lymphoma

Hereditary benign intraepithelial dyskeratosis

HBID · Hereditary benign corneal intraepithelial dyskeratosis

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

Hyaline fibromatosis syndrome

Hyperkeratosis lenticularis perstans

Flegel disease

Hyperkeratosis-hyperpigmentation syndrome

Hypertrophic or verrucous lupus erythematosus

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Dykes-Marks-Harper syndrome

Infantile digital fibromatosis

Inclusion body fibromatosis · Recurring digital fibrous tumor of childhood

Infantile myofibromatosis

Infantile onset panniculitis with uveitis and systemic granulomatosis

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Isolated anogenital granulomatosis

AGG

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

Kaposiform lymphangiomatosis

Keratosis follicularis spinulosa decalvans

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

Keratosis pilaris atrophicans

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

Lichen myxedematosus

Linear IgA dermatosis

Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy

Liver adenomatosis

Hepatic adenomatosis

Localized lichen myxedematosus

Papular mucinosis

Localized lichen myxedematosus with mixed features of different subtypes

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

Lupus erythematosus panniculitis

Lupus erythematosus profundus

Lupus erythematosus tumidus

Intermittent cutaneous lupus

Lymphangioleiomyomatosis

LAM

Lymphomatoid granulomatosis

LYG

Metachondromatosis

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

MC-HGA

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

Mosaic NF2-related schwannomatosis

Mosaic neurofibromatosis type 2 · Mosaic NF2

Mosaic schwannomatosis

Mosaic SWN · MNF3

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome

Multiple non-ossifying fibromatosis

Jaffe-Campanacci syndrome

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

Neonatal hemochromatosis

Neonatal lupus erythematosus

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

NF-1 · NF1