Rare Disease Library

Localized dystrophic epidermolysis bullosa

Localized DEB

Localized dystrophic epidermolysis bullosa, acral form

Localized DEB, acral form

Localized dystrophic epidermolysis bullosa, nails only

Localized DEB, nails only

Localized dystrophic epidermolysis bullosa, pretibial form

DEB-Pt · Localized DEB, pretibial form

Localized epidermolysis bullosa simplex

EBS-loc · Epidermolysis bullosa simplex of palms and soles

Localized junctional epidermolysis bullosa

JEB-nH loc · Junctional epidermolysis bullosa, non-Herlitz localized type

Localized lichen myxedematosus

Papular mucinosis

Localized lichen myxedematosus with mixed features of different subtypes

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

Localized lipodystrophy

Localized pagetoid reticulosis

Pagetoid reticulosis, Woringer-Kolopp type

Localized pleural mesothelioma

Localized scleroderma

Localized fibrosing scleroderma

Locked-in syndrome

Pseudocoma · LIS

Loeffler endocarditis

Eosinophilic endocarditis

Loeys-Dietz syndrome

Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Logopenic progressive aphasia

LPA · Logopenic primary progressive aphasia

Loiasis

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Longitudinal vaginal septum

Loose anagen syndrome

Low oxygen affinity gamma chain hemoglobin disease

Low phospholipid-associated cholelithiasis

LPAC · ABCB4-related cholelithiasis

Low-flow priapism

Low-grade astrocytoma

Low-grade neuroendocrine tumor of the corpus uteri

Low-grade neuroendocrine tumor of the uterine corpus · Well-differentiated neuroendocrine tumor of the corpus uteri

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

Lower limb hypertrophy

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

Lower motor neuron syndrome with late-adult onset

Spinal muscular atrophy, Jokela type · SMAJ

Lowry-MacLean syndrome

Lowry-Wood syndrome

Epiphyseal dysplasia-microcephaly-nystagmus syndrome

LRP5-related primary osteoporosis

Lujan-Fryns syndrome

X-linked intellectual disability with marfanoid habitus

Lujo hemorrhagic fever

Zambian hemorrhagic fever

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Lung agenesis-heart defect-thumb anomalies syndrome

Mardini-Nyhan syndrome

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Lupus erythematosus panniculitis

Lupus erythematosus profundus

Lupus erythematosus tumidus

Intermittent cutaneous lupus

Luscan-Lumish syndrome

SETD2-related overgrowth syndrome

Lyme disease

Lyme borreliosis

Lymphatic filariasis

Lymphedema with yellow nails

Yellow nail syndrome · YNS

Lymphedema-atrial septal defects-facial changes syndrome

Irons-Bianchi syndrome · Irons-Bhan syndrome

Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

Lymphedema-distichiasis syndrome