Rare Disease Library

Limited dorsal myeloschisis

LDM

Limited systemic sclerosis

Progressive systemic sclerosis · Scleroderma

Linear and whorled nevoid hypermelanosis

LWNH

Linear atrophoderma of Moulin

Linear focal elastosis

Linear focal dermal elastosis · Elastotic striae

Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

RHOA-related mosaic ectodermal dysplasia

Linear IgA dermatosis

Linear lichen planus

Blaschkoid LP · Blaschkoid lichen planus

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

Linear verrucous nevus syndrome

Linear hamartoma syndrome

LIPE-related familial partial lipodystrophy

FPLD6 · LIPE-related FPLD

Lipid storage disease

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

Lipoblastoma

Lipodystrophy due to peptidic growth factors deficiency

Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

Lipoic acid biosynthesis defect

Lipoate biosynthesis defect

Lipoic acid synthetase deficiency

Lipoid proteinosis

Hyalinosis cutis et mucosae · Urbach-Wiethe disease

Lipomatous non-saccular limited dorsal myeloschisis

Lipomatous flat LDM · Lipomatous non-saccular LDM

Lipomyelomeningocele

Lipoprotein glomerulopathy

LPG

Liposarcoma

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Lisch epithelial corneal dystrophy

Band-shaped and whorled microcystic dystrophy of the corneal epithelium · LECD

Lissencephaly

Lissencephaly due to LIS1 mutation

PAFAH1B1-related lissencephaly

Lissencephaly due to TUBA1A mutation

Lissencephaly syndrome, Norman-Roberts type

Microlissencephaly type A

Lissencephaly type 1 due to doublecortin gene mutation

X-linked lissencephaly type 1

Lissencephaly type 3

Lissencephaly type 3-familial fetal akinesia sequence syndrome

Lissencephaly type 3-metacarpal bone dysplasia syndrome

Lissencephaly with cerebellar hypoplasia

LCH

Lissencephaly with cerebellar hypoplasia type A

Lissencephaly with cerebellar hypoplasia type B

Lissencephaly with cerebellar hypoplasia type C

Lissencephaly with cerebellar hypoplasia type D

Lissencephaly with cerebellar hypoplasia type E

Lissencephaly with cerebellar hypoplasia type F

Listeriosis

Listeria infection

Littoral cell hemangioma of the spleen

Littoral cell angioma · LCA

Livedoid vasculopathy

Livedo reticularis with summer ulcerations · Segmental hyalinizing vasculitis

Liver adenomatosis

Hepatic adenomatosis

LMNA-related cardiocutaneous progeria syndrome

LCPS

Lobar holoprosencephaly