Rare Disease Library

LMNA-related cardiocutaneous progeria syndrome

LCPS

Isolated rare lymphatic malformation

LM · Lymphangioma

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

Laurence-Moon syndrome

LMS

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

Limb-mammary syndrome

LMS

Abnormal origin of right or left pulmonary artery from the aorta

Pulmonary artery coming from the aorta · Hemitruncus arteriosus

Abnormal origin of the pulmonary artery

Absence of the pulmonary artery

Unilateral Pulmonary Artery Absence · Aplasia of pulmonary artery

Acquired purpura fulminans

Acute endophthalmitis

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset CPEO with mitochondrial myopathy

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

Angelman syndrome

Angelman syndrome due to a point mutation

Angelman syndrome due to imprinting defect in 15q11-q13

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to maternal monosomy 15q11q13

Angelman syndrome due to paternal uniparental disomy of chromosome 15

UPD(15)pat

Anomalous origin of coronary artery from the pulmonary artery

ACAPA

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

Cassia Stocco dos Santos syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Aquagenic palmoplantar keratoderma

Aquagenic keratoderma · Transient reactive papulotranslucent acrokeratoderma

Arrhinia-choanal atresia-microphthalmia syndrome

Autoimmune pulmonary alveolar proteinosis

Autoimmune PAP · aPAP

Autosomal dominant brachyolmia

Brachyolmia type 3

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type

Autosomal dominant progressive external ophthalmoplegia

adPEO

Autosomal recessive brachyolmia

Brachyolmia, Hobaek/Toledo type

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome

Autosomal recessive progressive external ophthalmoplegia

arPEO

Bone dysplasia, lethal Holmgren type

Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type

Brachyolmia

Brachyolmia type 1, Hobaek type

Brachyolmia type 1, Toledo type

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

Brachyolmia, Maroteaux type

Brachyolmia type 2

Brachytelephalangy-dysmorphism-Kallmann syndrome

Bronchopulmonary dysplasia

BPD

Camurati-Engelmann disease

Progressive diaphyseal dysplasia

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency