Rare Disease Library

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

CPT2, hepatocardiomuscular form · CPT2, severe infantile form

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Chronic endophthalmitis

Chronic thromboembolic pulmonary hypertension

CTEPH

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

COMMAD syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Combined malonic and methylmalonic acidemia

CMAMMA · Combined malonic and methylmalonic aciduria

Combined pulmonary fibrosis-emphysema syndrome

CPFE

Common arterial trunk with pulmonary dominance and interrupted aortic arch

Communicating congenital bronchopulmonary-foregut malformation

Complete cryptophthalmia

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Congenital multicore myopathy with external ophthalmoplegia

Congenital partial pulmonary venous return anomaly

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

Congenital pulmonary sequestration

Congenital bronchopulmonary sequestration

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital pulmonary veins anomaly

Congenital pulmonary veins atresia or stenosis

Congenital pulmonary venous return anomaly

Congenital pulmonary venous connection anomaly

Congenital total pulmonary venous return anomaly

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Cryptophthalmia

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay due to ALDH6A1 deficiency · Developmental delay due to MMSDH deficiency

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

Diffuse palmoplantar keratoderma with painful fissures

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

Diffuse palmoplantar keratoderma, Bothnian type

Diffuse palmoplantar keratoderma, Bothnia type · NEPPK, Bothnian type