Rare Disease Library

Charcot-Marie-Tooth disease type 4C

CMT4C

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

Charcot-Marie-Tooth disease type 4F

CMT4F

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

Charcot-Marie-Tooth disease type 4H

CMT4H

Charcot-Marie-Tooth disease type 4J

CMT4J

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

CHARGE syndrome

CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

Charlie M syndrome

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

CHD8 overgrowth syndrome

Chromodomain helicase DNA binding protein 8 overgrowth syndrome · CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome

Chédiak-Higashi syndrome

Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome

Cheilitis glandularis

Cheirospondyloenchondromatosis

Generalized enchondromatosis with platyspondyly · Enchondromatosis Spranger, type VI

Cherubism

CRBM

Chikungunya

Chilblain lupus

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

Childhood absence epilepsy

Pyknolepsy

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood occipital visual epilepsy

COVE · Idiopathic chilldhood occipital epilepsy-Gastaut type

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Childhood-onset basal ganglia degeneration syndrome

Lenk-Ploski syndrome

Childhood-onset benign chorea with striatal involvement

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency

Childhood-onset epilepsy syndrome

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

CONDBA

Childhood-onset nemaline myopathy

Mild nemaline myopathy

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Choanal atresia

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Choanal atresia, bilateral

Choanal atresia, unilateral

Cholangiocarcinoma

Bile duct cancer · CCA

Choledochal cyst

Congenital cystic dilatation of the biliary tract

Cholera

Cholestasis-lymphedema syndrome

Aagenaes syndrome

Cholesteryl ester storage disease

Cholesterol ester storage disease