Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [C]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• Cogan corneal dystrophy - See Epithelial basement membrane corneal dystrophy
• Cogan syndrome - See Cogan's syndrome
• Cogan-Reese syndrome
• Cogan's syndrome
• Cogan's syndrome type 2 - See Oculomotor apraxia Cogan type
• COH1 - See Cohen syndrome
• Cohen Lockood Wyborney syndrome
• Cohen syndrome
• Cohen-Hayden syndrome - See Proteus-like syndrome
• Cohesinopathy affecting heart and gut rhythm - See CAID syndrome
• COL2A1 - See Collagenopathy type 2 alpha 1
• Colavita Kozlowski syndrome - See Short limb dwarf lethal Colavita Kozlowski type
• Cold agglutinin disease
• Cold antibody disease - See Cold agglutinin disease
• Cold antibody hemolytic anemia - See Cold agglutinin disease
• Cold contact urticaria - See Cold urticaria
• Cold urticaria
• Cold-induced painful or pruritic erythematous or violaceous acral papular or nodular lesions - See Perniosis
• Cold-induced sweating syndrome
• Cole Carpenter syndrome
• Cole disease
• Cole-Hughes syndrome - See Macrocephaly, benign familial
• Collagen II - See Collagenopathy type 2 alpha 1
• Collagen VI related muscular dystrophy
• Collagenopathy type 2 alpha 1
• Collagenous colitis - not a rare disease
• Collagenous gastritis
• Collagenous plaques of hand and feet - See Acrokeratoelastoidosis of Costa
• Collecting duct carcinoma
• Collecting duct carcinoma of the kidney - See Collecting duct carcinoma
• Collins Pope syndrome
• Collins Sakati syndrome
• Collodion fetus - See Ichthyosis lamellar 1
• Colloid cysts of third ventricle
• Coloboma of alar-nasal cartilages with telecanthus
• Coloboma of choroid and retina - See Retinochoroidal coloboma
• Coloboma of eye lens
• Coloboma of iris
• Coloboma of macula
• Coloboma of macula with type B brachydactyly
• Coloboma of optic nerve
• Coloboma of optic nerve with renal disease - See Renal coloboma syndrome
• Coloboma of optic papilla
• Coloboma porencephaly hydronephrosis
• Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies - See CHARGE syndrome
• COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES - See SRD5A3-CDG (CDG-Iq)
• Coloboma-microphthalmos syndrome - See Uveal coloboma-cleft lip and palate-intellectual disability
• Coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate - See Uveal coloboma-cleft lip and palate-intellectual disability
• Colobomata unilobar lung heart defect
• Colon cancer, familial nonpolyposis - See Lynch syndrome - not a rare disease
• Colonic atresia
• Colonic malakoplakia
• Colonic type adenocarcinoma - See Adenocarcinoma of the appendix
• Color blindness blue mono cone monochromatic type - See Blue cone monochromatism
• Colorblindness, total - See Achromatopsia 2
• Colorectal cancer, familial - See Familial colorectal cancer
• Colorectal cancer, hereditary nonpolyposis - See Lynch syndrome - not a rare disease
• Colpocephaly
• Columnar-like esophagus - See Barrett esophagus - not a rare disease
• Colver Steer Godman syndrome
• COMA - See Oculomotor apraxia Cogan type
• Coma basedovicum - See Basedow's coma
• Combarros Calleja Leno syndrome
• Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis - See Raine syndrome
• Combined cellular and humoral immune defects with granulomas - See Combined immunodeficiency with skin granulomas
• Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD - See Methylmalonic acidemia with homocystinuria type cblD
• Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF - See Methylmalonic acidemia with homocystinuria type cblF
• Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ - See Methylmalonic acidemia with homocystinuria type cblJ
• Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX - See Methylmalonic acidemia and homocysteinemia type cblX
• Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase - See Molybdenum cofactor deficiency
• Combined granular-lattice corneal dystrophies - See Corneal dystrophy Avellino type
• Combined immunodeficiency due to LRBA deficiency - See LRBA deficiency
• Combined immunodeficiency due to MAGT1 deficiency - See X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• Combined immunodeficiency due to partial RAG1 deficiency
• Combined immunodeficiency due to PGM3 deficiency - See PGM3-CDG
• Combined immunodeficiency due to RAG 1/2 deficiency - See Combined immunodeficiency with skin granulomas
• Combined immunodeficiency with expansion of gamma delta T cells - See Combined immunodeficiency due to partial RAG1 deficiency
• Combined immunodeficiency with granulomatosis - See Combined immunodeficiency with skin granulomas
• Combined immunodeficiency with skin granulomas
• Combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections - See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
• Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency - Another name for Lipodystrophy due to peptidic growth factors deficiency
• Combined malonic and methylmalonic aciduria
• Combined oxidative phosphorylation defect type 12 - See Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Combined oxidative phosphorylation defect type 16 - See Combined oxidative phosphorylation deficiency 16
• Combined oxidative phosphorylation deficiency
• Combined oxidative phosphorylation deficiency 12 - See Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Combined oxidative phosphorylation deficiency 16
• Combined pituitary hormone deficiencies, genetic forms
• Combined prosaposin deficiency - See Sphingolipidosis
• Combined SAP deficiency - See Sphingolipidosis
• COMBINED SAPOSIN DEFICIENCY - See Sphingolipidosis
• Comedo naevus - See Nevus comedonicus
• Comedone naevus - See Nevus comedonicus
• Common atrioventricular canal - See Complete atrioventricular canal
• Common ichthyosis - See Ichthyosis vulgaris
• COMMON syndrome - See BAP1 tumor predisposition syndrome
• Common variable hypogamma-globulinemia - See Common variable immunodeficiency
• Common variable immune deficiency - See Common variable immunodeficiency
• Common variable immunodeficiency
• Common variable immunodeficiency-8 (CVID8) with autoimmunity - See LRBA deficiency
• Common variable OI with normal sclerae - See Osteogenesis imperfecta type IV
• Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts - See HEC syndrome
• Compartment syndrome
• Complement component 2 deficiency
• Complement component 5 deficiency
• Complement component 8 deficiency type 1
• Complement component 8 deficiency type 2
• Complement component 8 deficiency type I - See Complement component 8 deficiency type 1
• Complement component 8 deficiency type II - See Complement component 8 deficiency type 2
• Complement component deficiency
• Complement component receptor 1
• Complement receptor deficiency
• Complete absence of breasts - See Absent breasts and nipples
• Complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet - See Ulnar hypoplasia lobster claw deformity of feet
• Complete agenesis of the dorsal pancreas - See Agenesis of the dorsal pancreas
• Complete androgen insensitivity syndrome
• Complete atrioventricular canal
• Complete atrioventricular septal defect - See Complete atrioventricular canal
• Complete HPRT deficiency complete - See Lesch Nyhan syndrome
• Complete LCAT deficiency - See Familial LCAT deficiency
• Complete mevalonate kinase deficiency - See Mevalonic aciduria
• Complete trisomy 13 syndrome - See Trisomy 13
• Complex 1 mitochondrial respiratory chain deficiency - See Mitochondrial complex I deficiency
• Complex 2 mitochondrial respiratory chain deficiency - See Mitochondrial complex II deficiency
• Complex 3 mitochondrial respiratory chain deficiency - See Mitochondrial complex III deficiency
• Complex 4 mitochondrial respiratory chain deficiency - See Cytochrome c oxidase deficiency
• Complex 5 mitochondrial respiratory chain deficiency - See Mitochondrial complex V deficiency
• Complex carbohydrate intolerance - See Glucose-galactose malabsorption
• Complex congenital heart defect, renal agenesis and cleft lip and palate - See Holzgreve syndrome
• Complex familial seizure disorder - See Kifafa seizure disorder
• Complex IV deficiency - See Cytochrome c oxidase deficiency
• Complex malformation syndrome with brachymesomelia - See Le Marec Bracq Picaud syndrome
• Complex of anomalies involving the cranium and brain - See Craniotelencephalic dysplasia
• Complex regional pain syndrome
• Concentric demyelination - See Tumefactive multiple sclerosis
• COND - See Hutterite cerebroosteonephrodysplasia syndrome
• CONDBA - See Childhood-onset neurodegeneration with brain atrophy
• Condensing osteitis of the clavicle
• Condensing osteitis of the medial clavicle - See Condensing osteitis of the clavicle
• Condrodisplasia punctata rizomélica
• Conductive deafness - malformed external ear - See Conductive deafness with malformed external ear
• Conductive deafness with malformed external ear
• Conductive hearing loss and malformed low-set ears - See Conductive deafness with malformed external ear
• Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia - See Thickened earlobes with conductive deafness from incus-stapes abnormalities
• Cone dystrophy
• Cone dystrophy autosomal dominant - See Retinal cone dystrophy 1
• Cone dystrophy progressive - See Retinal cone dystrophy 2
• Cone dystrophy with night blindness and supernormal rod responses KCNV2 related - See Retinal cone dystrophy 3B
• Cone dystrophy with night blindness and supernormal rod responses PDE6H-related - See Retinal cone dystrophy 3A
• Cone dystrophy X-linked 1 - See Cone-rod dystrophy X-linked 1
• Cone dystrophy X-linked 2 - See Cone-rod dystrophy X-linked 2
• Cone dystrophy X-linked with tapetal-like sheen
• Cone-rod degeneration X-linked - See Retinitis pigmentosa
• Cone-rod dystrophy
• Cone-rod dystrophy 1
• Cone-rod dystrophy 2
• Cone-rod dystrophy 3
• Cone-rod dystrophy 5
• Cone-rod dystrophy 6
• Cone-rod dystrophy amelogenesis imperfecta
• Cone-rod dystrophy with amelogenesis imperfecta - See Cone-rod dystrophy amelogenesis imperfecta
• Cone-rod dystrophy X-linked 1
• Cone-rod dystrophy X-linked 2
• Cone-rod dystrophy X-linked 3
• Cone-rod retinal dystrophy 2 - See Cone-rod dystrophy 2
• Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies - See Ablepharon macrostomia syndrome
• Congenital absence of fingerprints - See Adermatoglyphia
• Congenital absence of gluteal muscles - See Absence of gluteal muscle
• Congenital absence of nose and anterior nasopharynx - See Arhinia choanal atresia microphthalmia
• Congenital absence of skin on the upper or lower limbs - See Aplasia cutis congenita of limbs recessive
• Congenital absence of testes - See Anorchia
• Congenital absence of the heart - See Acardia
• Congenital absence of the nose - See Arrhinia
• Congenital absence of the pulmonary artery - See Unilateral absence of a pulmonary artery
• Congenital absence of the rods and cones - See Leber congenital amaurosis
• Congenital absence of the sternocleidomastoid muscle
• Congenital absence of the uterus and vagina (CAUV) - See Mullerian aplasia
• Congenital absence of uterus and vagina - See Mullerian aplasia
• Congenital adrenal hyperplasia
• Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - See 11-beta-hydroxylase deficiency
• Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - See 17-alpha-hydroxylase deficiency
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - See 21-hydroxylase deficiency
• Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Congenital adrenal hyperplasia due to cytochrome POR deficiency - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Congenital adrenal hyperplasia lipoid - See Congenital lipoid adrenal hyperplasia
• Congenital adrenal hyperplasia type 5 - See 17-alpha-hydroxylase deficiency
• Congenital adrenal hypoplasia - See X-linked adrenal hypoplasia congenita
• Congenital afibrinogenemia - See Afibrinogenemia
• Congenital agenesis of the tricuspid valve - See Tricuspid atresia
• Congenital aleukia - See Reticular dysgenesis
• Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
• Congenital alveolar capillary dysplasia - See Alveolar capillary dysplasia
• Congenital amegakaryocytic thrombocytopenia
• Congenital amputation
• Congenital analbuminemia
• Congenital aneurysms of the great vessels
• Congenital anomalies, involving mainly the face, thorax, and genitalia - See Facio thoraco genital syndrome
• Congenital anonychia - See Anonychia congenita
• Congenital anosmia
• Congenital anterior megalophthalmia - See Isolated congenital megalocornea
• Congenital Antithrombin III Deficiency - See Hereditary antithrombin deficiency
• Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy - See Hamanishi Ueba Tsuji syndrome
• Congenital aplastic anemia
• Congenital arteriovenous shunt
• Congenital arthromyodysplasia - See Arthrogryposis multiplex congenita
• Congenital articular rigidity
• Congenital AT-III deficiency - See Hereditary antithrombin deficiency
• Congenital atresia of the small intestine - See Atresia of small intestine
• Congenital atrophoderma of Pasini and Pierini - See Atrophoderma of Pierini and Pasini
• Congenital benign spinal muscular atrophy dominant
• Congenital betalipoprotein deficiency syndrome - See Abetalipoproteinemia
• Congenital bilateral absence of the vas deferens
• Congenital bilateral aplasia of vas deferens - See Congenital bilateral absence of the vas deferens
• Congenital bilateral metadiaphyseal acrodysplasia of the little finger - See Dystelephalangy
• Congenital bilateral perisylvian syndrome - See Bilateral perisylvian polymicrogyria
• Congenital bilateral recurrent nerve paralysis and ptosis - See Tucker syndrome
• Congenital bile acid synthesis defect type 1 - See Congenital bile acid synthesis defect, type 1
• Congenital bile acid synthesis defect, type 1
• Congenital bile acid synthesis defect, type 2
• Congenital bowing with short bones - See Kyphomelic dysplasia
• Congenital bronchobiliary fistula
• Congenital bullous ichthyosiform erythroderma - See Epidermolytic ichthyosis
• Congenital bullous poikiloderma - See Kindler syndrome
• Congenital cardiovascular shunt
• Congenital cataract with microphthalmia - See Microphthalmia with cataract 1
• Congenital cataract with multiple congenital anomalies in a sibship - See Karandikar Maria Kamble syndrome
• Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - See Sengers syndrome
• Congenital cataracts, renal tubular necrosis and encephalopathy in two sisters - See Crome syndrome
• Congenital central hypoventilation syndrome
• Congenital cerebral granulomas - See Granulomas, congenital cerebral
• Congenital chloride diarrhea
• Congenital chloridorrhea - See Congenital chloride diarrhea
• Congenital choledochal cyst - See Bile duct cysts
• Congenital cholesteatoma (type) - See Cholesteatoma
• Congenital chylous ascites - See Chylous ascites
• Congenital coloboma of the optic nerve - See Coloboma of optic nerve
• Congenital constricting bands - See Amniotic band syndrome
• Congenital contractural arachnodactyly
• Congenital contractures
• Congenital contractures of the digits - See Windblown hand
• Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment - See Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
• Congenital convex pes valgus - See Congenital vertical talus
• Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation - See Ramos Arroyo Clark syndrome
• Congenital corneal dystrophy, progressive sensorineural deafness - See Corneal dystrophy and perceptive deafness
• Congenital coxa vara, patella aplasia and tarsal synostosis - See Small patella syndrome
• Congenital craniosynostosis maternal hyperthyroiditis
• Congenital cutaneous multifocal kaposiform hemangioendothelioma - See Kaposiform Hemangioendothelioma
• Congenital cutaneous neurilemmomatosis - See Schwannomatosis
• Congenital cystic adenomatoid malformation - See Cystic adenomatoid malformation of lung
• Congenital cystic eye
• Congenital cystic eye multiple ocular and intracranial anomalies
• Congenital cytomegalovirus
• Congenital deafness with inner ear agenesis microtia and microdontia - See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
• Congenital deafness with vitiligo and achalasia
• Congenital defect of folate absorption - See Hereditary folate malabsorption
• Congenital defect of skull and scalp - See Aplasia cutis congenita
• Congenital deformity of the thumb and congenital alopecia - See Thumb deformity, alopecia, pigmentation anomaly
• Congenital diaphragmatic defect - See Congenital diaphragmatic hernia
• Congenital diaphragmatic hernia
• Congenital dislocation of the patella
• Congenital disorder of deglycosylation;CDDG - See Deficiency of N-glycanase 1
• Congenital disorder of glycosylation - See Congenital disorders of glycosylation
• Congenital disorder of glycosylation due to PIGM deficiency - See Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Congenital disorder of glycosylation due to PIGN deficiency - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
• Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency - See SRD5A3-CDG (CDG-Iq)
• Congenital disorder of glycosylation type 1a - See PMM2-CDG (CDG-Ia)
• Congenital disorder of glycosylation type 1c - See ALG6-CDG (CDG-Ic)
• Congenital disorder of glycosylation type 1d - See ALG3-CDG (CDG-Id)
• Congenital disorder of glycosylation type 1e - See DPM1-CDG (CDG-Ie)
• Congenital disorder of glycosylation type 1f - See MPDU1-CDG (CDG-If)
• Congenital disorder of glycosylation type 1g - See ALG12-CDG (CDG-Ig)
• Congenital disorder of glycosylation type 1h - See ALG8-CDG (CDG-Ih)
• Congenital disorder of glycosylation type 1i - See ALG2-CDG (CDG-Ii)
• Congenital disorder of glycosylation type 1j - See DPAGT1-CDG (CDG-Ij)
• Congenital disorder of glycosylation type 1k - See ALG1-CDG (CDG-Ik)
• Congenital disorder of glycosylation type 1L - See ALG9-CDG (CDG-IL)
• Congenital disorder of glycosylation type 1m - See DOLK-CDG (CDG-Im)
• Congenital disorder of glycosylation type 1n - See RFT1-CDG (CDG-In)
• Congenital disorder of glycosylation type 1o - See DPM3-CDG (CDG-Io)
• Congenital disorder of glycosylation type 1p - See ALG11-CDG (CDG-Ip)
• Congenital disorder of glycosylation type 1q - See SRD5A3-CDG (CDG-Iq)
• Congenital disorder of glycosylation type 1r - See DDOST-CDG (CDG-Ir)
• Congenital disorder of glycosylation type 1s - See ALG13-CDG
• Congenital disorder of glycosylation type 1t - See PGM1-CDG
• Congenital disorder of glycosylation type 1u - See DPM2-CDG
• Congenital disorder of glycosylation type 1y - See SSR4-CDG
• Congenital disorder of glycosylation type 1z - See CAD-CDG
• Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency - See MAN1B1-CDG
• Congenital disorder of glycosylation type 2a - See MGAT2-CDG (CDG-IIa)
• Congenital disorder of glycosylation type 2b - See MOGS-CDG (CDG-IIb)
• Congenital disorder of glycosylation type 2d - See B4GALT1-CDG (CDG-IId)
• Congenital disorder of glycosylation type 2e - See COG7-CDG (CDG-IIe)
• Congenital disorder of glycosylation type 2f - See SLC35A1-CDG (CDG-IIf)
• Congenital disorder of glycosylation type 2G - See COG1-CDG (CDG-IIg)
• Congenital disorder of glycosylation type 2h - See COG8-CDG (CDG-IIh)
• Congenital disorder of glycosylation type 2i - See COG5-CDG (CDG-IIi)
• Congenital disorder of glycosylation type 2j - See COG4-CDG (CDG-IIj)
• Congenital disorder of glycosylation type 2k - See TMEM165-CDG (CDG-IIk)
• Congenital disorder of glycosylation type 2m - See SLC35A2-CDG
• Congenital disorder of glycosylation type I/IIX
• Congenital disorder of glycosylation type Ia - See PMM2-CDG (CDG-Ia)
• Congenital disorder of glycosylation type Ic - See ALG6-CDG (CDG-Ic)
• Congenital disorder of glycosylation type Id - See ALG3-CDG (CDG-Id)
• Congenital disorder of glycosylation type Ie - See DPM1-CDG (CDG-Ie)
• Congenital disorder of glycosylation type If - See MPDU1-CDG (CDG-If)
• Congenital disorder of glycosylation type Ig - See ALG12-CDG (CDG-Ig)
• Congenital disorder of glycosylation type Ih - See ALG8-CDG (CDG-Ih)
• Congenital disorder of glycosylation type Ii - See ALG2-CDG (CDG-Ii)
• Congenital disorder of glycosylation type II due to MAN1B1 deficiency - See MAN1B1-CDG
• Congenital disorder of glycosylation type IIA - See MGAT2-CDG (CDG-IIa)
• Congenital disorder of glycosylation type IIB - See MOGS-CDG (CDG-IIb)
• Congenital disorder of glycosylation type IIC - See SLC35C1-CDG (CDG-IIc)
• Congenital disorder of glycosylation type IID - See B4GALT1-CDG (CDG-IId)
• Congenital disorder of glycosylation type IIe - See COG7-CDG (CDG-IIe)
• Congenital disorder of glycosylation type IIf - See SLC35A1-CDG (CDG-IIf)
• Congenital disorder of glycosylation type IIg - See COG1-CDG (CDG-IIg)
• Congenital disorder of glycosylation type IIh - See COG8-CDG (CDG-IIh)
• Congenital disorder of glycosylation type IIi - See COG5-CDG (CDG-IIi)
• Congenital disorder of glycosylation type IIj - See COG4-CDG (CDG-IIj)
• Congenital disorder of glycosylation type IIk - See TMEM165-CDG (CDG-IIk)
• Congenital disorder of glycosylation type IIm - See SLC35A2-CDG
• Congenital disorder of glycosylation type Ij - See DPAGT1-CDG (CDG-Ij)
• Congenital disorder of glycosylation type Ik - See ALG1-CDG (CDG-Ik)
• Congenital disorder of glycosylation type IL - See ALG9-CDG (CDG-IL)
• Congenital disorder of glycosylation type Im - See DOLK-CDG (CDG-Im)
• Congenital disorder of glycosylation type In - See RFT1-CDG (CDG-In)
• Congenital disorder of glycosylation type Io - See DPM3-CDG (CDG-Io)
• Congenital disorder of glycosylation type Ip - See ALG11-CDG (CDG-Ip)
• Congenital disorder of glycosylation type Iq - See SRD5A3-CDG (CDG-Iq)
• Congenital disorder of glycosylation type Ir - See DDOST-CDG (CDG-Ir)
• Congenital disorder of glycosylation type Is - See ALG13-CDG
• Congenital disorder of glycosylation type It - See PGM1-CDG
• Congenital disorder of glycosylation type Iu - See DPM2-CDG
• Congenital disorder of glycosylation type IV; CDG1V - See Deficiency of N-glycanase 1
• Congenital disorder of glycosylation type Iy - See SSR4-CDG
• Congenital disorder of glycosylation type Iz - See CAD-CDG
• Congenital disorder of glycosylation with developmental anomaly
• Congenital disorder of glycosylation, type Ia - See PMM2-CDG (CDG-Ia)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib - See MPI-CDG (CDG-Ib)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic - See ALG6-CDG (CDG-Ic)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id - See ALG3-CDG (CDG-Id)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie - See DPM1-CDG (CDG-Ie)
• Congenital disorder of glycosylation, type If - See MPDU1-CDG (CDG-If)
• Congenital disorder of glycosylation, type Ig - See ALG12-CDG (CDG-Ig)
• Congenital disorder of glycosylation, type Ih - See ALG8-CDG (CDG-Ih)
• Congenital disorder of glycosylation, type Ii - See ALG2-CDG (CDG-Ii)
• Congenital disorder of glycosylation, type IIa - See MGAT2-CDG (CDG-IIa)
• Congenital disorder of glycosylation, type IIb - See MOGS-CDG (CDG-IIb)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc - See SLC35C1-CDG (CDG-IIc)
• Congenital disorder of glycosylation, type IId - See B4GALT1-CDG (CDG-IId)
• Congenital disorder of glycosylation, type IIe - See COG7-CDG (CDG-IIe)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf - See SLC35A1-CDG (CDG-IIf)
• Congenital disorder of glycosylation, type IIg - See COG1-CDG (CDG-IIg)
• Congenital disorder of glycosylation, type IIh - See COG8-CDG (CDG-IIh)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi - See COG5-CDG (CDG-IIi)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj - See COG4-CDG (CDG-IIj)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk - See TMEM165-CDG (CDG-IIk)
• Congenital disorder of glycosylation, type IIl - See COG6-CDG (CDG-IIL)
• Congenital disorder of glycosylation, type IIm - See SLC35A2-CDG
• Congenital disorder of glycosylation, type Ij - See DPAGT1-CDG (CDG-Ij)
• Congenital disorder of glycosylation, type Ik - See ALG1-CDG (CDG-Ik)
• Congenital disorder of glycosylation, type Il - See ALG9-CDG (CDG-IL)
• Congenital disorder of glycosylation, type Im - See DOLK-CDG (CDG-Im)
• Congenital disorder of glycosylation, type In - See RFT1-CDG (CDG-In)
• Congenital disorder of glycosylation, type Io - See DPM3-CDG (CDG-Io)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip - See ALG11-CDG (CDG-Ip)
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq - See SRD5A3-CDG (CDG-Iq)
• Congenital disorder of glycosylation, type Ir - See DDOST-CDG (CDG-Ir)
• Congenital disorder of glycosylation, type Is - See ALG13-CDG
• Congenital disorder of glycosylation, type It - See PGM1-CDG
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu - See DPM2-CDG
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw - See STT3A-CDG and STT3B-CDG
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix - See STT3A-CDG and STT3B-CDG
• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy - See SSR4-CDG
• Congenital disorders of glycosylation
• Congenital dyserythropoietic anemia
• Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis - See Majeed syndrome
• Congenital dyserythropoietic anemia type 1
• Congenital dyserythropoietic anemia type 2
• Congenital dyserythropoietic anemia type 3
• Congenital dyserythropoietic anemia type II - See Congenital dyserythropoietic anemia type 2
• Congenital dysfibrinogenemia - See Dysfibrinogenemia
• Congenital dysplasia of hip - See Developmental dysplasia of hip - not a rare disease
• Congenital ectodermal dysplasia with hearing loss
• Congenital elevation of the scapula - See Sprengel deformity
• Congenital enteropathy - See Tufting enteropathy
• Congenital erythrocytosis due to erythropoietin receptor mutation - See Primary familial and congenital polycythemia
• Congenital erythropoietic porphyria
• Congenital estrogen deficiency - See Aromatase deficiency
• Congenital extrahepatic portosystemic shunt
• Congenital extraocular muscle fibrosis with ulnar hand anomalies - See Tukel syndrome
• Congenital eye malformation in which the pupils are displaced from their normal central position - See Ectopia pupillae
• Congenital facial diplegia - See Moebius syndrome
• Congenital facial diplegia syndrome - See Moebius syndrome
• Congenital facial linear porokeratosis (type) - See Linear porokeratosis
• Congenital factor II deficiency - See Prothrombin deficiency
• Congenital factor XI deficiency - See Factor XI deficiency
• Congenital Factor XIII deficiency - See Factor XIII deficiency
• Congenital failure of autonomic control - See Congenital central hypoventilation syndrome
• Congenital familial hypertrophic synovitis - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Congenital familial intractable diarrhea with enterocytes assembly abnormalities - See Tufting enteropathy
• Congenital familial protracted diarrhea - See Microvillus inclusion disease
• Congenital familial protracted diarrhea with enterocyte brush-border abnormalities - See Microvillus inclusion disease
• Congenital femoral deficiency
• Congenital fiber type disproportion
• Congenital fiber-type disproportion myopathy - See Congenital fiber type disproportion
• Congenital fibrinogen deficiency - See Fibrinogen deficiency, congenital
• Congenital fibrosis of extraocular muscles
• Congenital filiform fusion of the eyelids with cleft palate and/or cleft lip - See Ankyloblepharon filiforme adnatum cleft palate
• Congenital fissure of the abdominal cavity - See Gastroschisis
• Congenital Foix-Chavany-Marie syndrome (subtype) - See Foix Chavany Marie syndrome
• Congenital folate malabsorption - See Hereditary folate malabsorption
• Congenital generalized fibromatosis
• Congenital generalized hypertrichosis, Macias-Flores type - See X-linked congenital generalized hypertrichosis
• Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 1
• Congenital generalized lipodystrophy type 2 - See Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 3
• Congenital generalized lipodystrophy type 4
• Congenital giant megaureter
• Congenital giant pigmented nevus - See Giant congenital nevus
• Congenital glutamine deficiency - See Glutamine deficiency, congenital
• Congenital hairy nevus - See Giant congenital nevus
• Congenital heart block
• Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure - See Cardiofaciocutaneous syndrome
• Congenital heart defects, hamartomas of tongue, and polysyndactyly - See Heart defect-tongue hamartoma-polysyndactyly syndrome
• Congenital heart disease ptosis hypodontia craniostosis
• Congenital heart disease radio ulnar synostosis mental retardation
• Congenital heart disease, deafness, and skeletal malformations - See Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
• Congenital heart disease, ptosis, hypodontia, and craniosynostosis - See Mehta Lewis Patton syndrome
• Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects - See CHILD syndrome
• Congenital hemolytic anemia
• Congenital hepatic fibrosis
• Congenital hereditary endothelial dystrophy of the cornea - See Corneal endothelial dystrophy type 2
• Congenital hereditary hematuria - See Alport syndrome
• Congenital hereditary lymphedema - See Milroy disease
• Congenital hereditary vertical nystagmus - See Nystagmus, hereditary vertical
• Congenital herpes simplex
• Congenital HIV - See Congenital human immunodeficiency virus
• congenital HSV infection - See Herpes virus antenatal infection
• Congenital human immunodeficiency virus
• Congenital hydrocephalus
• Congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism - See Hydrocephalus obesity hypogonadism
• Congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation - See Okamoto syndrome
• Congenital hyperinsulinism
• Congenital hypertrichosis lanuginosa - See Hypertrichosis lanuginosa congenita
• Congenital hypomelanotic and hypermelanotic macules - See Macules hereditary congenital hypopigmented and hyperpigmented
• Congenital hypomyelinating neuropathy (CHN) - See Charcot-Marie-Tooth disease
• Congenital hypomyelination neuropathy - See Charcot-Marie-Tooth disease
• Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita - See Boylan Dew Greco syndrome
• Congenital hypoplastic anemia - See Diamond-Blackfan anemia
• Congenital hypoplastic anemia, Blackfan-Diamond type - See Diamond-Blackfan anemia
• Congenital hypothyroidism
• Congenital hypotrichosis milia
• Congenital ichthyosiform erythroderma - See Nonbullous congenital ichthyosiform erythroderma
• Congenital ichthyosis with biliary atresia - See Ichthyosis congenita biliary atresia
• Congenital idiopathic intestinal pseudoobstruction - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• Congenital IGHD - See Isolated growth hormone deficiency type 1A
• Congenital IGHD - See Isolated growth hormone deficiency
• Congenital IGHD type IA - See Isolated growth hormone deficiency type 1A
• Congenital infiltrating lipomatosis of the face - See Facial infiltrating lipomatosis
• Congenital insensitivity to pain
• Congenital insensitivity to pain and thermal analgesia - See Hereditary sensory and autonomic neuropathy type V
• Congenital insensitivity to pain with anhidrosis
• Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction - See Hereditary sensory and autonomic neuropathy type 7
• Congenital intrauterine infection-like syndrome
• Congenital intrinsic factor deficiency - See Intrinsic factor deficiency
• Congenital isolated ACTH deficiency - See Isolated ACTH deficiency
• Congenital isolated GH deficiency - See Isolated growth hormone deficiency
• Congenital isolated GH deficiency - See Isolated growth hormone deficiency type 1A
• Congenital isolated GH deficiency type IA - See Isolated growth hormone deficiency type 1A
• Congenital isolated growth hormone deficiency - See Isolated growth hormone deficiency type 1A
• Congenital isolated growth hormone deficiency - See Isolated growth hormone deficiency
• Congenital isolated growth hormone deficiency type IA - See Isolated growth hormone deficiency type 1A
• Congenital isolated hyperinsulinism - See Congenital hyperinsulinism
• Congenital Isolated nail dysplasia - See Nail dysplasia, isolated congenital
• Congenital koilonychia - See Hereditary koilonychia
• Congenital lactase deficiency
• Congenital lamellar ichthyosis - See Lamellar ichthyosis
• Congenital Langerhans cell histiocytosis - See Hashimoto-Pritzker syndrome
• Congenital laryngeal palsy
• Congenital laryngeal stridor - See Laryngomalacia
• Congenital laryngomalacia - See Laryngomalacia
• Congenital lipoid adrenal hyperplasia
• Congenital lipoid adrenal hyperplasia due to STAR deficency - See Congenital lipoid adrenal hyperplasia
• Congenital lipomatosis of pancreas - See Shwachman-Diamond syndrome
• Congenital lipomatous overgrowth - vascular malformation - epidermal nevi - See CLOVES syndrome
• Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi - See CLOVES syndrome
• Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities - See CLOVES syndrome
• Congenital lobar emphysema
• Congenital longitudinal deficiency of the fibula - See Fibular hemimelia
• Congenital lung agenesis - See Lung agenesis
• Congenital lupus - See Neonatal systemic lupus erythematosus
• Congenital lupus erythematosus - See Neonatal systemic lupus erythematosus
• Congenital lymphedema
• Congenital macroglossia - See Macroglossia
• Congenital major airway collapse - See Congenital tracheomalacia
• Congenital MD - See Congenital muscular dystrophy
• Congenital megaconial myopathy - See Muscular dystrophy, congenital, megaconial type
• Congenital megalo-ureter
• Congenital melanocytosis with myelomeningocele and hydrocephalus - See Schwartz Cohen-Addad Lambert syndrome
• Congenital mesoblastic nephroma
• Congenital methemoglobinemia - See Hereditary methemoglobinemia
• Congenital MG - See Myasthenia gravis congenital
• Congenital microcoria
• Congenital microgastria and limb reduction defects - See Microgastria limb reduction defect
• Congenital microvillous atrophy - See Microvillus inclusion disease
• Congenital miosis - See Congenital microcoria
• Congenital mirror movement disorder
• Congenital mirror movements - See Congenital mirror movement disorder
• Congenital mitral malformation
• Congenital mitral stenosis
• Congenital multiple arthrogryposis - See Arthrogryposis multiplex congenita
• Congenital mumps
• Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
• Congenital muscular dystrophy
• Congenital muscular dystrophy due to dystroglycanopathy - See Congenital muscular dystrophy
• Congenital muscular dystrophy due to LMNA mutation - See Congenital muscular dystrophy
• Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect - See Muscular dystrophy, congenital, megaconial type
• Congenital muscular dystrophy type 1A
• Congenital muscular dystrophy with integrin alpha-7 deficiency - See Congenital muscular dystrophy
• Congenital muscular dystrophy with intellectual disability and severe epilepsy - See DPM2-CDG
• Congenital muscular dystrophy with ITGA7 deficiency - See Congenital muscular dystrophy
• Congenital muscular dystrophy with mitochondrial structural abnormalities - See Muscular dystrophy, congenital, megaconial type
• Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
• Congenital muscular torticollis - See Congenital torticollis
• Congenital Myasthenia - See Congenital myasthenic syndrome
• Congenital myasthenic syndrome
• Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
• Congenital myasthenic syndrome type 1a - See Congenital myasthenic syndrome with episodic apnea
• Congenital myasthenic syndrome with episodic apnea
• Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy - See Multisystemic smooth muscle dysfunction syndrome
• Congenital myopathy - See Myopathy congenital
• Congenital myopathy - cleft palate - malignant hyperthermia - See Native American myopathy
• Congenital myopathy cleft palate and malignant hyperthermia - See Native American myopathy
• Congenital myopathy with caps - See Cap myopathy
• Congenital myopathy-cleft palate-malignant hyperthermia syndrome - See Native American myopathy
• Congenital myotonic dystrophy
• Congenital myxovirus
• Congenital nephrotic syndrome 1 - See Congenital nephrotic syndrome Finnish type
• Congenital nephrotic syndrome Finnish type
• Congenital non-bullous ichthyosiform erythroderma - See Nonbullous congenital ichthyosiform erythroderma
• Congenital nonhemolytic jaundice
• Congenital nonprogressive myopathy with Moebius and Robin sequences - See Carey-Fineman-Ziter syndrome
• Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex - See Neuropathy, congenital, with arthrogryposis multiplex
• Congenital nonprogressive spinocerebellar ataxia - See Spinocerebellar ataxia 29
• Congenital nuclear cataract, autosomal recessive - See Autosomal recessive nonsyndromic congenital nuclear cataract
• Congenital oculofacial paralysis - See Moebius syndrome
• Congenital oculomotor apraxia - See Oculomotor apraxia Cogan type
• Congenital Ondine curse - See Congenital central hypoventilation syndrome
• Congenital optic atrophy and brachytelephalangy - See Berk-Tabatznik syndrome
• Congenital pachyonychia - See Pachyonychia congenita
• Congenital pancreatic agenesis - See Agenesis of the dorsal pancreas
• Congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease - See Yorifuji Okuno syndrome
• Congenital PAP - See Congenital pulmonary alveolar proteinosis
• Congenital partial atresia of the larynx - See Larynx, congenital partial atresia of
• Congenital patellar dislocation - See Congenital dislocation of the patella
• Congenital pernicious anemia due to defect of intrinsic factor - See Intrinsic factor deficiency
• Congenital polycystic dilatation of intrahepatic bile ducts - See Caroli disease
• Congenital polycythemia due to erythropoietin receptor mutation - See Primary familial and congenital polycythemia
• Congenital porphyria - See Congenital erythropoietic porphyria
• Congenital PRCA - See Diamond-Blackfan anemia
• Congenital primary aphakia
• Congenital primary lymphedema - See Milroy disease
• Congenital proconvertin deficiency - See Factor VII deficiency
• Congenital profound sensorineural deafness and oligodontia - See Deafness oligodontia syndrome
• Congenital prosopagnosia - See Developmental prosopagnosia
• Congenital pseudoarthrosis
• Congenital pulmonary airway malformation - See Cystic adenomatoid malformation of lung
• Congenital pulmonary alveolar proteinosis
• Congenital pulmonary artery branch stenosis
• Congenital pulmonary lymphangiectasia
• Congenital pure red cell aplasia - See Diamond-Blackfan anemia
• Congenital radioulnar synostosis
• Congenital retinal blindness - See Leber congenital amaurosis
• Congenital rod disease - See Nemaline myopathy
• Congenital rubella
• Congenital rubella syndrome - See Congenital rubella
• Congenital scalp defects associated with postaxial polydactyly - See Scalp defects postaxial polydactyly
• Congenital scalp defects with distal limb anomalies - See Adams-Oliver syndrome
• Congenital scalp defects with distal limb reduction anomalies - See Adams-Oliver syndrome
• Congenital short femur (subtype) - See Congenital femoral deficiency
• Congenital short pancreas - See Agenesis of the dorsal pancreas
• Congenital shortness of the costocoracoid ligament - See Costocoracoid ligament congenitally short
• Congenital sideroblastic anemia - See X-linked sideroblastic anemia
• Congenital spherocytic hemolytic anemia - See Hereditary spherocytosis
• Congenital spherocytosis - See Hereditary spherocytosis
• Congenital stationary night blindness with myopia - See X-linked congenital stationary night blindness
• Congenital stenosis of cervical medullary canal
• Congenital sternal cleft - See Sternal cleft
• Congenital sucrase-isomaltase deficiency
• Congenital sucrose isomaltose malabsorption
• Congenital sucrose-isomaltase malabsorption - See Congenital sucrase-isomaltase deficiency
• Congenital suprabulbar paresis - See Worster Drought syndrome
• Congenital Talipes Equinovarus - See Talipes equinovarus - not a rare disease
• Congenital Telangiectatic Erythema - See Bloom syndrome
• Congenital testicular deficiency - See Sohval Soffer syndrome
• Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay - See Thrombocytopenia Robin sequence
• Congenital thrombotic thrombocytopenic purpura
• Congenital torticollis
• Congenital toxoplasmosis - not a rare disease
• Congenital tracheal agenesis - See Tracheal agenesis
• Congenital tracheal stenosis
• Congenital tracheobronchomegaly - See Mounier-Kuhn syndrome
• Congenital tracheomalacia
• Congenital transposition of the penis - See Penoscrotal transposition
• Congenital trigger thumb (type) - See Trigger thumb
• Congenital ulnar drift - See Windblown hand
• Congenital unilateral pulmonary hypoplasia
• Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea - See Alopecia, epilepsy, pyorrhea, mental subnormality
• Congenital upward displacement of the scapula - See Sprengel deformity
• Congenital vagal hyperreflexivity
• Congenital varicella syndrome
• Congenital velopharyngeal incompetence - See Palatopharyngeal incompetence
• Congenital vertical talus
• Congenital vocal cord paralysis - See Congenital laryngeal palsy
• Congenital warfarin syndrome - See Warfarin syndrome
• Congenital Zika syndrome
• Congenitally corrected transposition of the great arteries
• Congenitally corrected transposition of the great vessels - See Congenitally corrected transposition of the great arteries
• Congenitally uncorrected transposition of the great vessels - See Ventriculoarterial discordance, isolated
• Congo red-negative amyloidosis-like glomerulopathy - See Fibrillary glomerulonephritis
• Conical teeth - See Hutchinson incisors
• Conjugate gaze palsy - See Supranuclear ocular palsy
• Conjugated Hyperbilirubinemia - See Dubin-Johnson syndrome
• Conjunctival melanoma
• Conjunctivitis lignosa - See Ligneous conjunctivitis
• Conjunctivitis with Pseudomembrane
• Conn syndrome - See Primary hyperaldosteronism - not a rare disease
• Connective tissue disorder Marden Walker type - See Marden-Walker syndrome
• Connective Tissue Sarcoma - See Soft tissue sarcoma
• Connexin 26 deafness - See DFNB1
• Conorenal syndrome - See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
• Conotruncal anomaly face syndrome - See 22q11.2 deletion syndrome
• Conotruncal cardiac defects - See Conotruncal heart malformations
• Conotruncal heart malformations
• Conrad Hunermann Happle syndrome - See X-linked dominant chondrodysplasia punctata 2
• Conradi Hunermann syndrome - See X-linked dominant chondrodysplasia punctata 2
• Constitutional megaloblastic anemia with severe neurologic disease - See Megaloblastic anemia due to dihydrofolate reductase deficiency
• Constrictive bronchiolitis - See Bronchiolitis obliterans organizing pneumonia
• Contiguous ABCD1 DXS1357E deletion syndrome - See Deafness, dystonia, and cerebral hypomyelination
• CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME - See Deafness, dystonia, and cerebral hypomyelination
• Continuous muscle fiber activity hereditary
• Continuous muscle fiber activity syndrome - See Isaacs' syndrome
• Continuous spikes and waves during sleep - See Continuous spike-wave during slow sleep syndrome
• Continuous spikes and waves during slow-wave sleep - See Continuous spike-wave during slow sleep syndrome
• Continuous spike-wave during slow sleep syndrome
• Contractural arachnodactyly - See Marfan syndrome
• Contractures ectodermal dysplasia cleft lip palate - See Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
• Contractures of feet, muscle atrophy, and oculomotor apraxia - See Intellectual disability-developmental delay-contractures syndrome
• Contractures, multiple with arachnodactyly - See Congenital contractural arachnodactyly
• Conversion disorder
• Convulsions benign familial neonatal - See Benign familial neonatal-infantile seizures
• Convulsions benign familial neonatal dominant form
• Convulsions, benign familial infantile, 1
• Convulsions, benign familial neonatal with Myokymia - See Myokymia with neonatal epilepsy
• Convulsions, infantile, with paroxysmal choreoathetosis, familial - See Infantile convulsions and paroxysmal choreoathetosis, familial
• Cooks syndrome - See Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
• Cooley's anemia - See Beta-thalassemia
• COP - See Cryptogenic organizing pneumonia
• CoPAN - See COASY Protein-Associated Neurodegeneration
• Copper deficiency, familial benign
• Copper transport disease - See Menkes disease
• Coproporphyria - See Hereditary coproporphyria
• Coproporphyria hereditary - See Hereditary coproporphyria
• Coproporphyrinogen oxidase deficiency - See Hereditary coproporphyria
• CoQ10 deficiency - See Coenzyme Q10 deficiency
• CoQ10 deficiency, primary - See Coenzyme Q10 deficiency
• CoQ-responsive OXPHOS deficiency
• Cor biloculare
• Cor triatriatum
• Cor triatriatum dexter
• Cor triatriatum dextrum - See Cor triatriatum dexter
• Cor triatriatum sinister
• Cor triatriatum sinistrum - See Cor triatriatum sinister
• CORD1 - See Cone-rod dystrophy 1
• CORD2 - See Cone-rod dystrophy 2
• CORD3 - See Cone-rod dystrophy 3
• CORD5 - See Cone-rod dystrophy 5
• CORDX1 - See Cone-rod dystrophy X-linked 1
• CORDX2 - See Cone-rod dystrophy X-linked 2
• CORDX3 - See Cone-rod dystrophy X-linked 3
• Cori disease - See Glycogen storage disease type 3
• Cormier Rustin Munnich syndrome
• Cornea guttata with anterior polar cataract
• Corneal amyloidosis - See Amyloidosis corneal
• Corneal anesthesia-deafness-intellectual disability syndrome - See Ramos Arroyo Clark syndrome
• Corneal cerebellar syndrome - See Spinocerebellar degeneration and corneal dystrophy
• Corneal clouding, cutis laxa and mental retardation - See De Barsy syndrome
• Corneal crystals myopathy and neuropathy - See Arnold Stickler Bourne syndrome
• Corneal crystals myopathy neuropathy
• Corneal dystrophy and perceptive deafness
• Corneal dystrophy and sensorineural deafness - See Corneal dystrophy and perceptive deafness
• Corneal dystrophy Avellino type
• Corneal dystrophy crystalline of Schnyder
• Corneal dystrophy epithelial and short stature - See Corneodermatoosseous syndrome
• Corneal dystrophy geographic - See Corneal dystrophy of Bowman layer type 1
• Corneal dystrophy granular type - See Groenouw type I corneal dystrophy
• Corneal dystrophy honeycomb shaped - See Corneal dystrophy Thiel Behnke type
• Corneal dystrophy ichthyosis microcephaly mental retardation
• Corneal dystrophy of Bowman layer type 1
• Corneal dystrophy of the Bowman layer type 2 - See Corneal dystrophy Thiel Behnke type
• Corneal dystrophy pigmentary anomaly malabsorption
• Corneal dystrophy punctate or nodular - See Groenouw type I corneal dystrophy
• Corneal dystrophy Reis Bucklers type - See Corneal dystrophy of Bowman layer type 1
• Corneal dystrophy Thiel Behnke type
• Corneal dystrophy with gum hypertrophy - See Rutherfurd syndrome
• Corneal dystrophy, anterior basement membrane - See Epithelial basement membrane corneal dystrophy
• Corneal dystrophy, congenital hereditary endothelial - See Corneal endothelial dystrophy type 2
• Corneal dystrophy, epithelial, with skin and skeletal changes - See Corneodermatoosseous syndrome
• Corneal dystrophy, gelatinous drop-like - See Amyloidosis corneal
• Corneal dystrophy, juvenile epithelial of Meesmann - See Meesmann corneal dystrophy
• Corneal dystrophy, lattice type 1 - See Lattice corneal dystrophy type 1
• Corneal dystrophy, Lattice type 3 - See Amyloidosis corneal
• Corneal dystrophy, macular type - See Macular dystrophy, corneal type 1
• Corneal endothelial dystrophy type 2
• Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility - See Brittle cornea syndrome
• Corneal hypesthesia, familial
• Corneal neuralgia - See Corneal neuropathic disease
• Corneal neuropathic disease
• Corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation - See Mietens-Weber syndrome
• Cornelia de Lange syndrome
• Corneodermatoosseous syndrome
• Coronal dentin dysplasia - See Dentin dysplasia, coronal
• Coronal synostosis, syndactyly and jejunal atresia
• Coronaro-cardiac fistula
• Coronary arteries congenital malformation
• Coronary artery aneurysm
• Coronary artery vasospasm - See Prinzmetal's variant angina
• Coronary sinus atrial septal defects - See Atrial septal defect coronary sinus
• Corpus callosum agenesis
• Corpus callosum agenesis - double urinary collecting system - See Corpus callosum agenesis double urinary collecting
• Corpus callosum agenesis double urinary collecting
• Corpus callosum agenesis facial anomalies Robin sequence - See Toriello-Carey syndrome
• Corpus callosum agenesis neuronopathy - See Andermann syndrome
• Corpus callosum agenesis of blepharophimosis Robin type
• Corpus callosum agenesis polysyndactyly - See Curry Jones syndrome
• Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome - See Toriello-Carey syndrome
• Corpus callosum agenesis-double urinary collecting system syndrome - See Corpus callosum agenesis double urinary collecting
• Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - See Graham-Cox syndrome
• Corpus callosum dysgenesis cleft spasm
• Corpus callosum dysgenesis hypopituitarism
• Corpus callosum dysgenesis X-linked recessive
• Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation - See Microcephaly, corpus callosum dysgenesis and cleft lip-palate
• Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome - See L1 syndrome
• Corpus callosum, agenesis of, with abnormal genitalia - See Proud syndrome
• Corpus callosum, agenesis of, with chorioretinal abnormality - See Aicardi syndrome
• Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia - See Graham-Cox syndrome
• Corrected transposition - See Double discordia
• CORS - See Joubert syndrome with oculorenal anomalies
• CORS1 - See Joubert syndrome
• CORS2 - See Joubert syndrome 2
• Cortada Koussef Matsumoto syndrome
• Cortes Lacassie syndrome
• Cortical blindness-intellectual disability-polydactyly syndrome
• Cortical defects wormian bones and dentinogenesis imperfecta
• Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• Cortical dysplasia of Taylor - See Focal cortical dysplasia of Taylor
• Cortical dysplasia, complex, with other brain malformations 1 - See Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
• Cortical hyperostosis with hyperphosphatemia - See Hyperostosis-hyperphosphatemia syndrome
• Cortical hyperostosis with syndactyly - See Sclerosteosis
• Cortical-Basal Ganglionic degeneration - See Corticobasal degeneration
• Corticobasal degeneration
• Cortico-Basal Ganglionic Degeneration (CBGD) - See Corticobasal degeneration
• Corticobasal syndrome - See Corticobasal degeneration
• Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin - See Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
• Corticosteroid-binding globulin deficiency
• Corticosteroid-sensitive aseptic abscesses
• Corticosterone methyloxidase type 1 deficiency - See 18 Hydroxylase deficiency
• Corticotroph pituitary adenoma - See ACTH-secreting pituitary adenoma
• Corticotropin-independent macronodular adrenal hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
• Cortisol 11-beta-ketoreductase deficiency - See Apparent mineralocorticoid excess
• CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT - See Glucocorticoid resistance
• Cortisone reductase deficiency
• Costeff optic atrophy syndrome - See OPA3 defect
• Costeff syndrome - See OPA3 defect
• Costello syndrome
• Costochondral junction syndrome - See Tietze syndrome
• Costocoracoid ligament congenitally short
• Costovertebral dysplasia - See Spondylocostal dysostosis
• Costovertebral segmentation anomalies - See Spondylocostal dysostosis
• Costovertebral segmentation defect with mesomelia (formerly) - See Robinow syndrome
• Cote Katsantoni syndrome
• Cough headache
• Coumadin sensitivity - See Warfarin sensitivity
• Coumarin embryopathy - See Warfarin syndrome
• Coumarin syndrome - See Warfarin syndrome
• Cousin syndrome
• Covesdem syndrome (formerly) - See Robinow syndrome
• Cowchock syndrome - See Charcot-Marie-Tooth disease
• Cowden disease - See Cowden syndrome
• Cowden syndrome
• Cowden's disease - See Cowden syndrome
• COX deficiency - See Cytochrome c oxidase deficiency
• Cox deficiency, French Canadian type - See Leigh syndrome, French Canadian type
• Cox deficiency, Saguenay Lac saint Jean type - See Leigh syndrome, French Canadian type
• COX1 DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
• Coxa plana - See Legg-Calve-Perthes disease
• Coxa vara, congenital
• Coxiella Burnetii fever - See Q fever
• Coxoauricular syndrome
• Coxo-podo-patellar syndrome - See Small patella syndrome
• COXPD12 - See Leukoencephalopathy with thalamus and brainstem involvement and high lactate
• COXPD16 - See Combined oxidative phosphorylation deficiency 16
• CPA - See Congenital primary aphakia
• CPD3 - See Cerebelloparenchymal disorder 3
• CPD4 - See Joubert syndrome
• CPDIII - See Cerebelloparenchymal disorder 3
• CPEO - See Chronic progressive external ophthalmoplegia
• CPEO with myopathy - See Kearns-Sayre syndrome
• CPEO with ragged red fibers - See Kearns-Sayre syndrome
• CPHD1 - See Pituitary hormone deficiency, combined 1
• CPHD3 - See Pituitary hormone deficiency, combined 3
• CPHD4 - See Pituitary hormone deficiency, combined 4
• CPL - See Congenital pulmonary lymphangiectasia
• CPM - See Central pontine myelinolysis - not a rare disease
• CPO deficiency - See Hereditary coproporphyria
• CPP4 - See Cataract, posterior polar, 4
• CPPDD - See Chondrocalcinosis 2
• CPRO deficiency - See Hereditary coproporphyria
• CPS 1 deficiency - See Carbamoyl phosphate synthetase 1 deficiency
• CPSQ4 (formerly) - See Spastic paraplegia 51
• CPT1A deficiency - See Carnitine palmitoyl transferase 1A deficiency
• CPT2 - See Carnitine palmitoyltransferase 2 deficiency
• CPVT - See Catecholaminergic polymorphic ventricular tachycardia
• CPX - See Cleft palate X-linked
• CPX deficiency - See Hereditary coproporphyria
• CPXD - See X-linked dominant chondrodysplasia punctata 2
• CPXR - See Chondrodysplasia punctata 1, X-linked recessive
• Cramer Niederdellmann syndrome - See Cerebral gigantism jaw cysts
• Cramp-fasciculation syndrome
• Crandall syndrome
• Crane-Heise syndrome
• Cranial arteritis - See Giant cell arteritis
• Cranial mononeuropathy VI - See Sixth nerve palsy
• Cranial nerve VI palsy - See Sixth nerve palsy
• Cranial variant of GBS - See Miller-Fisher syndrome
• Cranial variant of Guillain-Barré syndrome - See Miller-Fisher syndrome
• Cranio osteoarthropathy
• Craniocarpotarsal dysplasia - See Freeman Sheldon syndrome
• Craniocarpotarsal dystrophy - See Freeman Sheldon syndrome
• Craniocele - See Encephalocele
• Craniocerebellocardiac dysplasia - See Dandy-Walker like malformation with atrioventricular septal defect
• Cranio-cerebello-cardiac dysplasia - See Dandy-Walker like malformation with atrioventricular septal defect
• Craniodiaphyseal dysplasia
• Craniodiaphyseal dysplasia, dominant - See Schaefer Stein Oshman syndrome
• Craniodigital syndrome with mental retardation - See Scott Bryant Graham syndrome
• Craniodigital syndrome-intellectual disability syndrome - See Scott Bryant Graham syndrome
• Craniodigital syndrome-mental retardation, Scott type - See Scott Bryant Graham syndrome
• Craniodigital-intellectual disability syndrome - See Scott Bryant Graham syndrome
• Cranioectodermal dysplasia
• Craniofacial and osseous defects mental retardation - See Grix Blankenship Peterson syndrome
• Craniofacial and skeletal defects
• Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage - See Teebi Shaltout syndrome
• Craniofacial deafness hand syndrome
• Craniofacial digital genital anomalies - See Harrod Doman Keele syndrome
• Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation - See Temtamy syndrome
• Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature - See Cousin syndrome
• Craniofacial dysostosis arthrogryposis progeroid appearence
• Craniofacial dysostosis type 1 - See Crouzon syndrome
• Craniofacial dysostosis with diaphyseal hyperplasia
• Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies - See Gorlin Chaudhry Moss syndrome
• Craniofacial dyssynostosis
• Craniofacial dyssynostosis and short stature - See Craniofacial dyssynostosis
• Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development - See Curry Jones syndrome
• Craniofacial microsomia
• Craniofacial-skeletal-dermatologic dysplasia - See Pfeiffer syndrome
• Craniofacial-skeletal-dermatologic syndrome - See Pfeiffer syndrome
• Craniofacial-ulnar-renal syndrome - See 3MC syndrome
• Craniofaciocardioskeletal syndrome - See Cantu syndrome
• Craniofrontonasal dysostosis - See Craniofrontonasal dysplasia
• Craniofrontonasal dysplasia
• Craniofrontonasal dysplasia with alopecia and hypogonadism - See Frontonasal dysplasia
• Craniofrontonasal dysplasia, Teebi type - See Brachycephalofrontonasal dysplasia
• Craniofrontonasal syndrome - See Craniofrontonasal dysplasia
• Craniofrontonasal syndrome Teebi type
• Craniometaphyseal dysplasia Jackson type - See Craniometaphyseal dysplasia, autosomal dominant
• Craniometaphyseal dysplasia, autosomal dominant
• Craniometaphyseal dysplasia, autosomal recessive type
• Craniomicromelic syndrome
• Cranio-oro-digital syndrome - See Oto-palato-digital syndrome type 2
• Craniopharyngeal duct tumor - See Craniopharyngioma
• Craniopharyngioma
• Craniorachischisis
• Craniostenosis - See Craniosynostosis
• Craniostenosis cataract
• Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis - See Pfeiffer-type cardiocranial syndrome
• Craniosynostosis
• Craniosynostosis alopecia brain defect
• Craniosynostosis and clavicular hypoplasia, Delayed closure of the fontanel, Anal anomalies and Genitourinary malformations - See Craniosynostosis, anal anomalies, and porokeratosis
• Craniosynostosis arthrogryposis cleft palate
• Craniosynostosis autosomal dominant
• Craniosynostosis Boston type - See Warman Mulliken Hayward syndrome
• Craniosynostosis cleft lip palate arthrogryposis
• Craniosynostosis contractures cleft
• Craniosynostosis exostoses nevus epibulbar dermoid
• Craniosynostosis Fontaine type
• Craniosynostosis Maroteaux Fonfria type
• Craniosynostosis mental retardation clefting syndrome
• Craniosynostosis Philadelphia type
• Craniosynostosis synostoses hypertensive nephropathy - See Allain-Babin-Demarquez syndrome
• Craniosynostosis Warman type - See Warman Mulliken Hayward syndrome
• Craniosynostosis with arachnodactyly and abdominal hernias - See Shprintzen-Goldberg craniosynostosis syndrome
• Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features - See Iida Kannari syndrome
• Craniosynostosis with radial defects - See Baller-Gerold syndrome
• Craniosynostosis, anal anomalies, and porokeratosis
• Craniosynostosis, lambdoidal - See Lambdoid synostosis
• Craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects - See Calabro syndrome
• Craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature - See Hunter-McAlpine syndrome
• Craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose - See Baraitser Rodeck Garner syndrome
• Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia - See Samson Gardner syndrome
• Craniosynostosis, midfacial hypoplasia, and foot abnormalities - See Jackson-Weiss syndrome
• Craniosynostosis-alopecia-brain defect syndrome - See Gomez Lopez Hernandez syndrome
• Craniosynostosis-congenital heart disease-intellectual disability syndrome - See Pfeiffer-type cardiocranial syndrome
• Craniosynostosis-craniofacial dysostosis syndrome - See Craniofacial dyssynostosis
• Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - See Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Craniosynostosis-intellectual disability syndrome of Lin and Gettig - See Lin-Gettig syndrome
• Craniosynostosis-radial aplasia syndrome - See Baller-Gerold syndrome
• Craniotelencephalic dysplasia
• Cranium bifidum - See Encephalocele
• CRAPB - See Progressive bifocal chorioretinal atrophy
• Crash syndrome - See Spastic paraplegia 1
• CRASH syndrome - See L1 syndrome
• Crawfurd syndrome
• CRB - See Leber congenital amaurosis
• CRBM - See Cherubism
• CRCC - See Chromophobe renal cell carcinoma
• CRD2 - See Cone-rod dystrophy 2
• Creatine deficiency syndrome due to AGAT deficiency - See L-arginine:glycine amidinotransferase deficiency
• Creatine deficiency, X-linked - See X-linked creatine deficiency
• CREE ENCEPHALITIS - See Aicardi-Goutieres syndrome
• Cree leukoencehalopathy - See Leukoencephalopathy with vanishing white matter
• Creeping eruption - See Cutaneous larva migrans
• Creeping myiasis
• CREST syndrome
• Cretinism athyreotic
• Creutzfeldt Jacob disease - See Creutzfeldt-Jakob disease
• Creutzfeldt Jakob disease - See Creutzfeldt-Jakob disease
• Creutzfeldt-Jacob disease - See Creutzfeldt-Jakob disease
• Creutzfeldt-Jakob disease
• Cri du chat syndrome
• Cribriform carcinoma - See Adenoid cystic carcinoma
• Crigler Najjar syndrome type 2 - See Crigler-Najjar syndrome type 2
• Crigler Najjar syndrome, type 1
• Crigler-Najjar syndrome type 2
• Crigler-Najjar syndrome, type I - See Crigler Najjar syndrome, type 1
• Crigler-Najjar syndrome, type II - See Crigler-Najjar syndrome type 2
• Crisponi syndrome - See Cold-induced sweating syndrome
• Criswick-Schepens syndrome - See Familial exudative vitreoretinopathy
• CRMO - See Chronic recurrent multifocal osteomyelitis
• Crohn's disease - not a rare disease
• Crohn's disease of the esophagus
• Crohn's disease, pediatric - See Pediatric Crohn's disease
• Crome syndrome
• Cronkhite-Canada disease
• Crooked little finger, familial - See Familial streblodactyly
• Cross syndrome - See Oculocerebral syndrome with hypopigmentation
• Crossed polydactyly type 1
• Crossed polysyndactyly
• Cross-McKusick syndrome - See Troyer syndrome
• Crosti-gianotti syndrome - See Gianotti Crosti syndrome
• Crosti's Disease - See Primary cutaneous follicle center lymphoma
• Crouzon craniofacial dysostosis - See Crouzon syndrome
• Crouzon disease - See Crouzon syndrome
• Crouzon syndrome
• Crow-Fukase syndrome - See POEMS syndrome
• CRPS - See Complex regional pain syndrome
• CRPT1 - See Carpenter syndrome
• CRS - See Congenital rubella
• Crumpled helices and small mouth
• Crusted scabies
• CRV - See Retinal vasculopathy with cerebral leukodystrophy
• Cryofibrinogenemia
• Cryoglobulinemia
• Cryohydrocytosis - See Pseudohyperkalemia Cardiff
• Cryopyrin-associated periodic syndrome
• Cryopyrinopathy - See Cryopyrin-associated periodic syndrome
• Cryptococcosis
• Cryptogenic organizing pneumonia
• Cryptomicrotia brachydactyly syndrome
• Cryptomicrotia brachydactyly syndrome excess fingertip arch - See Cryptomicrotia brachydactyly syndrome
• Cryptophthalmos
• Cryptophthalmos syndrome - See Fraser syndrome
• Cryptophthalmos with other malformations - See Fraser syndrome
• Cryptophthalmos-syndactyly syndrome - See Fraser syndrome
• Cryptorchidism arachnodactyly intellectual deficit - See Van Benthem-Driessen-Hanveld syndrome
• Cryptorchidism-arachnodactyly-intellectual disability syndrome - See Van Benthem-Driessen-Hanveld syndrome
• Cryptosporidiosis
• Crystal arthropathies - not a rare disease
• CS - See Cowden syndrome
• CSF leak - See Cerebrospinal fluid leak
• CSF otorrhea - See Cerebrospinal fluid leak
• CSF rhinorrhea - See Cerebrospinal fluid leak
• CSID - See Congenital sucrase-isomaltase deficiency
• CSNU - See Cystinuria
• CSO - See Craniosynostosis
• CSS - See Eosinophilic granulomatosis with polyangiitis
• CSWS - See Continuous spike-wave during slow sleep syndrome
• CSWSS syndrome - See Continuous spike-wave during slow sleep syndrome
• CTCL - See Cutaneous T-cell lymphoma
• CTEPH - See Chronic thromboembolic pulmonary hypertension
• CTEV - See Talipes equinovarus - not a rare disease
• CTHM - See Conotruncal heart malformations
• CTLA4 Haploinsufficiency with autoimmune infiltration - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• CTLA-4 haploinsufficiency with autoimmune infiltration disease - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• CTLN2 - See Adult-onset citrullinemia type II
• CTNL1 - See Citrullinemia type I
• CTNNB1 syndrome - See Severe intellectual disability-progressive spastic diplegia syndrome
• CTNNB1-related intellectual disability - See Severe intellectual disability-progressive spastic diplegia syndrome
• CTNS - See Nephropathic cystinosis
• CTPA - See Cataract, posterior polar, 1
• CTPP - See Cataract, posterior polar, 1
• CTPP1 - See Cataract, posterior polar, 1
• CTPP3 - See Cataract, posterior polar, 3
• CTPP4 - See Cataract, posterior polar, 4
• CTPP5 - See Cataract, posterior polar, 5
• CTX - See Cerebrotendinous xanthomatosis
• CUL4B-related X-linked intellectual disability - See Cabezas syndrome
• Culler-Jones syndrome
• Cumming syndrome - See Campomelia Cumming type
• Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly - See Metaphyseal acroscyphodysplasia
• Cupped metaphyses and cone-shaped epiphyses with alopecia - See Trichoscyphodysplasia
• Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly - See Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
• Curatolo Cilio Pessagno syndrome - See White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
• Curatolo-Cilio-Pessagno syndrome - See White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
• Curly hair-acral keratoderma-caries syndrome
• Curran syndrome - See Acrorenal syndrome recessive
• Currarino syndrome - See Currarino triad
• Currarino triad
• Curry Hall syndrome - See Weyers acrofacial dysostosis
• Curry Jones syndrome
• Curth-Macklin type ichthyosis hystrix - See Ichthyosis hystrix, Curth Macklin type
• Cushing disease - See ACTH-secreting pituitary adenoma
• Cushing syndrome - See Cushing's syndrome
• Cushing's Disease - See ACTH-secreting pituitary adenoma
• Cushing's symphalangism - See Proximal symphalangism
• Cushing's syndrome
• Cutaneomeningospinal angiomatosis - See Cobb syndrome
• Cutaneous anthrax
• Cutaneous collagenous vasculopathy
• cutaneous fibrous histiocytoma - See Dermatofibroma - not a rare disease
• Cutaneous follicle center lymphoma - See Primary cutaneous follicle center lymphoma
• Cutaneous follicle centre lymphoma - See Primary cutaneous follicle center lymphoma
• Cutaneous larva migrans
• Cutaneous leishmaniasis (subtype) - See Leishmaniasis
• Cutaneous leukocytoclastic angiitis - See Hypersensitivity vasculitis
• Cutaneous leukocytoclastic vasculitis - See Hypersensitivity vasculitis
• Cutaneous local mastocytoma - See Cutaneous mastocytoma
• Cutaneous lupus erythematosus
• Cutaneous lymphangioma circumscriptum - See Microcystic lymphatic malformation
• Cutaneous mastocytoma
• Cutaneous mastocytosis
• Cutaneous neuroendocrine carcinoma - See Merkel cell carcinoma
• Cutaneous photosensitivity and colitis, lethal
• Cutaneous polyarteritis nodosa
• Cutaneous sclerosis
• Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas - See Muir-Torre syndrome
• Cutaneous small vessel vasculitis - See Hypersensitivity vasculitis
• Cutaneous T-cell lymphoma
• Cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms - See BAP1 tumor predisposition syndrome
• Cutaneous-skeletal hypophosphatemia syndrome
• cutaneovisceral angiomatosis with thrombocytopenia - See Multifocal lymphangioendotheliomatosis with thrombocytopenia
• Cutaneovisceral angiomatosis-thrombocytopenia syndrome - See Multifocal lymphangioendotheliomatosis with thrombocytopenia
• Cutis gyrata - acanthosis nigricans - craniosynostosis - See Beare-Stevenson cutis gyrata syndrome
• Cutis Gyrata syndrome of Beare and Stevenson - See Beare-Stevenson cutis gyrata syndrome
• Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - See Beare-Stevenson cutis gyrata syndrome
• Cutis gyratum acanthosis nigricans craniosynostosis
• Cutis hyperelastica - See Kyphoscoliotic Ehlers-Danlos syndrome
• Cutis laxa
• Cutis laxa growth deficiency syndrome - See De Barsy syndrome
• Cutis laxa osteoporosis
• Cutis laxa with bone dystrophy - See Cutis laxa, autosomal recessive type 2A
• Cutis laxa with growth and developmental delay - See Cutis laxa, autosomal recessive type 2A
• Cutis laxa with joint laxity and retarded development - See Cutis laxa, autosomal recessive type 2A
• Cutis laxa with progeroid features - See Cutis laxa, autosomal recessive type 2B
• Cutis laxa X-linked - See Occipital horn syndrome
• Cutis laxa, autosomal dominant
• Cutis laxa, autosomal recessive - See Cutis laxa, autosomal recessive type 1
• Cutis laxa, autosomal recessive type 1
• Cutis laxa, autosomal recessive type 2A
• Cutis laxa, autosomal recessive type 2B
• Cutis laxa, Debre type - See Cutis laxa, autosomal recessive type 2A
• Cutis laxa, type 1 - See Cutis laxa, autosomal recessive type 1
• Cutis marmorata telangiectatica congenita
• Cutis verticis gyrata
• Cutis verticis gyrata mental deficiency
• Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome - See Akesson syndrome
• Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome - See Akesson syndrome
• Cutler Bass Romshe syndrome
• CVD1 - See Cardiac valvular dysplasia, X-linked
• cvEDS - See Cardiac-Valvular Ehlers-Danlos syndrome
• CVID - See Common variable immunodeficiency
• CVS - See Cyclic vomiting syndrome - not a rare disease
• CVT - See Congenital vertical talus
• CX - See Xanthogranulomatous cholecystitis
• Cyclic hematopoiesis - See Cyclic neutropenia
• Cyclic neutropenia
• Cyclic thrombocytopenia
• Cyclic vomiting syndrome - not a rare disease
• Cyclical edema - See Idiopathic edema - not a rare disease
• CYCLOOXYGENASE 1 DEFICIENCY - See PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY
• Cyclopism - See Fraser syndrome
• Cyclospora infection - See Cyclosporiasis
• Cyclosporiasis
• Cyclosporosis - See Cyclosporiasis
• CYLD - See Familial cylindromatosis
• Cylindrical spirals myopathy
• Cylindroma - See Adenoid cystic carcinoma
• Cylindroma
• Cylindromatosis, familial - See Familial cylindromatosis
• Cyllosomas - See Limb-body wall complex
• CYP11B1 deficiency - See 11-beta-hydroxylase deficiency
• CYP21 deficiency - See 21-hydroxylase deficiency
• CYP2C19-related poor drug metabolism - not a rare disease
• CYP2D6 - See Cytochrome p450 2D6 variant - not a rare disease
• Cyprus facial neuromusculoskeletal syndrome
• Cyprus fever - See Brucellosis
• Cystadenocarcinoma - See Adenocarcinoma of the appendix
• Cystathionine beta-synthase deficiency - See Homocystinuria due to CBS deficiency
• Cystathioninuria - See Gamma-cystathionase deficiency
• Cystic adenomatoid malformation of lung
• Cystic adventitial disease
• Cystic angiomatosis - See Skeletal-extraskeletal angiomatosis
• Cystic angiomatosis of bone diffuse - See Gorham's disease
• Cystic dilatation of renal collecting tubes - See Medullary sponge kidney
• Cystic dilatation of the intrahepatic biliary tree - See Caroli disease
• Cystic endosalpingiosis of the uterus - See Florid cystic endosalpingiosis of the uterus
• Cystic fibrosis
• Cystic fibrosis gastritis megaloblastic anemia - See Lubani Al Saleh Teebi syndrome
• Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies - See Lubani Al Saleh Teebi syndrome
• Cystic hamartoma of lung and kidney - See Graham Boyle Troxell syndrome
• Cystic hygroma
• Cystic hygroma fetal - See Fetal cystic hygroma
• Cystic hygroma of the neck (posterior) - See Hygroma cervical
• Cystic leukoencephalopathy without megalencephaly - See RNAse T2-deficient leukoencephalopathy
• Cystic lymphangioma - See Cystic hygroma
• Cystic medial necrosis of aorta
• Cysticercosis
• Cystic-multilocular variant - See Clear cell renal cell carcinoma
• Cystine diathesis - See Cystinosis
• Cystine disease - See Cystinosis
• Cystine storage disease - See Cystinosis
• Cystinoses - See Cystinosis
• Cystinosin, defect of - See Nephropathic cystinosis
• Cystinosis
• Cystinosis, adult, nonnephropathic - See Cystinosis, ocular nonnephropathic
• Cystinosis, benign, nonnephropathic - See Cystinosis, ocular nonnephropathic
• Cystinosis, ocular nonnephropathic
• Cystinuria
• Cystinuria-lysinuria - See Cystinuria
• Cystoisosporiasis
• Cystosarcoma phyllodes - See Phyllodes tumor of the breast
• Cystosarcoma phyllodes of the breast - See Phyllodes tumor of the breast
• Cytochrome c oxidase deficiency
• Cytochrome c oxidase deficiency, French Canadian type - See Leigh syndrome, French Canadian type
• Cytochrome p450 (2D6) - See Cytochrome p450 2D6 variant - not a rare disease
• Cytochrome p450 2D6 variant - not a rare disease
• Cytokine deficiency
• Cytokine receptor deficiency
• Cytomegalic inclusion body disease - See Cytomegalic inclusion disease
• Cytomegalic inclusion disease
• Cytomegalovirus retinitis
• Cytoplasmic body myopathy
• Czech dysplasia metatarsal type
• Czeizel Brooser syndrome - See Polydactyly myopia syndrome
• Czeizel syndrome - See Omphalocele cleft palate syndrome lethal
• Czeizel-Losonci syndrome - See Split hand urinary anomalies spina bifida