Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program C/4

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





C/4



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• CMT4J - See Charcot-Marie-Tooth disease
• CMT6X - See Charcot-Marie-Tooth disease
• CMTC - See Cutis marmorata telangiectatica congenita
• CMTDI - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CMTDIA - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CMTDIB - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CMTDIC - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CMTDID - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CMTDIE - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CMTDIF - See Autosomal dominant intermediate Charcot-Marie-Tooth
• CMTRIA - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• CMTRIB - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
• CMTX - See X-linked Charcot-Marie-Tooth disease
• CMTX - See Charcot-Marie-Tooth disease
• CMTX 1 - See Charcot-Marie-Tooth disease
• CMTX 2 - See Charcot-Marie-Tooth disease
• CMTX 3 - See Charcot-Marie-Tooth disease
• CMTX 4 - See Charcot-Marie-Tooth disease
• CMTX5 - See Charcot-Marie-Tooth disease
• CMTX6 - See Charcot-Marie-Tooth disease
• CMV antenatal infection
• CNC1 - See Carney complex
• CND - See Dermoids of cornea
• CNF - See Congenital nephrotic syndrome Finnish type
• CNL - See Chronic neutrophilic leukemia
• CNO/CRMO - See Chronic recurrent multifocal osteomyelitis
• CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr - See Neuroaxonal dystrophy renal tubular acidosis
• CNS tumors with Familial polyposis of the colon - See Turcot syndrome
• CNTF receptor-related disorders - See Cold-induced sweating syndrome
• COA Syndrome - See Wildervanck syndrome
• COACH syndrome
• Coagulation factor 12 deficiency - See Factor XII deficiency
• Coal worker's pneumoconiosis
• Coarctation of the aorta - See Aortic coarctation
• Coarse face hypotonia constipation
• Coarse, dry, lusterless hair which breaks off easily - See Pili torti
• COASY Protein-Associated Neurodegeneration
• Coats disease
• Cobalamin C disease - See Methylmalonic acidemia with homocystinuria type cblC
• Cobalamin D defect - See Methylmalonic acidemia with homocystinuria type cblD
• Cobalamin J defect - See Methylmalonic acidemia with homocystinuria type cblJ
• Cobalamin pseudodeficiency due to transcobalamin deficiency - See Transcobalamin 1 deficiency
• Cobalamin r binder protein deficiency - See Transcobalamin 1 deficiency
• Cobb syndrome
• COCA1 - See Lynch syndrome - not a rare disease
• Cocaine antenatal exposure
• Cocaine fetopathy - See Cocaine antenatal exposure
• Coccidioides immitis infection - See Coccidioidomycosis
• Coccidioidomycosis
• Coccidiosis - See Coccidioidomycosis
• Coccydynia - See Coccygodynia
• Coccygodynia
• Cochin Jewish disorder - See Haim-Munk syndrome
• Cochleosaccular degeneration of the inner ear and progressive cataracts
• Cockayne syndrome
• Cockayne syndrome type 2 - See Cockayne syndrome type II
• Cockayne syndrome type I
• Cockayne syndrome classic form - See Cockayne syndrome type I
• Cockayne syndrome classical - See Cockayne syndrome type I
• Cockayne syndrome type 2 - See Cockayne syndrome type II
• Cockayne syndrome type 3 - See Cockayne syndrome type III
• Cockayne syndrome type A - See Cockayne syndrome type I
• Cockayne syndrome type B - See Cockayne syndrome type II
• Cockayne syndrome type C - See Cockayne syndrome type III
• Cockayne syndrome type II
• Cockayne syndrome type III
• Cockayne's syndrome - See Cockayne syndrome
• Cockett syndrome - See May-Thurner syndrome
• COD1 - See Cone-rod dystrophy X-linked 1
• COD2 - See Cone-rod dystrophy X-linked 2
• CODAS syndrome
• COD-MD syndrome - See Walker-Warburg syndrome
• Coeliac disease - See Celiac disease - not a rare disease
• Coenzyme Q cytochrome c reductase deficiency of
• Coenzyme Q10 deficiency
• Coffin syndrome - See Coffin-Lowry syndrome
• Coffin syndrome 1
• Coffin-Lowry syndrome
• Coffin-Siris syndrome
• COFS syndrome - See Cerebro-oculo-facio-skeletal syndrome
• COG1-CDG - See COG1-CDG (CDG-IIg)
• COG1-CDG (CDG-IIg)
• COG4-CDG - See COG4-CDG (CDG-IIj)
• COG4-CDG (CDG-IIj)
• COG5-CDG - See COG5-CDG (CDG-IIi)
• COG5-CDG (CDG-IIi)
• COG5-CDG (CDG-Iii). - See COG5-CDG (CDG-IIi)
• COG6-CDG (CDG-IIL)
• COG7-CDG (CDG-IIe)
• COG8-CDG - See COG8-CDG (CDG-IIh)
• COG8-CDG (CDG-IIh)
• 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 - SeeUveal 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, childhood
• 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 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 - See Leiner disease
• 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 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 - SeeThickened 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 - SeeHamanishi 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 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 exfoliative erythroderma resistant to treatment - See Erythroderma lethal congenital
• 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
• 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 - SeeCardiofaciocutaneous syndrome
• Congenital heart defects, hamartomas of tongue, and polysyndactyly - See Orstavik Lindemann Solberg 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 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
• 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 ichthyosis, microcephalus, quadriplegia
• Congenital idiopathic intestinal pseudoobstruction - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• Congenital IGHD - See Isolated growth hormone deficiency
• Congenital IGHD - See Isolated growth hormone deficiency type 1A
• 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
• Congenital isolated growth hormone deficiency - See Isolated growth hormone deficiency type 1A
• 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 - SeeCLOVES 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 ptosis and posterior fusion of lumbosacral vertebrae - See Vertebral fusion posterior lumbosacral blepharoptosis
• Congenital pulmonary airway malformation - See Cystic adenomatoid malformation of lung
• Congenital pulmonary alveolar proteinosis
• 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
• 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
• 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
• CPT I, MUSCLE - See Carnitine palmitoyltransferase I deficiency , muscle
• CPT1A deficiency - See Carnitine palmitoyl transferase 1 deficiency
• CPT1A deficiency - See Carnitine palmitoyltransferase I deficiency , muscle
• 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 Cardiocranial syndrome
• Craniosynostosis
• Craniosynostosis - dysmorphism - brachydactyly - See Glass-Chapman-Hockley syndrome
• 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 brachydactyly - See Glass-Chapman-Hockley 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 mental retardation heart defects
• Craniosynostosis Philadelphia type
• Craniosynostosis radial aplasia type Imaizumi - See Imaizumi Kuroki syndrome
• 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 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-dysmorphism-brachydactyly syndrome - See Glass-Chapman-Hockley syndrome
• 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 - See Neonatal hypothyroidism
• 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-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 syndrome, familial
• 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 - SeeMuir-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
• 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 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 - SeeLubani 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 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
• 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