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

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



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.

C 3/4

• CHIME syndrome - See Zunich neuroectodermal syndrome
• Chitayat Meunier Hodgkinson syndrome
• Chitayat-Hall syndrome - See Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
• Chitty Hall Webb syndrome
• Chitty-Hall-Baraitser syndrome - See Deafness, epiphyseal dysplasia, short stature
• CHL - See Hypertrichosis lanuginosa congenita
• Chlamydia psittaci - See Psittacosis
• Chlamydial pneumonia - See Psittacosis
• Chloride shunt syndrome - See Pseudohypoaldosteronism type 2
• Chloridorrhea, congenital - See Congenital chloride diarrhea
• Chloroma - See Myeloid sarcoma
• CHLS - See Aagenaes syndrome
• CHM - See Choroideremia
• CHN - See Charcot-Marie-Tooth disease
• Choanal atresia deafness cardiac defects dysmorphism - See Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
• Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
• Choked disk - See Papilledema
• Cholangitis, primary sclerosing - See Primary sclerosing cholangitis
• Cholecystitis
• Choledochal cyst - See Bile duct cysts
• Choledochocele - See Bile duct cysts
• Cholemia, familial - See Gilbert syndrome - not a rare disease
• Cholera
• Cholestasis lymphedema syndrome - See Aagenaes syndrome
• Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency - See Congenital bile acid synthesis defect, type 2
• Cholestasis with peripheral pulmonary stenosis - See Alagille syndrome
• Cholestasis, benign recurrent intrahepatic 1 - See Benign recurrent intrahepatic cholestasis 1
• Cholestasis, benign recurrent intrahepatic 2 - See Benign recurrent intrahepatic cholestasis 2
• Cholestasis, fatal intrahepatic - See Progressive familial intrahepatic cholestasis 1
• Cholestasis, intrahepatic of pregnancy - See Intrahepatic cholestasis of pregnancy
• Cholestasis, intrahepatic, with defective conversion of - See Bile acid synthesis defect, congenital, 4
• Cholestasis, progressive familial intrahepatic 4
• Cholestasis-pigmentary retinopathy-cleft palate syndrome - See Hardikar syndrome
• Cholesteatoma
• Cholesterol ester hydrolase deficiency - See Cholesteryl ester storage disease
• Cholesterol ester storage disease - See Cholesteryl ester storage disease
• Cholesterol pneumonia
• Cholesterol thesaurismosis - See Tangier disease
• Cholesteryl ester storage disease
• Cholinesterase 2 Deficiency - See Pseudocholinesterase deficiency
• Chondroblastoma
• Chondrocalcinosis 1
• Chondrocalcinosis 2
• Chondrocalcinosis due to apatite crystal deposition
• Chondrocalcinosis familial articular - See Chondrocalcinosis 2
• Chondrocalcinosis with early-onset osteoarthritis - See Chondrocalcinosis 1
• Chondrodysplasia acromesomelic with genital anomalies
• Chondrodysplasia Blomstrand type
• Chondrodysplasia calcificans metaphysealis
• Chondrodysplasia lethal neonatal with snail like pelvis - See Schneckenbecken dysplasia
• Chondrodysplasia lethal recessive
• Chondrodysplasia punctata - See Chondrodysplasia punctata syndrome
• Chondrodysplasia punctata 1 X-linked recessive - See Chondrodysplasia punctata 1, X-linked recessive
• Chondrodysplasia punctata 1, X-linked recessive
• Chondrodysplasia punctata brachytelephalangic - See Chondrodysplasia punctata 1, X-linked recessive
• Chondrodysplasia punctata Sheffield type
• Chondrodysplasia punctata syndrome
• Chondrodysplasia punctata with steroid sulfatase deficiency
• Chondrodysplasia punctata, brachytelephalangic - See Chondrodysplasia punctata 1, X-linked recessive
• Chondrodysplasia punctata, humero-metacarpal type
• Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate - See Rhizomelic chondrodysplasia punctata
• Chondrodysplasia punctata, x-linked dominant - See X-linked dominant chondrodysplasia punctata 2
• Chondrodysplasia situs inversus imperforate anus polydactyly
• Chondrodysplasia with joint dislocations, GPAPP type
• Chondrodysplasia, Grebe type
• Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs - See Fraser Jequier Chen syndrome
• Chondrodystrophic myotonia - See Schwartz Jampel syndrome
• Chondrodystrophy
• Chondrodystrophy with sensorineural deafness - See OSMED Syndrome
• Chondroectodermal dysplasia - See Ellis-Van Creveld syndrome
• Chondroectodermal dysplasia-like syndrome - See Jeune syndrome
• Chondrogenesis imperfecta - See Achondrogenesis
• Chondroma
• Chondropathia tuberosa - See Tietze syndrome
• Chondrosarcoma
• CHOPS syndrome
• Chordoid glioma of the third ventricle
• Chordoma
• Chorea acanthocytosis - See Chorea-acanthocytosis
• Chorea familial benign - See Benign hereditary chorea
• Chorea minor
• Chorea, remitting with nystagmus and cataracts
• Chorea-acanthocytosis
• Choreoacanthocytosis - See Chorea-acanthocytosis
• Choreoacanthocytosis amyotrophic
• Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction - See Brain-lung-thyroid syndrome
• Choreoathetosis with mental retardation X- linked - See X-linked intellectual disability, Schimke type
• Choreoathetosis-hypothyroidism-neonatal respiratory distress - See Brain-lung-thyroid syndrome
• Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome - See Brain-lung-thyroid syndrome
• Choriocarcinoma
• Chorioretinal atrophy, progressive bifocal - See Progressive bifocal chorioretinal atrophy
• Chorioretinal coloboma with cerebellar vermis aplasia - See Joubert syndrome with oculorenal anomalies
• Chorioretinal dysplasia-microcephaly-mental retardation syndrome - See Lymphedema, microcephaly and chorioretinopathy syndrome
• Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism - See Ataxia - hypogonadism - choroidal dystrophy
• Chorioretinitis
• Chorioretinopathy dominant form microcephaly
• Choroid plexus carcinoma
• Choroid plexus cyst
• Choroid plexus papilloma
• Choroidal atrophy alopecia - See Moloney syndrome
• Choroidal coloboma - See Retinochoroidal coloboma
• Choroidal dystrophy central areolar
• Choroideremia
• Choroideremia deafness obesity - See Ayazi syndrome
• Choroideremia hypopituitarism
• Choroideremia, obesity, and congenital deafness - See Ayazi syndrome
• Choroiditis
• Choroido-cerebral calcification syndrome with retardation - See Infantile choroidocerebral calcification syndrome
• Choroidoretinal degeneration with retinal reflex in heterozygous women - See Retinitis pigmentosa
• Chotzen syndrome - See Saethre-Chotzen syndrome
• CHR - See Zellweger syndrome
• ChRCC - See Chromophobe renal cell carcinoma
• Christian Demyer Franken syndrome
• Christian Johnson Angenieta syndrome
• Christian syndrome - See Mental retardation skeletal dysplasia abducens palsy
• Christianson syndrome
• Christmas disease - See Hemophilia B
• Christ-Siemens-Touraine syndrome - See X-linked hypohidrotic ectodermal dysplasia
• Chromaffin Paraganglioma of the Adrenal Gland - See Pheochromocytoma
• Chromhidrosis
• Chromoblastomycosis
• Chromomycosis - See Chromoblastomycosis
• Chromophil RCC - See Chromophil renal cell carcinoma
• Chromophil renal cell carcinoma
• Chromophobe renal cell carcinoma
• Chromosomal triplication
• Chromosome Xq27.1 interchromosomal insertion syndrome - See X-linked congenital generalized hypertrichosis
• Chromosome 1 ring - See Ring chromosome 1
• Chromosome 1, uniparental disomy 1q12 q21
• Chromosome 10 ring - See Ring chromosome 10
• Chromosome 10, uniparental disomy
• Chromosome 10p deletion
• Chromosome 10p duplication
• Chromosome 10q deletion
• Chromosome 10q duplication
• Chromosome 11 ring - See Ring chromosome 11
• Chromosome 11p deletion
• Chromosome 11p deletion syndrome - See WAGR syndrome
• Chromosome 11p duplication
• Chromosome 11q deletion
• Chromosome 11q deletion syndrome - See Jacobsen syndrome
• Chromosome 11q duplication
• Chromosome 12 ring - See Ring chromosome 12
• Chromosome 12, Isochromosome 12p syndrome - See Pallister-Killian mosaic syndrome
• Chromosome 12p deletion
• Chromosome 12p duplication
• Chromosome 12q deletion
• Chromosome 12q duplication
• Chromosome 13 ring - See Ring chromosome 13
• Chromosome 13, trisomy 13 complete - See Trisomy 13
• Chromosome 13q deletion
• Chromosome 13q duplication
• Chromosome 14 ring - See Ring chromosome 14
• Chromosome 14q deletion
• Chromosome 14q duplication
• Chromosome 14q22 deletion syndrome - See Frias syndrome
• Chromosome 15 ring - See Ring chromosome 15
• Chromosome 15, trisomy mosaicism
• Chromosome 15q deletion
• Chromosome 15q duplication
• Chromosome 15q tetrasomy - See Isodicentric chromosome 15 syndrome
• Chromosome 15q11.2 deletion - See 15q11.2 microdeletion
• Chromosome 15q11.2 microdeletion - See 15q11.2 microdeletion
• Chromosome 15q13.3 deletion syndrome - See 15q13.3 microdeletion syndrome
• Chromosome 15q13.3 duplication syndrome - See 15q13.3 microduplication syndrome
• Chromosome 15q13.3 microdeletion syndrome - See 15q13.3 microdeletion syndrome
• Chromosome 15q13.3 microduplication syndrome - See 15q13.3 microduplication syndrome
• Chromosome 15q25.2 microdeletion
• Chromosome 16 ring - See Ring chromosome 16
• Chromosome 16 trisomy
• Chromosome 16, uniparental disomy
• Chromosome 16p deletion
• Chromosome 16p duplication
• Chromosome 16p11.2 deletion syndrome - See 16p11.2 deletion syndrome
• Chromosome 16p13.3 deletion syndrome
• Chromosome 16p13.3 duplication
• Chromosome 16q deletion
• Chromosome 16q duplication
• Chromosome 16q24.3 microdeletion syndrome - See 16q24.3 microdeletion syndrome
• Chromosome 17 duplication - See Trisomy 17 mosaicism
• Chromosome 17 ring - See Ring chromosome 17
• Chromosome 17 trisomy - See Trisomy 17 mosaicism
• Chromosome 17, trisomy - See Trisomy 17 mosaicism
• Chromosome 17, trisomy mosaicism - See Trisomy 17 mosaicism
• Chromosome 17p deletion
• Chromosome 17p duplication
• Chromosome 17p11.2 deletion syndrome - See Smith-Magenis syndrome
• Chromosome 17p13.1 deletion syndrome
• Chromosome 17q deletion
• Chromosome 17q duplication
• Chromosome 17q11.2 deletion syndrome
• Chromosome 17q11.2 deletion syndrome, 1.4Mb - See Chromosome 17q11.2 deletion syndrome
• Chromosome 17q12 deletion syndrome - See 17q12 deletion syndrome
• Chromosome 17q12 duplication syndrome - See 17q12 duplication
• Chromosome 17q21.31 microdeletion syndrome - See Koolen de Vries syndrome
• Chromosome 17q23.1-q23.2 deletion syndrome - See 17q23.1q23.2 microdeletion syndrome
• Chromosome 18 ring - See Ring chromosome 18
• Chromosome 18 trisomy - See Trisomy 18
• Chromosome 18p deletion
• Chromosome 18p duplication
• Chromosome 18p tetrasomy
• Chromosome 18q deletion
• Chromosome 18q duplication
• Chromosome 19 ring - See Ring chromosome 19
• Chromosome 19p deletion
• Chromosome 19p duplication
• Chromosome 19q deletion
• Chromosome 19q duplication
• Chromosome 19q13.11 deletion syndrome
• Chromosome 1p deletion
• Chromosome 1p duplication
• Chromosome 1p36 deletion syndrome
• Chromosome 1q deletion
• Chromosome 1q21.1 duplication syndrome
• Chromosome 1q21.1 microdeletion syndrome - See 1q21.1 microdeletion syndrome
• Chromosome 1q41-q42 deletion syndrome
• Chromosome 1q44 microdeletion syndrome - See 1q44 microdeletion syndrome
• Chromosome 2 ring - See Ring chromosome 2
• Chromosome 20 ring - See Ring chromosome 20
• Chromosome 20 trisomy
• Chromosome 20p deletion
• Chromosome 20p duplication
• Chromosome 20q deletion
• Chromosome 20q duplication
• Chromosome 21 ring - See Ring chromosome 21
• Chromosome 21, uniparental disomy
• Chromosome 21q deletion
• Chromosome 21q duplication
• Chromosome 22 partial tetrasomy - See Cat eye syndrome
• Chromosome 22 ring - See Ring chromosome 22
• Chromosome 22 trisomy - See Trisomy 22
• Chromosome 22q deletion
• Chromosome 22q duplication
• Chromosome 22q11.2 deletion syndrome - See 22q11.2 deletion syndrome
• Chromosome 22q11.2 duplication syndrome - See 22q11.2 duplication syndrome
• Chromosome 22q13.3 deletion syndrome - See 22q13.3 deletion syndrome
• Chromosome 2p deletion
• Chromosome 2p duplication
• Chromosome 2q deletion
• Chromosome 2q duplication
• Chromosome 2q23.1 microdeletion syndrome - See 2q23.1 microdeletion syndrome
• Chromosome 2q24 microdeletion syndrome
• Chromosome 2q37 deletion syndrome - See 2q37 deletion syndrome
• Chromosome 3 ring - See Ring chromosome 3
• Chromosome 3, monosomy 3p25 - See Chromosome 3p- syndrome
• Chromosome 3, trisomy 3q - See Chromosome 3q duplication
• Chromosome 3p deletion
• Chromosome 3p duplication
• Chromosome 3p- syndrome
• Chromosome 3pter-p25 Deletion Syndrome - See Chromosome 3p- syndrome
• Chromosome 3q deletion
• Chromosome 3q duplication
• Chromosome 3q29 microdeletion syndrome - See 3q29 microdeletion syndrome
• Chromosome 3q29 microduplication syndrome
• Chromosome 4 ring - See Ring chromosome 4
• Chromosome 4p deletion
• Chromosome 4p duplication
• Chromosome 4p syndrome - See Wolf-Hirschhorn syndrome
• Chromosome 4q deletion
• Chromosome 4q duplication
• Chromosome 5 ring - See Ring chromosome 5
• Chromosome 5, uniparental disomy
• Chromosome 5p deletion
• Chromosome 5p deletion syndrome - See Cri du chat syndrome
• Chromosome 5p duplication
• Chromosome 5p- syndrome - See Cri du chat syndrome
• Chromosome 5q deletion
• Chromosome 5q duplication
• Chromosome 5q14.3 deletion syndrome - See 5q14.3 microdeletion syndrome
• Chromosome 6 ring - See Ring chromosome 6
• Chromosome 6-associated transient diabetes mellitus - See Transient neonatal diabetes mellitus
• Chromosome 6p deletion
• Chromosome 6p duplication
• Chromosome 6q deletion
• Chromosome 6q duplication
• Chromosome 6q25 microdeletion syndrome
• Chromosome 7 ring - See Ring chromosome 7
• Chromosome 7p deletion
• Chromosome 7p duplication
• Chromosome 7q deletion
• Chromosome 7q duplication
• Chromosome 7q11.23 duplication syndrome - See 7q11.23 duplication syndrome
• Chromosome 8 ring - See Ring chromosome 8
• Chromosome 8p deletion
• Chromosome 8p duplication
• Chromosome 8p23.1 deletion
• Chromosome 8q deletion
• Chromosome 8q duplication
• Chromosome 8q12 microduplication syndrome - See 8q12 microduplication syndrome
• Chromosome 8q24.3 deletion syndrome
• Chromosome 9 inversion - not a rare disease
• Chromosome 9 ring - See Ring chromosome 9
• Chromosome 9p deletion
• Chromosome 9p duplication
• Chromosome 9p tetrasomy - See Tetrasomy 9p
• Chromosome 9q deletion
• Chromosome 9q deletion syndrome - See Kleefstra syndrome
• Chromosome 9q duplication
• Chromosome 9q34.3 deletion syndrome - See Kleefstra syndrome
• Chromosome triploidy syndrome - See Triploidy
• Chromosome X Monosomy X - See Turner syndrome
• Chromosome X pentasomy - See 49,XXXXX syndrome
• Chromosome Xp deletion
• Chromosome Xp11.23-p11.22 duplication syndrome - See Microduplication Xp11.22-p11.23 syndrome
• Chromosome Xq deletion
• Chromosome Xq duplication
• Chromosome Xq28 deletion syndrome
• Chromosome XXXXX syndrome - See 49,XXXXX syndrome
• Chromosome19p13.12 microdeletion - See 19p13.12 microdeletion syndrome
• Chronic active Epstein-Barr disease - See Chronic active Epstein-Barr virus infection
• Chronic active Epstein-Barr virus infection
• Chronic Ataxic Neuropathy Ophthalmoplegia M-protein Agglutination Disialosyl antibodies syndrome - See CANOMAD syndrome
• Chronic atrial and intestinal dysrhythmia - See CAID syndrome
• Chronic atrial intestinal dysrhythmia syndrome - See CAID syndrome
• Chronic atrophic polychondritis - See Relapsing polychondritis
• Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
• Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome - See Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
• Chronic B-cell leukemia - See Leukemia, B-cell, chronic
• Chronic dacryoadenitis and sialadenitis - See IgG4-related dacryoadenitis and sialadenitis
• Chronic demyelinizing neuropathy with IgM monoclonal
• Chronic eosinophilic pneumonia (CEP)
• Chronic erosive gastritis
• Chronic familial neutropenia - See Neutropenia chronic familial
• Chronic fatigue immune dysfunction syndrome - See Chronic fatigue syndrome - not a rare disease
• Chronic fatigue syndrome - not a rare disease
• Chronic graft versus host disease
• Chronic granulocytic leukemia - See Chronic myeloid leukemia
• Chronic granulomatous disease
• Chronic GVHD - See Chronic graft versus host disease
• Chronic heavy metal poisoning - See Heavy metal poisoning
• Chronic hiccups
• Chronic idiopathic eosinophilic pneumonia - See Chronic eosinophilic pneumonia (CEP)
• Chronic Idiopathic Jaundice - See Dubin-Johnson syndrome
• Chronic Infantile Neurological Cutaneous Articular syndrome - See Neonatal Onset Multisystem Inflammatory disease
• Chronic inflammatory demyelinating polyneuropathy
• Chronic Inflammatory Demyelinating Polyradiculoneuropathy - See Chronic inflammatory demyelinating polyneuropathy
• Chronic intestinal pseudoobstruction
• Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
• Chronic lymphocytic leukemia
• Chronic lymphocytic thyroiditis - See Hashimoto's syndrome - not a rare disease
• Chronic Marchiafava-Bignami syndrome - See Marchiafava Bignami disease
• Chronic mucocutaneous candidiasis (CMC) - not a rare disease
• Chronic multifocal osteomyelitis - See Chronic recurrent multifocal osteomyelitis
• Chronic multifocal osteomyolitis in ML - See Infantile recurrent chronic multifocal osteomyolitis
• Chronic myelogenous leukemia - See Chronic myeloid leukemia
• Chronic myeloid leukemia
• Chronic myelomonocytic leukemia
• Chronic myeloproliferative disorders
• Chronic neutrophilic leukemia
• Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis - See Chronic recurrent multifocal osteomyelitis
• Chronic othostatic intolerance - See Postural orthostatic tachycardia syndrome - not a rare disease
• Chronic peptic ulcer and esophagitis syndrome - See Barrett esophagus - not a rare disease
• Chronic polyradiculoneuritis
• Chronic progressive external ophthalmoplegia
• Chronic progressive external ophthalmoplegia with myopathy - See Kearns-Sayre syndrome
• Chronic pulmonary Berylliosis - See Beryllium disease
• Chronic recurrent multifocal osteomyelitis
• Chronic recurrent multifocal osteomyelitis, congenital - See Majeed syndrome
• Chronic sensory ataxic neuropathy with anti-disialosyl antibodies - See CANOMAD syndrome
• Chronic silicosis - See Silicosis
• Chronic T-cell leukemia - See Leukemia, T-cell, chronic
• Chronic thromboembolic pulmonary hypertension
• Chronic urticaria with gammapathy - See Schnitzler syndrome
• Chronic urticaria with gammopathy - See Schnitzler syndrome
• Chronic urticaria with macroglobulinemia - See Schnitzler syndrome
• CHS - See Chediak-Higashi syndrome
• Chudley Rozdilsky syndrome
• Chudley syndrome - See Chudley Rozdilsky syndrome
• Chudley-Mccullough syndrome
• Churg-Strauss syndrome - See Eosinophilic granulomatosis with polyangiitis
• Churg-Strauss vasculitis - See Eosinophilic granulomatosis with polyangiitis
• Chylomicron retention disease
• Chylothorax, congenital
• Chylous ascites
• CIBD - See Cytomegalic inclusion disease
• Cicatricial pemphigoid
• Cicatricial pemphigoid of the Brunsting-Perry type - See Brunsting-Perry syndrome
• Cicatricial pemphigoid, ocular - See Ocular cicatricial pemphigoid
• CID due to LRBA deficiency - See LRBA deficiency
• CID due to MAGT1 deficiency - See X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• CID due to partial RAG1 deficiency - See Combined immunodeficiency due to partial RAG1 deficiency
• CID due to PGM3 deficiency - See PGM3-CDG
• CID due to RAG 1/2 deficiency - See Combined immunodeficiency with skin granulomas
• CID with expansion of gamma delta T cells - See Combined immunodeficiency due to partial RAG1 deficiency
• CIDEC-related familial partial lipodystrophy - See Familial partial lipodystrophy
• CIDEC-related FPLD - See Familial partial lipodystrophy
• CIDP - See Chronic inflammatory demyelinating polyneuropathy
• CIE - See Nonbullous congenital ichthyosiform erythroderma
• Ciguatera fish poisoning
• Ciguatera poisoning - See Ciguatera fish poisoning
• CIID - See ICF syndrome
• CIIP - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• CIIP X-linked - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• CIIPX - See Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
• Cilia with defective radial spokes - See Immotile cilia syndrome, due to defective radial spokes
• Ciliary discoordination, due to random ciliary orientation
• Ciliary dyskinesia primary - See Primary ciliary dyskinesia
• Ciliary dyskinesia with excessively long cilia
• Ciliary dyskinesia, due to transposition of ciliary microtubules
• Ciliary dyskinesia-bronchiectasis
• Cilliers-Beighton syndrome - See Beukes familial hip dysplasia
• CINCA - See Neonatal Onset Multisystem Inflammatory disease
• CINCA syndrome - See Neonatal Onset Multisystem Inflammatory disease
• CIP with hyperhidrosis and gastrointestinal dysfunction - See Hereditary sensory and autonomic neuropathy type 7
• CIPA - See Congenital insensitivity to pain with anhidrosis
• CIPO - See Chronic intestinal pseudoobstruction
• Circadian rhythm sleep disorder, free-running type - See Non 24 hour sleep wake disorder
• Circumferential skin creases Kunze type
• Circumscribed cutaneous aplasia of the vertex
• Circumscribed disseminated keratosis Jadassohn Lew type
• Circumscribed hairy dysembryoplasia of palms - See Hairy palms and soles
• Cirrhosis, familial, with deposition of abnormal glycogen - See Glycogen storage disease type 4
• CISS - See Cold-induced sweating syndrome
• Citrin deficiency - See Neonatal intrahepatic cholestasis caused by citrin deficiency
• Citrin deficiency - See Adult-onset citrullinemia type II
• Citrulline transport defect
• Citrullinemia 1 - See Citrullinemia type I
• Citrullinemia type 2 - See Adult-onset citrullinemia type II
• Citrullinemia type I
• Citrullinemia type II - See Adult-onset citrullinemia type II
• Citrullinuria - See Citrullinemia type I
• CJD - See Creutzfeldt-Jakob disease
• CK - See Chikungunya
• Cl. septicum infection - See Clostridium septicum infection
• CLAH - See Congenital lipoid adrenal hyperplasia
• CLAM - See Pontocerebellar hypoplasia type 3
• Clark-Baraitser syndrome
• Clarkson disease - See Systemic capillary leak syndrome
• Clasped thumb and mental retardation - See Spastic paraplegia 1
• Clasped thumbs, congenital
• Classic 21-OHD CAH - See Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Classic citrullinemia - See Citrullinemia type I
• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• Classic distal renal tubular acidosis - See SLC4A1-associated distal renal tubular acidosis
• Classic Ehlers-Danlos syndrome - See Classical Ehlers-Danlos syndrome
• Classic ependymoma - See Ependymoma
• Classic galactosemia
• Classic hemochromatosis - See Hemochromatosis type 1 - not a rare disease
• Classic hemophilia - See Hemophilia A
• Classic homocystinuria - See Homocystinuria due to CBS deficiency
• Classic lissencephaly - See Lissencephaly 1
• Classic non-deforming OI with blue sclerae - See Osteogenesis imperfecta type I
• Classic type RTA - See SLC4A1-associated distal renal tubular acidosis
• Classical Ehlers-Danlos syndrome
• Classical hemophilia - See Hemophilia A
• Classical-like EDS - See Classical-like Ehlers-Danlos syndrome
• Classical-like Ehlers-Danlos syndrome
• CLCD - See Cleidocranial dysplasia
• CLD - See Congenital chloride diarrhea
• CLE - See Congenital lobar emphysema
• Clear cell adenoma - See Epithelial-myoepithelial carcinoma
• Clear cell carcinoma - See Epithelial-myoepithelial carcinoma
• Clear cell eccrine carcinoma - See Hidradenocarcinoma
• Clear cell ependymoma (histologic variant) - See Ependymoma
• Clear cell RCC - See Clear cell renal cell carcinoma
• Clear cell renal cell carcinoma
• Clear-cell metastatic renal cell carcinoma (subtype) - See Clear cell renal cell carcinoma
• clEDS - See Classical-like Ehlers-Danlos syndrome
• Cleft hand absent tibia
• Cleft larynx, posterior - See Novak syndrome
• Cleft Limb Heart Malformation Syndrome - See Verloove Vanhorick Brubakk syndrome
• Cleft lip and palate malrotation cardiopathy
• Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation - See Pilotto syndrome
• Cleft lip and palate, lower lip pits, and limb deficiency defects - See Kuster syndrome
• Cleft lip and/or palate with mucous cysts of lower lip - See Van der Woude syndrome
• Cleft lip palate dysmorphism Kumar type
• Cleft lip palate lip pits limb deficiency - See Kuster syndrome
• Cleft lip palate oligodontia syndactyly pili torti
• Cleft lip palate pituitary deficiency
• Cleft lip palate-tetraphocomelia
• Cleft lip with progressive retinopathy - See Ausems Wittebol-Post Hennekam syndrome
• Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease - See McPherson Clemens syndrome
• Cleft lip/palate oligodontia syndactyly hair alterations - See Martinez Monasterio Pinheiro syndrome
• Cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies - SeePopliteal pterygium syndrome
• Cleft lip/palate with abnormal thumbs and microcephaly - See Juberg-Hayward syndrome
• Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly - See Acrofrontofacionasal dysostosis syndrome
• Cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus - See Crane-Heise syndrome
• Cleft lip/palate-ectodermal dysplasia syndrome - See Zlotogora syndrome
• Cleft lip/palate-syndactyly-pili torti - See Zlotogora syndrome
• Cleft lip/palate-syndactyly-pili torti syndrome - See Zlotogora syndrome
• Cleft lower lip cleft lateral canthi chorioretinal
• Cleft lower lip cleft lateral canthi chorioretinal degeneration - See Maumenee syndrome
• Cleft nare, brachydactyly, short stature dwarfism - See Berk-Tabatznik syndrome
• Cleft palate colobomata radial synostosis deafness
• Cleft palate heart disease polydactyly absent tibia
• Cleft palate large ears small head - See Say syndrome
• Cleft palate lateral synechia syndrome
• Cleft palate short stature vertebral anomalies
• Cleft palate stapes fixation oligodontia
• Cleft palate X-linked
• Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects - See Seres-Santamaria Arimany Muniz syndrome
• Cleft palate, Cardiac defect, Genital anomalies, and Ectrodactily - See Acrocardiofacial syndrome
• Cleft palate, cardiac defects, and intellectual disability
• Cleft palate, microcephaly, large ears, and short stature - See Say syndrome
• Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet, - See Ho Kaufman Mcalister syndrome
• Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
• Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome - See Acrocardiofacial syndrome
• Cleft palate-omphalocele syndrome, lethal - See Omphalocele cleft palate syndrome lethal
• Cleft spine - See Spina bifida
• Cleft tongue
• Clefting, ectropion, and conical teeth - See Ectropion inferior cleft lip and or palate
• Cleido rhizomelic syndrome - See Cleidorhizomelic syndrome
• Cleidocranial dysostosis - See Cleidocranial dysplasia
• Cleidocranial dysplasia
• Cleidocranial dysplasia recessive form
• Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia - See Yunis-Varon syndrome
• Cleidorhizomelic syndrome
• Clericuzio type poikiloderma with neutropenia - See Poikiloderma with neutropenia
• CLH Syndrome - See Verloove Vanhorick Brubakk syndrome
• C-like syndrome - See Bohring-Opitz syndrome
• Clinical anophthalmia - See Microphthalmia
• Clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations - See Microphthalmia syndromic 9
• CLIPPERS - See Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
• CLL - See Chronic lymphocytic leukemia
• CLM - See Cutaneous larva migrans
• CLN 9 - See Neuronal ceroid lipofuscinosis 9
• CLN1 - See Ceroid lipofuscinosis neuronal 1
• CLN1 variable age at onset - See Ceroid lipofuscinosis neuronal 1
• CLN10 - See Neuronal ceroid lipofuscinosis 10
• CLN10 disease, adult (subtype) - See Neuronal ceroid lipofuscinosis 10
• CLN10 disease, congenital (subtype) - See Neuronal ceroid lipofuscinosis 10
• CLN10 disease, juvenile (subtype) - See Neuronal ceroid lipofuscinosis 10
• CLN10 disease, late infantile (subtype) - See Neuronal ceroid lipofuscinosis 10
• CLN2 - See Neuronal ceroid lipofuscinosis 2
• CLN2 disease, juvenile (subtype) - See Neuronal ceroid lipofuscinosis 2
• CLN2 disease, late infantile (subtype) - See Neuronal ceroid lipofuscinosis 2
• CLN3 disease, juvenile - See Neuronal ceroid lipofuscinosis 3
• CLN4 disease, adult autosomal dominant - See Adult neuronal ceroid lipofuscinosis
• CLN4B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
• CLN4B disease - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
• CLN5 - See Neuronal ceroid lipofuscinosis 5
• CLN5 disease, adult - See Neuronal ceroid lipofuscinosis 5
• CLN5 disease, juvenile - See Neuronal ceroid lipofuscinosis 5
• CLN5 disease, late infantile (subtype) - See Neuronal ceroid lipofuscinosis 5
• CLN6 - See Neuronal ceroid lipofuscinosis 6
• CLN6 disease, adult Kufs type A (subtype) - See Neuronal ceroid lipofuscinosis 6
• CLN6 disease, late infantile (subtype) - See Neuronal ceroid lipofuscinosis 6
• CLN7 - See Neuronal ceroid lipofuscinosis 7
• CLN7 disease - See Neuronal ceroid lipofuscinosis 7
• CLN7 disease, late infantile - See Neuronal ceroid lipofuscinosis 7
• CLN8 - See Northern epilepsy
• CLN8 disease, EPMR (subtype) - See Northern epilepsy
• CLN8 disease, late infantile (subtype) - See Northern epilepsy
• CLN8 disease, Northern epilepsy variant - See Northern epilepsy
• Cloacal exstrophy - See Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
• Cloacal exstrophy sequence - See Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
• Closed spina bifida - See Spina bifida occulta - not a rare disease
• Clostridium perfringens infection
• Clostridium septicum infection
• Clostridium sordellii infection
• Clostridium sordellii toxic shock syndrome - See Clostridium sordellii infection
• Clouston syndrome
• Clouston syndrome - See Clouston syndrome
• Clouston's hidrotic ectodermal dysplasia - See Clouston syndrome
• CLOVE syndrome - See CLOVES syndrome
• Cloverleaf skull and asphyxiating thoracic dysplasia - See Benallegue Lacete syndrome
• Cloverleaf skull generalised bone dysplasia - See Kozlowski Warren Fisher syndrome
• Cloverleaf skull syndrome - See Kleeblattschaedel syndrome
• Cloverleaf skull with thanatophoric dwarfism - See Thanatophoric dysplasia type 2
• Cloverleaf skull-micromelic bone dysplasia syndrome - See Thanatophoric dysplasia type 2
• CLOVES syndrome
• CLPED1 - See Zlotogora syndrome
• CLS - See Coffin-Lowry syndrome
• Clubfoot - See Talipes equinovarus - not a rare disease
• Cluster headache - not a rare disease
• Cluttering
• CLWM - See RNAse T2-deficient leukoencephalopathy
• CMAMMA - See Combined malonic and methylmalonic aciduria
• CMAVM - See Capillary malformation-arteriovenous malformation syndrome
• CM-AVM syndrome - See Capillary malformation-arteriovenous malformation syndrome
• CMC - See Chronic mucocutaneous candidiasis (CMC) - not a rare disease
• CMD - See Congenital muscular dystrophy
• CMD - See Craniometaphyseal dysplasia, autosomal dominant
• CMD due to dystroglycanopathy - See Congenital muscular dystrophy
• CMD with intellectual disability and severe epilepsy - See DPM2-CDG
• CMD1 - See Campomelic dysplasia
• CMDD - See Craniometaphyseal dysplasia, autosomal dominant
• CMDJ - See Craniometaphyseal dysplasia, autosomal dominant
• CMDR - See Craniometaphyseal dysplasia, autosomal recessive type
• CML - See Chronic myeloid leukemia
• CML-like syndrome, familial - See Myelocytic leukemia-like syndrome, familial, chronic
• CMM - See Congenital mirror movement disorder
• CMO - See Chronic recurrent multifocal osteomyelitis
• CMO 1 deficiency - See 18 Hydroxylase deficiency