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

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

• CHARGE association - See CHARGE syndrome
• CHARGE like syndrome X-linked - See Abruzzo-Erickson syndrome
• CHARGE syndrome
• Charles Bonnet syndrome
• Charlevoix disease - See Andermann syndrome
• Charlevoix-Saguenay spastic ataxia - See Spastic ataxia Charlevoix-Saguenay type
• Charlie M syndrome
• CHD2 encephalopathy - See CHD2 myoclonic encephalopathy
• CHD2 myoclonic encephalopathy
• CHD2-related neurodevelopmental disorders - See CHD2 myoclonic encephalopathy
• CHED2 - See Corneal endothelial dystrophy type 2
• Chediak Higashi syndrome - See Chediak-Higashi syndrome
• Chediak-Higashi syndrome
• Cheilitis glandularis
• Cheilitis Granulomatosa - See Melkersson-Rosenthal syndrome
• Chemke Oliver Mallek syndrome - See Oculo digital syndrome
• Chemke syndrome - See Walker-Warburg syndrome
• Chemke-Oliver-Mallek syndrome - See Oculo digital syndrome
• Chemodectomas - See Paragangliomas 1
• Cheney syndrome - See Acroosteolysis dominant type
• Cherry red spot myoclonus syndrome - See Sialidosis type I
• Cherubism
• Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth - See Ramon Syndrome
• Cherubism, optic atrophy and short stature - See Al Gazali Khidr Prem Chandran syndrome
• Chester porphyria
• Cheveux incoiffables - See Uncombable hair syndrome
• CHH - See Cartilage-hair hypoplasia
• CHHV - See Metaphyseal dysplasia without hypotrichosis
• CHI - See Congenital hyperinsulinism
• Chiari malformation - not a rare disease
• Chiari malformation type 1 - not a rare disease
• Chiari malformation type 2
• Chiari malformation type 3
• Chiari malformation type 4
• Chiari malformation type I - See Chiari malformation type 1 - not a rare disease
• Chiari malformation type II - See Chiari malformation type 2
• Chiari malformation type III - See Chiari malformation type 3
• Chiari malformation type IV - See Chiari malformation type 4
• Chiari type I malformation - See Chiari malformation type 1 - not a rare disease
• Chiari type II malformation - See Chiari malformation type 2
• Chiari type III malformation - See Chiari malformation type 3
• Chiari type IV malformation - See Chiari malformation type 4
• Chiari-Frommel syndrome
• Chigger flea - See Tungiasis
• CHIK - See Chikungunya
• Chikungunya
• Chikungunya fever - See Chikungunya
• Chikungunya virus infection - See Chikungunya
• CHIKV infection - See Chikungunya
• Chilaiditi syndrome
• Chilblains - See Perniosis
• ChILD - See Children's interstitial lung disease
• CHILD syndrome
• Childhood absence epilepsy - See Epilepsy juvenile absence
• Childhood acute lymphoblastic leukemia
• Childhood acute lymphocytic leukemia - See Childhood acute lymphoblastic leukemia
• Childhood ALL - See Childhood acute lymphoblastic leukemia
• Childhood apraxia of speech
• Childhood ataxia with central nervous system hypomyelination/vanishing white matter - See Leukoencephalopathy with vanishing white matter
• Childhood ataxia with diffuse central nervous system hypomyelination - See Leukoencephalopathy with vanishing white matter
• Childhood brain stem glioma
• Childhood Carcinoma of Liver Cell - See Childhood hepatocellular carcinoma
• Childhood cerebral ALD - See Childhood-onset cerebral X-linked adrenoleukodystrophy
• Childhood cerebral astrocytoma - See Cerebral astrocytoma, childhood
• Childhood disintegrative disorder
• Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• Childhood hepatocellular carcinoma
• Childhood Hepatoma - See Childhood hepatocellular carcinoma
• Childhood hypophosphatasia
• Childhood Liver Cell Carcinoma - See Childhood hepatocellular carcinoma
• Childhood medulloblastoma - See Medulloblastoma, childhood
• Childhood onset autosomal recessive slowly progressive spinocerebellar ataxia - See Spinocerebellar ataxia autosomal recessive 7
• Childhood pheochromocytoma - See Pheochromocytoma, childhood
• Childhood schizophrenia - See Childhood-Onset Schizophrenia
• Childhood Supratentorial Embryonal Tumor, NOS - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood Supratentorial PNET - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood supratentorial primitive neuroectodermal tumors - See Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified
• Childhood-onset cerebral X-linked adrenoleukodystrophy
• Childhood-onset dystonia-28 - See DYT-KMT2B
• Childhood-onset epileptic encephalopathy - See CHD2 myoclonic encephalopathy
• Childhood-onset hypophosphatasia - See Childhood hypophosphatasia
• Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - See Childhood-onset neurodegeneration with brain atrophy
• Childhood-onset nemaline myopathy
• Childhood-onset neurodegeneration with brain atrophy
• Childhood-onset phosphoethanolaminuria - See Childhood hypophosphatasia
• Childhood-onset polyarteritis nodosa - See Adenosine Deaminase 2 deficiency
• Childhood-onset Rathburn disease - See Childhood hypophosphatasia
• Childhood-Onset Schizophrenia
• Children's interstitial lung disease
• 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-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, 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 self-mutilation syndrome - See Lesch Nyhan 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
• 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
• 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
• 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 - See Familiar chronic mucocutaneous candidiasis - not a rare disease
• Chronic multifocal osteomyelitis - See Chronic recurrent multifocal osteomyelitis
• 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 EDS type 1 - See Classical-like Ehlers-Danlos syndrome
• Classical-like Ehlers-Danlos syndrome
• Classical-like Ehlers-Danlos syndrome type 1 - See 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
• clEDS type 1 - See Classical-like Ehlers-Danlos syndrome
• Cleft hand absent tibia
• 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 - See Popliteal 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 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 Familiar chronic mucocutaneous candidiasis - not a rare disease
• CMD - See Craniometaphyseal dysplasia, autosomal dominant
• CMD - See Congenital muscular dystrophy
• 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
• CMPD - See Campomelic dysplasia
• CMPD1 - See Campomelic dysplasia
• CMPD1/SRA1 - See Campomelic dysplasia
• CMP-sialic acid transporter deficiency - See SLC35A1-CDG (CDG-IIf)
• CMRD - See Chylomicron retention disease
• CMS - See Congenital myasthenic syndrome
• CMS IIa - See Slow-channel congenital myasthenic syndrome
• CMS w/episodic apnea - See Congenital myasthenic syndrome with episodic apnea
• CMS1A - See Congenital myasthenic syndrome with episodic apnea
• CMS2A - See Slow-channel congenital myasthenic syndrome
• CMS-EA - See Congenital myasthenic syndrome with episodic apnea
• CMT - See Charcot-Marie-Tooth disease
• CMT 1A - See Charcot-Marie-Tooth disease type 1A
• CMT 1B - See Charcot-Marie-Tooth disease
• CMT 1C - See Charcot-Marie-Tooth disease
• CMT 1D - See Charcot-Marie-Tooth disease
• CMT 1E - See Charcot-Marie-Tooth disease type 1E
• CMT 1F - See Charcot-Marie-Tooth disease
• CMT 2A - See Charcot-Marie-Tooth disease type 2A
• CMT 2B - See Charcot-Marie-Tooth disease type 2B
• CMT 2B1 - See Charcot-Marie-Tooth disease
• CMT 2B2 - See Charcot-Marie-Tooth disease
• CMT 2C - See Charcot-Marie-Tooth disease
• CMT 2D - See Charcot-Marie-Tooth disease
• CMT 2E - See Charcot-Marie-Tooth disease
• CMT 2F - See Charcot-Marie-Tooth disease type 2F
• CMT 2G - See Charcot-Marie-Tooth disease
• CMT 2H - See Charcot-Marie-Tooth disease
• CMT 2I - See Charcot-Marie-Tooth disease
• CMT 2J - See Charcot-Marie-Tooth disease
• CMT 2K - See Charcot-Marie-Tooth disease
• CMT 4B - See Charcot-Marie-Tooth disease
• CMT 4B1 - See Charcot-Marie-Tooth disease
• CMT 4B2 - See Charcot-Marie-Tooth disease type 4B2
• CMT 4C - See Charcot-Marie-Tooth disease
• CMT 4E - See Charcot-Marie-Tooth disease
• CMT with pyramidal features - See Hereditary motor and sensory neuropathy type 5
• CMT1 - See Charcot-Marie-Tooth disease type 1
• CMT2 - See Charcot-Marie-Tooth disease type 2
• CMT2 with giant axons - See Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
• CMT2H - See Charcot-Marie-Tooth disease
• CMT2L - See Charcot-Marie-Tooth disease
• CMT2N - See Charcot-Marie-Tooth disease
• CMT2O - See Charcot-Marie-Tooth disease
• CMT2P - See Charcot-Marie-Tooth disease type 2P
• CMT2Q - See Charcot-Marie-Tooth disease
• CMT2R - Another name for Charcot-Marie-Tooth disease type 2R
• CMT3 - See Hypertrophic neuropathy of Dejerine-Sottas
• CMT4 - See Charcot-Marie-Tooth disease type 4
• CMT4A - See Charcot-Marie-Tooth disease
• CMT4D - See Charcot-Marie-Tooth disease
• CMT4E - See Charcot-Marie-Tooth disease
• CMT4G - See Neuropathy, hereditary motor and sensory, Russe type
• CMT4H - See Charcot-Marie-Tooth disease
• 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)