miércoles, 25 de enero de 2017

Health Conditions - Genetics Home Reference: C | Published: January 24, 2017

Health Conditions - Genetics Home Reference

Genetics Home Reference, Your Guide to Understanding Genetic Conditions

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
Genetics Home Reference, Your Guide to Understanding Genetic Conditions



  • C-like syndrome, see Bohring-Opitz syndrome

  • C1 esterase inhibitor deficiency, see hereditary angioedema

  • C1 inhibitor deficiency, see hereditary angioedema

  • C2 deficiency, see complement component 2 deficiency

  • C2D, see complement component 2 deficiency

  • C3 glomerulonephritis, see C3 glomerulopathy

  • C3 glomerulopathy

  • C3 inactivator deficiency, see complement factor I deficiency

  • C3G, see C3 glomerulopathy

  • C8 deficiency, see complement component 8 deficiency

  • CA-VA deficiency, see carbonic anhydrase VA deficiency

  • CA5AD, see carbonic anhydrase VA deficiency

  • CAA, see hereditary cerebral amyloid angiopathy

  • CACH syndrome, see leukoencephalopathy with vanishing white matter

  • CACT deficiency, see carnitine-acylcarnitine translocase deficiency

  • CADASIL, see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

  • Caffey disease

  • Caffey-Silverman syndrome, see Caffey disease

  • CAH1, see 21-hydroxylase deficiency

  • CAHTP, see brain-lung-thyroid syndrome

  • CAID, see chronic atrial and intestinal dysrhythmia

  • calcifying epithelioma of Malherbe, see pilomatricoma

  • callosal agenesis and ocular abnormalities, see Aicardi syndrome

  • Calve-Perthes disease, see Legg-Calvé-Perthes disease

  • campomelic dwarfism, see campomelic dysplasia

  • campomelic dysplasia

  • campomelic syndrome, see campomelic dysplasia

  • camptodactyly-overgrowth-unusual facies, see Weaver syndrome

  • camptomelic dysplasia, see campomelic dysplasia

  • Camurati-Engelmann disease

  • Camurati-Engelmann Syndrome, see Camurati-Engelmann disease

  • Canale-Smith syndrome, see autoimmune lymphoproliferative syndrome

  • Canavan disease

  • Canavan's disease, see Canavan disease

  • cancer family syndrome, see Lynch syndrome

  • cancer of breast, see breast cancer

  • cancer of bronchus, see lung cancer

  • Cancer of the bladder, see bladder cancer

  • cancer of the lung, see lung cancer

  • cancer of the ovary, see ovarian cancer

  • cancer of the prostate, see prostate cancer

  • Cannon's disease, see white sponge nevus

  • Cantu syndrome, see Cantú syndrome

  • Cantú syndrome

  • cap disease, see cap myopathy

  • cap myopathy

  • capillary malformation-arteriovenous malformation, see capillary malformation-arteriovenous malformation syndrome

  • capillary malformation-arteriovenous malformation syndrome

  • CARASIL, see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

  • carbamoyl phosphate synthetase I deficiency

  • carbamoyl-phosphate synthase I deficiency disease, see carbamoyl phosphate synthetase I deficiency

  • carbamyl-phosphate synthetase I deficiency disease, see carbamoyl phosphate synthetase I deficiency

  • carbohydrate deficient glycoprotein syndrome type IIi, see COG5-congenital disorder of glycosylation

  • carbohydrate deficient glycoprotein syndrome type Ik, see ALG1-congenital disorder of glycosylation

  • carbohydrate intolerance, see glucose-galactose malabsorption

  • carbohydrate-deficient glycoprotein syndrome type Ia, see PMM2-congenital disorder of glycosylation

  • carbohydrate-deficient glycoprotein syndrome type Ic, see ALG6-congenital disorder of glycosylation

  • carbohydrate-deficient glycoprotein syndrome type V, see ALG6-congenital disorder of glycosylation

  • carbonic anhydrase VA deficiency

  • carbonic anhydrase XII deficiency, see isolated hyperchlorhidrosis

  • carboxylase deficiency, multiple, late-onset, see biotinidase deficiency

  • cardiac-limb syndrome, see Holt-Oram syndrome

  • Cardio-auditory-syncope syndrome, see Jervell and Lange-Nielsen syndrome

  • cardio-cutaneous syndrome, see Noonan syndrome with multiple lentigines

  • cardio-facio-cutaneous syndrome, see cardiofaciocutaneous syndrome

  • Cardioauditory syndrome of Jervell and Lange-Nielsen, see Jervell and Lange-Nielsen syndrome

  • cardiofaciocutaneous syndrome

  • cardiomyopathic lentiginosis, see Noonan syndrome with multiple lentigines

  • cardiomyopathy, restrictive, see familial restrictive cardiomyopathy

  • cardioskeletal myopathy with neutropenia and abnormal mitochondria, see Barth syndrome

  • cardiovertebral syndrome, see Alagille syndrome

  • Carmi syndrome, see epidermolysis bullosa with pyloric atresia

  • Carnevale syndrome, see 3MC syndrome

  • Carnevale-Krajewska-Fischetto syndrome, see 3MC syndrome

  • Carney complex

  • Carney Syndrome, see Carney complex

  • carnitine acylcarnitine translocase deficiency, see carnitine-acylcarnitine translocase deficiency

  • carnitine palmitoyltransferase 2 deficiency, see carnitine palmitoyltransferase II deficiency

  • carnitine palmitoyltransferase I deficiency

  • carnitine palmitoyltransferase IA deficiency, see carnitine palmitoyltransferase I deficiency

  • carnitine palmitoyltransferase II deficiency

  • carnitine transporter deficiency, see primary carnitine deficiency

  • carnitine uptake defect, see primary carnitine deficiency

  • carnitine uptake deficiency, see primary carnitine deficiency

  • carnitine-acylcarnitine carrier deficiency, see carnitine-acylcarnitine translocase deficiency

  • carnitine-acylcarnitine translocase deficiency

  • carpal synostosis with dysplastic elbow joints and brachydactyly, see Liebenberg syndrome

  • Carpenter syndrome

  • cartilage-hair hypoplasia

  • cartilage-hair syndrome, see cartilage-hair hypoplasia

  • CAS, see FOXP2-related speech and language disorder

  • CASK-related disorders, see CASK-related intellectual disability

  • CASK-related intellectual disability

  • cat cry syndrome, see cri-du-chat syndrome

  • catalase deficiency, see acatalasemia

  • CATCH22, see 22q11.2 deletion syndrome

  • Catecholamine-induced polymorphic ventricular tachycardia, see catecholaminergic polymorphic ventricular tachycardia

  • catecholaminergic polymorphic ventricular tachycardia

  • cathepsin D deficiency, see CLN10 disease

  • cathepsin D deficient neuronal ceroid lipofuscinosis, see CLN10 disease

  • Catlin marks, see enlarged parietal foramina

  • CATSPER-related nonsyndromic male infertility, see CATSPER1-related nonsyndromic male infertility

  • CATSPER1-related male infertility, see CATSPER1-related nonsyndromic male infertility

  • CATSPER1-related nonsyndromic male infertility

  • caudal dysgenesis syndrome, see caudal regression syndrome

  • caudal dysplasia sequence, see caudal regression syndrome

  • caudal regression sequence, see caudal regression syndrome

  • caudal regression syndrome

  • CAV3-related distal myopathy

  • CAVD, see congenital bilateral absence of the vas deferens

  • Cayler cardiofacial syndrome, see 22q11.2 deletion syndrome

  • CBAS1, see congenital bile acid synthesis defect type 1

  • CBAS2, see congenital bile acid synthesis defect type 2

  • CBAVD, see congenital bilateral absence of the vas deferens

  • CBF acute myeloid leukemia, see core binding factor acute myeloid leukemia

  • CBF-AML, see core binding factor acute myeloid leukemia

  • CBG deficiency, see corticosteroid-binding globulin deficiency

  • CC, see cholangiocarcinoma

  • CCA, see congenital contractural arachnodactyly

  • CCD, see central core disease

  • CCFDN, see congenital cataracts, facial dysmorphism, and neuropathy

  • CCHD, see critical congenital heart disease

  • CCHS, see congenital central hypoventilation syndrome

  • CCM, see cerebral cavernous malformation

  • CCO, see central core disease

  • CD, see Cowden syndrome

  • CDA, see congenital dyserythropoietic anemia

  • CDG Ia, see PMM2-congenital disorder of glycosylation

  • CDG Ig, see ALG12-congenital disorder of glycosylation

  • CDG IIi, see COG5-congenital disorder of glycosylation

  • CDG syndrome type Ic, see ALG6-congenital disorder of glycosylation

  • CDG1a, see PMM2-congenital disorder of glycosylation

  • CDG1C, see ALG6-congenital disorder of glycosylation

  • CDG1G, see ALG12-congenital disorder of glycosylation

  • CDG1K, see ALG1-congenital disorder of glycosylation

  • CDG1M, see DOLK-congenital disorder of glycosylation

  • CDG2I, see COG5-congenital disorder of glycosylation

  • CDGIc, see ALG6-congenital disorder of glycosylation

  • CDGIIi, see COG5-congenital disorder of glycosylation

  • CDGIk, see ALG1-congenital disorder of glycosylation

  • CDGS1a, see PMM2-congenital disorder of glycosylation

  • CDHS, see craniofacial-deafness-hand syndrome

  • CdLS, see Cornelia de Lange syndrome

  • CDMD, see CHST3-related skeletal dysplasia

  • CDPX1, see X-linked chondrodysplasia punctata 1

  • CDPX2, see X-linked chondrodysplasia punctata 2

  • CDS, see Chanarin-Dorfman syndrome

  • CEBPA-dependent familial acute myeloid leukemia, see familial acute myeloid leukemia with mutated CEBPA

  • CED, see cranioectodermal dysplasia

  • CED, see Camurati-Engelmann disease

  • celiac disease

  • celiac sprue, see celiac disease

  • central core disease

  • Central Core Myopathy, see central core disease

  • central diabetes insipidus, see neurohypophyseal diabetes insipidus

  • central nervous system cavernous hemangioma, see cerebral cavernous malformation

  • central neurofibromatosis, see neurofibromatosis type 2

  • central precocious puberty

  • centronuclear myopathy

  • cephalopolysyndactyly syndrome, see Greig cephalopolysyndactyly syndrome

  • ceramidase deficiency, see Farber lipogranulomatosis

  • ceramide trihexosidase deficiency, see Fabry disease

  • cerebellar disorder, nonprogressive, with mental retardation, see VLDLR-associated cerebellar hypoplasia

  • cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, see VLDLR-associated cerebellar hypoplasia

  • cerebellar hypoplasia, VLDLR-associated, see VLDLR-associated cerebellar hypoplasia

  • cerebello-oculo-renal syndrome, see Joubert syndrome

  • cerebellooculorenal syndrome 1, see Joubert syndrome

  • cerebelloretinal angiomatosis, familial, see von Hippel-Lindau syndrome

  • cerebral amyloid angiopathy, familial, see hereditary cerebral amyloid angiopathy

  • cerebral amyloid angiopathy, genetic, see hereditary cerebral amyloid angiopathy

  • cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

  • cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

  • cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

  • cerebral cavernous hemangioma, see cerebral cavernous malformation

  • cerebral cavernous malformation

  • cerebral cholesterinosis, see cerebrotendinous xanthomatosis

  • cerebral creatine deficiency syndrome 3, see arginine:glycine amidinotransferase deficiency

  • cerebral folate deficiency, see cerebral folate transport deficiency

  • cerebral folate transport deficiency

  • cerebral gigantism, see Sotos syndrome

  • cerebral sclerosis, see tuberous sclerosis complex

  • cerebral sclerosis, diffuse, metachromatic form, see metachromatic leukodystrophy

  • cerebro-frontofacial syndrome, type 3, see Baraitser-Winter syndrome

  • cerebrohepatorenal syndrome, see Zellweger spectrum disorder

  • Cerebromuscular dystrophy, Fukuyama type, see Fukuyama congenital muscular dystrophy

  • cerebroocular dysplasia-muscular dystrophy syndrome, see Walker-Warburg syndrome

  • cerebrooculorenal syndrome, see Lowe syndrome

  • cerebroretinal microangiopathy with calcifications and cysts, see Coats plus syndrome

  • cerebroside lipidosis syndrome, see Gaucher disease

  • cerebroside sulphatase deficiency disease, see metachromatic leukodystrophy

  • cerebrotendinous cholesterinosis, see cerebrotendinous xanthomatosis

  • cerebrotendinous xanthomatosis

  • cerebrovascular ferrocalcinosis, see familial idiopathic basal ganglia calcification

  • cerebrovascular moyamoya disease, see moyamoya disease

  • ceroid cipofuscinosis, neuronal, 4B, autosomal dominant, see CLN4 disease

  • ceroid lipofuscinosis neuronal 6, see CLN6 disease

  • cervical fusion syndrome, see Klippel-Feil syndrome

  • cervical vertebral fusion, see Klippel-Feil syndrome

  • cervical vertebral fusion syndrome, see Klippel-Feil syndrome

  • CESD, see cholesteryl ester storage disease

  • CF, see cystic fibrosis

  • CFC syndrome, see cardiofaciocutaneous syndrome

  • CFEOM, see congenital fibrosis of the extraocular muscles

  • CFM, see craniofacial microsomia

  • CFTD, see congenital fiber-type disproportion

  • CFTDM, see congenital fiber-type disproportion

  • CGD, see chronic granulomatous disease

  • CGL, see chronic myeloid leukemia

  • CH, see congenital hypothyroidism

  • CHAC, see chorea-acanthocytosis

  • Chanarin-Dorfman disease, see Chanarin-Dorfman syndrome

  • Chanarin-Dorfman syndrome

  • channelopathy-associated insensitivity to pain, see congenital insensitivity to pain

  • Char syndrome

  • Charcot disease, see amyotrophic lateral sclerosis

  • Charcot-Marie-Tooth disease

  • Charcot-Marie-Tooth hereditary neuropathy, see Charcot-Marie-Tooth disease

  • Charcot-Marie-Tooth syndrome, see Charcot-Marie-Tooth disease

  • CHARGE acronym (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness), see CHARGE syndrome

  • CHARGE association, see CHARGE syndrome

  • CHARGE syndrome

  • Charlevoix disease, see Andermann syndrome

  • Charlevoix-Saguenay spastic ataxia, see autosomal recessive spastic ataxia of Charlevoix-Saguenay

  • CHD2 encephalopathy, see CHD2 myoclonic encephalopathy

  • CHD2 myoclonic encephalopathy

  • CHD2-related neurodevelopmental disorders, see CHD2 myoclonic encephalopathy

  • CHDM, see chordoma

  • Chediak-Higashi syndrome

  • Chediak-Steinbrinck-Higashi syndrome, see Chediak-Higashi syndrome

  • Chemke syndrome, see Walker-Warburg syndrome

  • chemodectoma, see nonsyndromic paraganglioma

  • Cheney syndrome, see Hajdu-Cheney syndrome

  • cherry red spot myoclonus syndrome, see sialidosis

  • cherubism

  • CHF, see congenital hepatic fibrosis

  • CHH, see cartilage-hair hypoplasia

  • CHILD syndrome, see congenital hemidysplasia with ichthyosiform erythroderma and limb defects

  • childhood apraxia of speech, see FOXP2-related speech and language disorder

  • childhood ataxia with central nervous system hypomyelination, see leukoencephalopathy with vanishing white matter

  • childhood epileptic encephalopathy with diffuse slow spikes and waves, see Lennox-Gastaut syndrome

  • childhood myocerebrohepatopathy spectrum

  • childhood-onset polyarteritis nodosa, see adenosine deaminase 2 deficiency

  • childhood-onset primary osteoporosis, see juvenile primary osteoporosis

  • CHMP2B-related frontotemporal dementia

  • CHMRQ1, see VLDLR-associated cerebellar hypoplasia

  • choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, see Burn-McKeown syndrome

  • cholangiocarcinoma

  • cholangiocarcinoma of biliary tract, see cholangiocarcinoma

  • cholangiocellular carcinoma, see cholangiocarcinoma

  • cholestanol storage disease, see cerebrotendinous xanthomatosis

  • cholestanolosis, see cerebrotendinous xanthomatosis

  • 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

  • cholesterol ester hydrolase deficiency, see cholesteryl ester storage disease

  • cholesterol ester storage disease, see cholesteryl ester storage disease

  • Cholesterol thesaurismosis, see Tangier disease

  • cholesteryl ester storage disease

  • cholinesterase II deficiency, see pseudocholinesterase deficiency

  • chondrodysplasia punctata 1, X-linked, see X-linked chondrodysplasia punctata 1

  • chondrodysplasia punctata 2, X-linked, see X-linked chondrodysplasia punctata 2

  • chondrodysplasia punctata, rhizomelic, see rhizomelic chondrodysplasia punctata

  • chondrodysplasia with hemangioma, see Maffucci syndrome

  • chondrodysplasia with multiple dislocations, see CHST3-related skeletal dysplasia

  • chondrodystrophic myotonia, see Schwartz-Jampel syndrome

  • chondrodystrophy with sensorineural deafness, see otospondylomegaepiphyseal dysplasia

  • chondrodystrophy, hydropic and prenatally lethal type, see Greenberg dysplasia

  • chondroectodermal dysplasia, see Ellis-van Creveld syndrome

  • chondroectodermal dysplasia-like syndrome, see asphyxiating thoracic dystrophy

  • chondroplasia angiomatosis, see Maffucci syndrome

  • CHOPS syndrome

  • chordocarcinoma, see chordoma

  • chordoepithelioma, see chordoma

  • chordoma

  • chorea-acanthocytosis

  • choreoacanthocytosis, see chorea-acanthocytosis

  • choreoathetosis self-mutilation syndrome, see Lesch-Nyhan syndrome

  • choreoathetosis, hypothyroidism, and neonatal respiratory distress, see brain-lung-thyroid syndrome

  • chorioretinal anomalies with ACC, see Aicardi syndrome

  • chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism, see Boucher-Neuhäuser syndrome

  • choroidal sclerosis, see choroideremia

  • choroideremia

  • Chotzen syndrome, see Saethre-Chotzen syndrome

  • chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, see brain-lung-thyroid syndrome

  • Christ-Siemens-Touraine Syndrome, see hypohidrotic ectodermal dysplasia

  • Christianson syndrome

  • chromosome 11p11.2 deletion syndrome, see Potocki-Shaffer syndrome

  • chromosome 15q13.3 deletion syndrome, see 15q13.3 microdeletion

  • chromosome 15q15.3 deletion syndrome, see sensorineural deafness and male infertility

  • chromosome 17p deletion syndrome, see Smith-Magenis syndrome

  • chromosome 17q21.31 microdeletion syndrome, see Koolen-de Vries syndrome

  • chromosome 18 long arm deletion syndrome, see 18q deletion syndrome

  • chromosome 18q deletion syndrome, see 18q deletion syndrome

  • chromosome 18q monosomy, see 18q deletion syndrome

  • chromosome 18q- syndrome, see 18q deletion syndrome

  • chromosome 19p13.13 deletion syndrome, see 19p13.13 deletion syndrome

  • chromosome 1p36 deletion syndrome, see 1p36 deletion syndrome

  • chromosome 1q21.1 deletion syndrome, see 1q21.1 microdeletion

  • chromosome 1q21.1 deletion syndrome, 1.35-Mb, see 1q21.1 microdeletion

  • chromosome 1q21.1 deletion syndrome, 200-KB, see thrombocytopenia-absent radius syndrome

  • chromosome 22q11.2 duplication syndrome, see 22q11.2 duplication

  • chromosome 22q11.2 microduplication syndrome, see 22q11.2 duplication

  • chromosome 3, deletion 3p, see 3p deletion syndrome

  • chromosome 3, monosomy 3p, see 3p deletion syndrome

  • chromosome 3-linked frontotemporal dementia, see CHMP2B-related frontotemporal dementia

  • chromosome 3p deletion syndrome, see 3p deletion syndrome

  • chromosome 4p deletion syndrome, see Wolf-Hirschhorn syndrome

  • chromosome 4p monosomy, see Wolf-Hirschhorn syndrome

  • chromosome 5p- syndrome, see cri-du-chat syndrome

  • chromosome 5q deletion syndrome, see 5q minus syndrome

  • chromosome 7q11.23 duplication, see 7q11.23 duplication syndrome

  • chromosome 7q11.23 duplication syndrome, see 7q11.23 duplication syndrome

  • chromosome 9q deletion syndrome, see Kleefstra syndrome

  • chronic atrial and intestinal dysrhythmia

  • chronic congenital agenerative anemia, see Diamond-Blackfan anemia

  • chronic congenital idiopathic hyperphosphatasemia, see juvenile Paget disease

  • chronic familial methemoglobin reductase deficiency, see autosomal recessive congenital methemoglobinemia

  • chronic granulocytic leukemia, see chronic myeloid leukemia

  • chronic granulomatous disease

  • chronic idiopathic intestinal pseudo-obstruction, see intestinal pseudo-obstruction

  • chronic idiopathic myelofibrosis, see primary myelofibrosis

  • chronic infantile neurologic, cutaneous, and articular syndrome, see neonatal onset multisystem inflammatory disease

  • chronic infantile neurological, cutaneous and articular syndrome, see neonatal onset multisystem inflammatory disease

  • chronic lymphocytic thyroiditides, see Hashimoto thyroiditis

  • chronic lymphocytic thyroiditis, see Hashimoto thyroiditis

  • Chronic Motor and Vocal Tic Disorder, see Tourette syndrome

  • chronic myelocytic leukemia, see chronic myeloid leukemia

  • chronic myelogenous leukemia, see chronic myeloid leukemia

  • chronic myeloid leukemia

  • chronic myelomonocytic leukemia, see PDGFRB-associated chronic eosinophilic leukemia

  • chronic myeloproliferative disorder with eosinophilia, see PDGFRB-associated chronic eosinophilic leukemia

  • chronic neurologic, cutaneous, and articular syndrome, see neonatal onset multisystem inflammatory disease

  • chronic progressive external ophthalmoplegia, see progressive external ophthalmoplegia

  • chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis, see Majeed syndrome

  • CHS, see Chediak-Higashi syndrome

  • CHST3-related skeletal dysplasia

  • CHT, see congenital hypothyroidism

  • chylomicron retention disease

  • CID due to DOCK8 deficiency, see autosomal recessive hyper-IgE syndrome

  • CIIP, see intestinal pseudo-obstruction

  • CINCA, see neonatal onset multisystem inflammatory disease

  • CINCA syndrome, see neonatal onset multisystem inflammatory disease

  • CIP, see congenital insensitivity to pain

  • CIPA, see congenital insensitivity to pain with anhidrosis

  • cirrhosis, cryptogenic, see cryptogenic cirrhosis

  • CISS, see cold-induced sweating syndrome

  • CIT, see citrullinemia

  • citrullinemia

  • Citrullinuria, see citrullinemia

  • classic Addison disease, see autoimmune Addison disease

  • classic distal renal tubular acidosis, see SLC4A1-associated distal renal tubular acidosis

  • classic galactosemia, see galactosemia

  • classic Refsum disease, see Refsum disease

  • classical lissencephaly, see isolated lissencephaly sequence

  • classical lissencephaly syndrome, see Miller-Dieker syndrome

  • cleft lip and/or palate with mucous cysts of lower lip, see van der Woude syndrome

  • cleft spine, see spina bifida

  • cleidocranial dysostosis, see cleidocranial dysplasia

  • cleidocranial dysplasia

  • CLN1, see CLN1 disease

  • CLN1 disease

  • CLN10, see CLN10 disease

  • CLN10 disease

  • CLN2 disease

  • CLN3 disease

  • CLN3-related neuronal ceroid-lipofuscinosis, see CLN3 disease

  • CLN4 disease

  • CLN4B, see CLN4 disease

  • CLN5 disease

  • CLN6 disease

  • CLN6-related neuronal ceroid lipofuscinosis, see CLN6 disease

  • CLN7, see CLN7 disease

  • CLN7 disease

  • CLN7 disease, late infantile, see CLN7 disease

  • CLN8 disease

  • clonal eosinophilia with chronic myeloproliferative disorder, see PDGFRB-associated chronic eosinophilic leukemia

  • clopidogrel resistance

  • Clouston hidrotic ectodermal dysplasia, see Clouston syndrome

  • Clouston syndrome

  • Clouston's syndrome, see Clouston syndrome

  • CLS, see Coffin-Lowry syndrome

  • CM-AVM, see capillary malformation-arteriovenous malformation syndrome

  • CMAMMA, see combined malonic and methylmalonic aciduria

  • CMD, see craniometaphyseal dysplasia

  • CMD3B, see DMD-associated dilated cardiomyopathy

  • CMDD, see craniometaphyseal dysplasia

  • CMDJ, see craniometaphyseal dysplasia

  • CMDR, see craniometaphyseal dysplasia

  • CML, see chronic myeloid leukemia

  • CMM, see congenital mirror movement disorder

  • CMO deficiency, see corticosterone methyloxidase deficiency

  • CMRD, see chylomicron retention disease

  • CMS, see congenital myasthenic syndrome

  • CMT, see Charcot-Marie-Tooth disease

  • CN-AML, see cytogenetically normal acute myeloid leukemia

  • CNM, see X-linked myotubular myopathy

  • CNM, see centronuclear myopathy

  • CNTF receptor-related disorders, see cold-induced sweating syndrome

  • co-contractive retraction syndrome, see isolated Duane retraction syndrome

  • Coats plus syndrome

  • Cockayne syndrome

  • Cockayne-Pelizaeus-Merzbacher Disease, see Pelizaeus-Merzbacher disease

  • COD-MD syndrome, see Walker-Warburg syndrome

  • Coffin-Lowry syndrome

  • Coffin-Siris syndrome

  • COG5-CDG, see COG5-congenital disorder of glycosylation

  • COG5-congenital disorder of glycosylation

  • cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia, see CHOPS syndrome

  • Cohen syndrome

  • cohesinopathy affecting heart and gut rhythm, see chronic atrial and intestinal dysrhythmia

  • COL4A1-related brain small-vessel disease

  • cold hypersensitivity, see familial cold autoinflammatory syndrome

  • cold-induced sweating syndrome

  • Cole disease

  • colitis gravis, see ulcerative colitis

  • Colitis, Granulomatous, see Crohn disease

  • collagen type VI-related disorders, see collagen VI-related myopathy

  • collagen VI-related myopathies, see collagen VI-related myopathy

  • collagen VI-related myopathy

  • collodion baby, see nonbullous congenital ichthyosiform erythroderma

  • collodion baby, see lamellar ichthyosis

  • collodion baby syndrome, see lamellar ichthyosis

  • coloboma

  • coloboma of optic nerve with renal disease, see renal coloboma syndrome

  • coloboma-ureteral-renal syndrome, see renal coloboma syndrome

  • color blindness, see color vision deficiency

  • color vision defects, see color vision deficiency

  • color vision deficiency

  • ColVI myopathies, see collagen VI-related myopathy

  • combined 17 alpha-hydroxylase/17,20-lyase deficiency, see 17 alpha-hydroxylase/17,20-lyase deficiency

  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, see molybdenum cofactor deficiency

  • combined deficiency of xanthine dehydrogenase and aldehyde oxidase, see hereditary xanthinuria

  • combined immunodeficiency due to DOCK8 deficiency, see autosomal recessive hyper-IgE syndrome

  • combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, see spondyloenchondrodysplasia with immune dysregulation

  • combined malonic and methylmalonic aciduria

  • combined molybdoflavoprotein enzyme deficiency, see molybdenum cofactor deficiency

  • combined oxidative phosphorylation deficiency 12, see leukoencephalopathy with thalamus and brainstem involvement and high lactate

  • combined partial deficiency of 17-hydroxylase and 21-hydroxylase, see cytochrome P450 oxidoreductase deficiency

  • combined pituitary hormone deficiency

  • combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency, see molybdenum cofactor deficiency

  • Comel-Netherton syndrome, see Netherton syndrome

  • common variable hypogammaglobulinemia, see common variable immune deficiency

  • common variable immune deficiency

  • common variable immunodeficiency, see common variable immune deficiency

  • complement 2 deficiency, see complement component 2 deficiency

  • complement component 2 deficiency

  • complement component 3 inactivator deficiency, see complement factor I deficiency

  • complement component 8 deficiency

  • complement factor I deficiency

  • complete HPRT deficiency, see Lesch-Nyhan syndrome

  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency, see Lesch-Nyhan syndrome

  • complete LCAT deficiency

  • complete trisomy 13 syndrome, see trisomy 13

  • complete trisomy 18 syndrome, see trisomy 18

  • complex carbohydrate intolerance, see glucose-galactose malabsorption

  • complex IV deficiency, see cytochrome c oxidase deficiency

  • compression neuropathy, see hereditary neuropathy with liability to pressure palsies

  • cone-rod degeneration, see cone-rod dystrophy

  • cone-rod dystrophy

  • cone-rod retinal dystrophy, see cone-rod dystrophy

  • congenital absence of brain, see anencephaly

  • congenital absence of skin on scalp, see nonsyndromic aplasia cutis congenita

  • congenital absence of the uterus and vagina (CAUV), see Mayer-Rokitansky-Küster-Hauser syndrome

  • Congenital absence of vas deferens, see congenital bilateral absence of the vas deferens

  • congenital adrenal hyperplasia 1, see 21-hydroxylase deficiency

  • congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

  • congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, see 17 alpha-hydroxylase/17,20-lyase deficiency

  • congenital adrenal hyperplasia due to 21 hydroxylase deficiency, see 21-hydroxylase deficiency

  • congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency, see cytochrome P450 oxidoreductase deficiency

  • congenital adrenal hyperplasia type 5, see 17 alpha-hydroxylase/17,20-lyase deficiency

  • congenital afibrinogenemia

  • congenital agammaglobulinemia, see X-linked agammaglobulinemia

  • congenital agranulocytosis, see severe congenital neutropenia

  • 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 with misalignment of pulmonary veins

  • congenital amaurosis of retinal origin, see Leber congenital amaurosis

  • congenital analgesia, see congenital insensitivity to pain

  • congenital aneurysm of ascending aorta, see familial thoracic aortic aneurysm and dissection

  • congenital aniridia, see aniridia

  • Congenital Antithrombin III Deficiency, see hereditary antithrombin deficiency

  • Congenital aplasia of vas deferens, see congenital bilateral absence of the vas deferens

  • Congenital betalipoprotein deficiency syndrome, see abetalipoproteinemia

  • congenital bilateral absence of the vas deferens

  • congenital bilateral absence of vas deferens, see congenital bilateral absence of the vas deferens

  • congenital bile acid synthesis defect type 1

  • congenital bile acid synthesis defect type 2

  • congenital bullous poikiloderma, see Kindler syndrome

  • congenital cataracts, facial dysmorphism, and neuropathy

  • congenital central hypoventilation, see congenital central hypoventilation syndrome

  • congenital central hypoventilation syndrome

  • congenital contractural arachnodactyly

  • congenital deafness with inner ear agenesis, microtia, and microdontia, see congenital deafness with labyrinthine aplasia, microtia, and microdontia

  • congenital deafness with keratopachydermia and constrictions of fingers and toes, see Vohwinkel syndrome

  • congenital deafness with labyrinthine aplasia, microtia, and microdontia

  • congenital defect of folate absorption, see hereditary folate malabsorption

  • congenital defect of the skull and scalp, see nonsyndromic aplasia cutis congenita

  • congenital deficiency of the leptin receptor, see leptin receptor deficiency

  • congenital diaphragmatic defect, see congenital diaphragmatic hernia

  • congenital diaphragmatic hernia

  • congenital disorder of glycosylation type 1G, see ALG12-congenital disorder of glycosylation

  • congenital disorder of glycosylation type 1K, see ALG1-congenital disorder of glycosylation

  • congenital disorder of glycosylation type Ia, see PMM2-congenital disorder of glycosylation

  • congenital disorder of glycosylation type Ic, see ALG6-congenital disorder of glycosylation

  • congenital disorder of glycosylation type Ig, see ALG12-congenital disorder of glycosylation

  • congenital disorder of glycosylation type IIi, see COG5-congenital disorder of glycosylation

  • congenital disorder of glycosylation, type Im, see DOLK-congenital disorder of glycosylation

  • congenital dyserythropoietic anemia

  • congenital dysplastic angiopathy, see Klippel-Trenaunay syndrome

  • congenital dystrophia brevicollis, see Klippel-Feil syndrome

  • congenital ectopia lentis, see isolated ectopia lentis

  • congenital enamel hypoplasia, see amelogenesis imperfecta

  • congenital enteropathy, see microvillus inclusion disease

  • congenital erythrocytosis, see familial erythrocytosis

  • congenital erythroid hypoplastic anemia, see Diamond-Blackfan anemia

  • congenital external ophthalmoplegia, see congenital fibrosis of the extraocular muscles

  • congenital facial diplegia, see Moebius syndrome

  • congenital failure of autonomic control, see congenital central hypoventilation syndrome

  • congenital familial lymphedema, see Milroy disease

  • congenital familial protracted diarrhea with enterocyte brush-border abnormalities, see microvillus inclusion disease

  • congenital fiber-type disproportion

  • congenital fibrose liver, see congenital hepatic fibrosis

  • congenital fibrosis of extraocular muscles, see congenital fibrosis of the extraocular muscles

  • congenital fibrosis of the extraocular muscles

  • congenital fibrosis syndrome, see congenital fibrosis of the extraocular muscles

  • Congenital folate malabsorption, see hereditary folate malabsorption

  • congenital generalized lipodystrophy

  • congenital giant pigmented nevus of skin, see giant congenital melanocytic nevus

  • congenital hemidysplasia with ichthyosiform erythroderma and limb defects

  • congenital hepatic fibrosis

  • congenital hereditary hematuria, see Alport syndrome

  • congenital hereditary stromal dystrophy of the cornea, see congenital stromal corneal dystrophy

  • congenital hyperammonemia, type I, see carbamoyl phosphate synthetase I deficiency

  • congenital hyperinsulinism

  • congenital hypoaldosteronism, see corticosterone methyloxidase deficiency

  • congenital hypoplastic anemia of Blackfan and Diamond, see Diamond-Blackfan anemia

  • congenital hypothyroidism

  • congenital icthyosis mental retardation spasticity syndrome, see Sjögren-Larsson syndrome

  • congenital indifference to pain, see congenital insensitivity to pain

  • congenital insensitivity to pain, see hereditary sensory and autonomic neuropathy type V

  • congenital insensitivity to pain

  • congenital insensitivity to pain with anhidrosis

  • congenital intestinal aganglionosis, see Hirschsprung disease

  • congenital leptin deficiency

  • Congenital Lipomatosis of Pancreas, see Shwachman-Diamond syndrome

  • Congenital lysinuria, see lysinuric protein intolerance

  • congenital megacolon, see Hirschsprung disease

  • congenital melanocytic nevus syndrome, see giant congenital melanocytic nevus

  • congenital mesodermal dysmorphodystrophy, see Weill-Marchesani syndrome

  • congenital methemoglobinemia, see methemoglobinemia, beta-globin type

  • congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency, see autosomal recessive congenital methemoglobinemia

  • congenital microvillous atrophy, see microvillus inclusion disease

  • congenital mirror movement disorder

  • congenital mirror movements, see congenital mirror movement disorder

  • congenital motor nystagmus, see X-linked infantile nystagmus

  • congenital myasthenia, see congenital myasthenic syndrome

  • congenital myasthenic syndrome

  • congenital myasthenic syndromes, see congenital myasthenic syndrome

  • congenital myopathy with caps, see cap myopathy

  • congenital myopathy with excess of thin filaments, see actin-accumulation myopathy

  • congenital myopathy with fiber type disproportion, see congenital fiber-type disproportion

  • Congenital myotonia, see myotonia congenita

  • congenital myxedema, see congenital hypothyroidism

  • congenital NADH-methemoglobin reductase deficiency, see autosomal recessive congenital methemoglobinemia

  • congenital nephrogenic diabetes insipidus, see nephrogenic diabetes insipidus

  • congenital nephrotic syndrome

  • congenital neuronal ceroid lipofuscinosis, see CLN10 disease

  • congenital neutropenia, see severe congenital neutropenia

  • congenital nonbullous ichthyosiform erythroderma, see nonbullous congenital ichthyosiform erythroderma

  • congenital ocular coloboma, see coloboma

  • congenital ophthalmoplegia and facial paresis, see Moebius syndrome

  • congenital osteopetrosis, see osteopetrosis

  • congenital oxaluria, see primary hyperoxaluria

  • congenital pachyonychia, see pachyonychia congenita

  • congenital pain indifference, see congenital insensitivity to pain

  • congenital plasminogen deficiency

  • congenital poikiloderma, see Rothmund-Thomson syndrome

  • congenital pontocerebellar hypoplasia, see pontocerebellar hypoplasia

  • congenital prekallikrein deficiency, see prekallikrein deficiency

  • congenital progressive oculo-acoustico-cerebral degeneration, see Norrie disease

  • congenital pure red cell anemia, see Diamond-Blackfan anemia

  • congenital pure red cell aplasia, see Diamond-Blackfan anemia

  • congenital reticular ichthyosiform erythroderma, see ichthyosis with confetti

  • congenital retinal blindness, see Leber congenital amaurosis

  • congenital scalp defects with distal limb reduction anomalies, see Adams-Oliver syndrome

  • congenital scoliosis with unilateral unsegmented bar, see spondylocarpotarsal synostosis syndrome

  • congenital sensory neuropathy, see hereditary sensory and autonomic neuropathy type II

  • congenital sensory neuropathy with selective loss of small myelinated fibers, see hereditary sensory and autonomic neuropathy type V

  • congenital short bowel syndrome, see intestinal pseudo-obstruction

  • Congenital sideroblastic anaemia, see X-linked sideroblastic anemia

  • congenital spherocytic hemolytic anemia, see hereditary spherocytosis

  • congenital spherocytosis, see hereditary spherocytosis

  • congenital stiff-man syndrome, see hereditary hyperekplexia

  • congenital stiff-person syndrome, see hereditary hyperekplexia

  • congenital stromal corneal dystrophy

  • congenital stromal dystrophy of the cornea, see congenital stromal corneal dystrophy

  • congenital Stuart factor deficiency, see factor X deficiency

  • congenital sucrase-isomaltase deficiency

  • congenital sucrose intolerance, see congenital sucrase-isomaltase deficiency

  • congenital sucrose-isomaltose malabsorption, see congenital sucrase-isomaltase deficiency

  • congenital synspondylism, see spondylocarpotarsal synostosis syndrome

  • congenital telangiectatic erythema, see Bloom syndrome

  • congenital ulcer of the newborn, see nonsyndromic aplasia cutis congenita

  • congenital valvular heart disease, see X-linked cardiac valvular dysplasia

  • congenital X-linked retinoschisis, see X-linked juvenile retinoschisis

  • congestive cardiomyopathy, see familial dilated cardiomyopathy

  • conorenal dysplasia, see Mainzer-Saldino syndrome

  • conorenal syndrome, see Mainzer-Saldino syndrome

  • conotruncal anomaly face syndrome (CTAF), see 22q11.2 deletion syndrome

  • Conradi-Hünermann Syndrome, see X-linked chondrodysplasia punctata 2

  • Conradi-Hünermann-Happle syndrome, see X-linked chondrodysplasia punctata 2

  • constitutional liver dysfunction, see Gilbert syndrome

  • contraction of palmar fascia, see Dupuytren contracture

  • contractural arachnodactyly, congenital, see congenital contractural arachnodactyly

  • copper storage disease, see Wilson disease

  • Copper transport disease, see Menkes syndrome

  • CORD, see cone-rod dystrophy

  • core binding factor acute myeloid leukemia

  • core-binding factor AML, see core binding factor acute myeloid leukemia

  • Cori disease, see glycogen storage disease type III

  • Cori's disease, see glycogen storage disease type III

  • corneal dystrophy, congenital stromal, see congenital stromal corneal dystrophy

  • corneal dystrophy, juvenile epithelial of Meesmann, see Meesmann corneal dystrophy

  • corneal dystrophy, Meesmann epithelial, see Meesmann corneal dystrophy

  • Cornelia de Lange syndrome

  • CORS, see Joubert syndrome

  • corticosteroid-binding globulin deficiency

  • corticosterone 18-monooxygenase deficiency, see corticosterone methyloxidase deficiency

  • corticosterone methyl oxidase deficiency, see corticosterone methyloxidase deficiency

  • corticosterone methyloxidase deficiency

  • corticotropin-independent macronodular adrenal hyperplasia, see primary macronodular adrenal hyperplasia

  • Costa de Morte ataxia, see spinocerebellar ataxia type 36

  • Costeff optic atrophy syndrome, see Costeff syndrome

  • Costeff syndrome

  • Costello syndrome

  • coumadin sensitivity, see warfarin sensitivity

  • coumarin resistance, see warfarin resistance

  • Cowden disease, see Cowden syndrome

  • Cowden syndrome

  • Cowden's disease, see Cowden syndrome

  • Cowden's syndrome, see Cowden syndrome

  • COX deficiency, see cytochrome c oxidase deficiency

  • COXPD12, see leukoencephalopathy with thalamus and brainstem involvement and high lactate

  • CPEO, see progressive external ophthalmoplegia

  • CPHD, see combined pituitary hormone deficiency

  • CPP, see central precocious puberty

  • CPT 1A deficiency, see carnitine palmitoyltransferase I deficiency

  • CPT deficiency, hepatic, type I, see carnitine palmitoyltransferase I deficiency

  • CPT I deficiency, see carnitine palmitoyltransferase I deficiency

  • CPT II deficiency, see carnitine palmitoyltransferase II deficiency

  • CPT2 deficiency, see carnitine palmitoyltransferase II deficiency

  • CPVT, see catecholaminergic polymorphic ventricular tachycardia

  • craniocarpotarsal dysplasia, see Freeman-Sheldon syndrome

  • craniocarpotarsal dystrophy, see Freeman-Sheldon syndrome

  • cranioectodermal dysplasia

  • Craniofacial dysarthrosis, see Crouzon syndrome

  • Craniofacial Dysostosis, see Crouzon syndrome

  • Craniofacial dysostosis syndrome, see Crouzon syndrome

  • Craniofacial dysostosis, type 1; CFD1, see Crouzon syndrome

  • craniofacial microsomia

  • craniofacial-deafness-hand syndrome

  • Craniofacial-skeletal-dermatologic dysplasia, see Pfeiffer syndrome

  • craniofacial-ulnar-renal syndrome, see 3MC syndrome

  • craniometaphyseal dysplasia

  • Craniometaphyseal dysplasia, Jackson type, see craniometaphyseal dysplasia

  • cranioorodigital syndrome, see otopalatodigital syndrome type 2

  • cranioorodigital syndrome, see otopalatodigital syndrome type 1

  • cranioskeletal dysplasia with acro-osteolysis, see Hajdu-Cheney syndrome

  • craniosynostosis with lid anomalies, see 3MC syndrome

  • craniosynostosis with radial defects, see Baller-Gerold syndrome

  • craniosynostosis-radial aplasia syndrome, see Baller-Gerold syndrome

  • cranium bifidum, see enlarged parietal foramina

  • cranium bifidum occultum, see enlarged parietal foramina

  • CRASH syndrome, see L1 syndrome

  • CRB, see Leber congenital amaurosis

  • CRD, see Refsum disease

  • CRD, see cone-rod dystrophy

  • creatine deficiency syndrome due to AGAT deficiency, see arginine:glycine amidinotransferase deficiency

  • creatine deficiency syndrome due to GAMT deficiency, see guanidinoacetate methyltransferase deficiency

  • creatine transporter defect, see X-linked creatine deficiency

  • creatine transporter deficiency, see X-linked creatine deficiency

  • Cree encephalitis, see Aicardi-Goutieres syndrome

  • Cree leukoencephalopathy, see leukoencephalopathy with vanishing white matter

  • cretinism, see congenital hypothyroidism

  • cri-du-chat syndrome

  • CRIE, see ichthyosis with confetti

  • Crigler Najjar syndrome, see Crigler-Najjar syndrome

  • Crigler-Najjar syndrome

  • Crisponi syndrome, see cold-induced sweating syndrome

  • critical congenital heart defects, see critical congenital heart disease

  • critical congenital heart disease

  • CRMCC, see Coats plus syndrome

  • Crohn disease

  • Crohn's Disease, see Crohn disease

  • Crohn's enteritis, see Crohn disease

  • Cross-McKusick syndrome, see Troyer syndrome

  • Crouzon craniofacial dysostosis, see Crouzon syndrome

  • Crouzon syndrome

  • Crouzon syndrome with acanthosis nigricans, see Crouzonodermoskeletal syndrome

  • Crouzon's Disease, see Crouzon syndrome

  • Crouzonodermoskeletal syndrome

  • Crouzons Disease, see Crouzon syndrome

  • cryptogenic cirrhosis

  • cryptogenic fibrosing alveolitis, see idiopathic pulmonary fibrosis

  • cryptophthalmos syndactyly syndrome, see Fraser syndrome

  • cryptophthalmos syndrome, see Fraser syndrome

  • cryptophthalmos with other malformations, see Fraser syndrome

  • CS, see Cowden syndrome

  • CS, see Cockayne syndrome

  • CSCD, see congenital stromal corneal dystrophy

  • CSID, see congenital sucrase-isomaltase deficiency

  • CSNBAD, see autosomal dominant congenital stationary night blindness

  • CSNU, see cystinuria

  • CST syndrome, see hypohidrotic ectodermal dysplasia

  • CTX, see cerebrotendinous xanthomatosis

  • CUD, see primary carnitine deficiency

  • Curry-Hall syndrome, see Weyers acrofacial dysostosis

  • Cushing disease

  • cutaneous ossification, see progressive osseous heteroplasia

  • cutis gyrata syndrome of Beare and Stevenson, see Beare-Stevenson cutis gyrata syndrome

  • cutis gyrata syndrome of Beare-Stevenson, see Beare-Stevenson cutis gyrata syndrome

  • cutis laxa

  • CVD1, see X-linked cardiac valvular dysplasia

  • CVID, see common variable immune deficiency

  • CVS, see cyclic vomiting syndrome

  • cyclic hematopoesis, see cyclic neutropenia

  • cyclic leucopenia, see cyclic neutropenia

  • cyclic neutropenia

  • cyclic vomiting syndrome

  • cyclical vomiting, see cyclic vomiting syndrome

  • cyclical vomiting syndrome, see cyclic vomiting syndrome

  • cylindromatosis, familial, see familial cylindromatosis

  • CYP21 deficiency, see 21-hydroxylase deficiency

  • CYP2C19-related poor drug metabolism, see clopidogrel resistance

  • cystathionine beta synthase deficiency, see homocystinuria

  • cystic fibrosis

  • cystic fibrosis of pancreas, see cystic fibrosis

  • cystic leukoencephalopathy without megalencephaly, see RNAse T2-deficient leukoencephalopathy

  • cystine storage disease, see cystinosis

  • cystinosis

  • cystinuria

  • cytochrome b5 reductase deficiency, see autosomal recessive congenital methemoglobinemia

  • cytochrome c oxidase deficiency

  • cytochrome P450 oxidoreductase deficiency

  • cytochrome-c oxidase deficiency, see cytochrome c oxidase deficiency

  • cytogenetically normal acute myeloid leukemia

  • Czech dysplasia

  • Czech dysplasia, metatarsal type, see Czech dysplasia

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