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Rare conditions starting with C
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842 conditions starting with C
- C syndrome
- C11orf73-related autosomal recessive hypomyelinating leukodystrophy
- C1Q deficiency
- C1q nephropathy
- CADDS
- Cafe au lait spots, multiple
- Calabro syndrome
- Calcaneonavicular coalition
- Calciphylaxis
- Calvarial doughnut lesions-bone fragility syndrome
- CAMOS syndrome
- Campomelia, Cumming type
- Camptobrachydactyly
- Camptodactyly of fingers
- Camptodactyly syndrome, Guadalajara type 1
- Camptodactyly syndrome, Guadalajara type 2
- Camptodactyly syndrome, Guadalajara type 3
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- Camptodactyly-tall stature-scoliosis-hearing loss syndrome
- Camptodactyly-taurinuria syndrome
- Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
- Camptomelic dysplasia
- Camptomelic syndrome, long-limb type
- Cancrum oris
- CANOMAD syndrome
- Cap myopathy
- Capillary leak syndrome
- Capillary malformation-arteriovenous malformation 1
- Capillary malformation-arteriovenous malformation syndrome
- CARASIL syndrome
- Carcinoid syndrome
- Carcinoid tumor
- Carcinoma of esophagus
- Carcinoma of male breast
- Carcinosarcoma
- Carcinosarcoma of the corpus uteri
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Cardiac anomalies-heterotaxy syndrome
- Cardiac arrhythmia, ankyrin-B-related
- Cardiac diverticulum
- Cardiac valvular dysplasia, X-linked
- Cardio-facio-cutaneous syndrome
- Cardiocranial syndrome, Pfeiffer type
- Cardiomyopathy due to anthracyclines
- Cardiomyopathy-cataract-hip spine disease syndrome
- Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Cardiospondylocarpofacial syndrome
- Carney complex
- Carney complex - trismus - pseudocamptodactyly syndrome
- Carney triad
- Carney-Stratakis syndrome
- Carnitine acylcarnitine translocase deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnosinemia
- Caroli disease
- Caroli syndrome
- Carotid body paraganglioma
- Carpenter syndrome
- Carpotarsal osteochondromatosis
- Cartilage cancer
- Castleman disease
- Cat eye syndrome
- Cat scratch disease
- Cataract - congenital heart disease - neural tube defect syndrome
- Cataract - microcornea syndrome
- Cataract 11 multiple types
- Cataract 18
- Cataract 31 multiple types
- Cataract 32
- Cataract 35
- Cataract 4 multiple types
- Cataract 40
- Cataract 46 juvenile-onset
- Cataract 6 multiple types
- Cataract 8 multiple types
- Cataract-aberrant oral frenula-growth delay syndrome
- Cataract-ataxia-deafness syndrome
- Cataract-deafness-hypogonadism syndrome
- Cataract-glaucoma syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cataract-hypertrichosis-intellectual disability syndrome
- Cataract-nephropathy-encephalopathy syndrome
- Catastrophic antiphospholipid syndrome
- Catecholaminergic polymorphic ventricular tachycardia
- Catel-Manzke syndrome
- Cathepsin a-related arteriopathy-strokes-leukoencephalopathy
- Caudal appendage-deafness syndrome
- Caudal duplication
- Caudal regression sequence
- Cavernous lymphangioma
- Cavitary myiasis
- Cayman type cerebellar ataxia
- CBL-related disorder
- CCDC115-CDG
- CD4+/CD56+ hematodermic neoplasm
- CDKL5 disorder
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
- CEDNIK syndrome
- Celiac disease-epilepsy-cerebral calcification syndrome
- Celiac trunk compression syndrome
- CELSR1-related late-onset primary lymphedema
- Cenani-Lenz syndactyly syndrome
- Central areolar choroidal dystrophy
- Central centrifugal cicatricial alopecia
- Central cloudy dystrophy of Francois
- Central core myopathy
- Central diabetes insipidus
- Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
- Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
- Central neurocytoma
- Central polydactyly of fingers
- Central precocious puberty
- Central serous chorioretinopathy
- Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
- Centronuclear myopathy
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Cerebellar ataxia-ectodermal dysplasia syndrome
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar dysfunction with variable cognitive and behavioral abnormalities
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Cerebellar liponeurocytoma
- Cerebellar-facial-dental syndrome
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Cerebral arteriovenous malformation
- Cerebral folate transport deficiency
- Cerebral gigantism-jaw cysts syndrome
- Cerebral sarcoma
- Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
- Cerebro-costo-mandibular syndrome
- Cerebrooculonasal syndrome
- Cernunnos-XLF deficiency
- Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- Ceroid lipofuscinosis, neuronal, 6A
- Cervical hypertrichosis-peripheral neuropathy syndrome
- Cervical intraepithelial neoplasia
- Chancroid
- Chandler syndrome
- Channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Chapare hemorrhagic fever
- Char syndrome
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease axonal type 2C
- Charcot-Marie-Tooth disease axonal type 2F
- Charcot-Marie-Tooth disease axonal type 2H
- Charcot-Marie-Tooth disease axonal type 2K
- Charcot-Marie-Tooth disease axonal type 2L
- Charcot-Marie-Tooth disease axonal type 2N
- Charcot-Marie-Tooth disease axonal type 2O
- Charcot-Marie-Tooth disease axonal type 2P
- Charcot-Marie-Tooth disease axonal type 2Q
- Charcot-Marie-Tooth disease axonal type 2S
- Charcot-Marie-Tooth disease axonal type 2T
- Charcot-Marie-Tooth disease axonal type 2U
- Charcot-Marie-Tooth disease axonal type 2V
- Charcot-Marie-Tooth disease axonal type 2X
- Charcot-Marie-Tooth disease axonal type 2Z
- Charcot-Marie-Tooth disease dominant intermediate B
- Charcot-Marie-Tooth disease dominant intermediate C
- Charcot-Marie-Tooth disease dominant intermediate D
- Charcot-Marie-Tooth disease dominant intermediate E
- Charcot-Marie-Tooth disease dominant intermediate F
- Charcot-Marie-Tooth disease recessive intermediate A
- Charcot-Marie-Tooth disease recessive intermediate B
- Charcot-Marie-Tooth disease recessive intermediate C
- Charcot-Marie-Tooth disease recessive intermediate D
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease type 1C
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 2
- Charcot-Marie-Tooth disease type 2A1
- Charcot-Marie-Tooth disease type 2A2
- Charcot-Marie-Tooth disease type 2B
- Charcot-Marie-Tooth disease type 2B5
- Charcot-Marie-Tooth disease type 2D
- Charcot-Marie-Tooth disease type 2E
- Charcot-Marie-Tooth disease type 2I
- Charcot-Marie-Tooth disease type 2J
- Charcot-Marie-Tooth disease type 2R
- Charcot-Marie-Tooth disease type 2T
- Charcot-Marie-Tooth disease type 2Y
- Charcot-Marie-Tooth disease type 4
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B1
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4B3
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4D
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4F
- Charcot-Marie-Tooth disease type 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Charcot-Marie-Tooth disease type 4K
- Charcot-Marie-Tooth disease type 5
- Charcot-Marie-Tooth disease type X
- Charcot-Marie-Tooth disease X-linked dominant 1
- Charcot-Marie-Tooth disease X-linked dominant 6
- Charcot-Marie-Tooth disease X-linked recessive 2
- Charcot-Marie-Tooth disease X-linked recessive 3
- Charcot-Marie-Tooth disease X-linked recessive 4
- Charcot-Marie-Tooth disease X-linked recessive 5
- Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
- Charcot-Marie-tooth disease, axonal, type 2DD
- Charcot-Marie-Tooth Disease, axonal, type 2GG
- Charcot-Marie-Tooth disease, demyelinating, type 1G
- Charcot-Marie-Tooth disease, type I
- Charcot-Marie-Tooth disease, type IA
- CHARGE syndrome
- Charlevoix-Saguenay spastic ataxia
- Charlie M syndrome
- Chédiak-Higashi syndrome
- Cheilitis glandularis
- CHEK2-related cancer predisposition
- Chiari type I malformation
- Chiari type II malformation
- Chikungunya fever
- Chilblain lupus
- Child syndrome
- Childhood absence epilepsy
- Childhood acute lymphoblastic leukemia
- Childhood apraxia of speech
- Childhood brain stem glioma
- Childhood carcinoid tumor
- Childhood central nervous system germ cell tumor
- Childhood cerebellar astrocytic neoplasm
- Childhood cerebral astrocytoma
- Childhood disintegrative disorder
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- Childhood ependymoma
- Childhood germ cell brain tumor
- Childhood leukemia
- Childhood malignant melanoma
- Childhood medulloblastoma
- Childhood onset GLUT1 deficiency syndrome 2
- Childhood optic nerve glioma
- Childhood type dermatomyositis
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
- Childhood-onset benign chorea with striatal involvement
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Childhood-onset nemaline myopathy
- Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
- Childhood-onset schizophrenia
- CHIME syndrome
- Choanal atresia with radial ray hypoplasia
- Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- Cholangiocarcinoma
- Cholera
- Cholestanol storage disease
- Cholestasis of pregnancy
- Cholestasis-edema syndrome, Norwegian type
- Cholestasis-pigmentary retinopathy-cleft palate syndrome
- Cholestasis, progressive familial intrahepatic, 4
- Cholesteryl ester storage disease
- Chondroblastoma
- Chondrocalcinosis 1
- Chondrocalcinosis 2
- Chondrodysplasia Blomstrand type
- Chondrodysplasia calcificans Metaphysealis
- Chondrodysplasia punctata
- Chondrodysplasia punctata 2 X-linked dominant
- Chondrodysplasia punctata, MT type
- Chondrodysplasia punctata, Toriello type
- Chondrodysplasia with joint dislocations, gPAPP type
- Chondrodysplasia-pseudohermaphroditism syndrome
- Chondroectodermal dysplasia with night blindness
- Chondrosarcoma
- Chordoma
- Chorea-acanthocytosis
- Chorea, benign familial
- Chorea, remitting, with nystagmus and cataract
- Choriocarcinoma
- Chorioretinitis
- Choroid plexus carcinoma
- Choroid plexus papilloma
- Choroidal atrophy-alopecia syndrome
- Choroideremia
- Choroideremia-deafness-obesity syndrome
- Choroiditis
- Christianson syndrome
- Chromomycosis
- Chromophobe renal cell carcinoma
- Chromosome 1, uniparental disomy 1q12 q21
- Chromosome 10q23 deletion syndrome
- Chromosome 13q14 deletion syndrome
- Chromosome 14q11-q22 deletion syndrome
- Chromosome 15q11.2 deletion syndrome
- Chromosome 15q13.3 microdeletion syndrome
- Chromosome 15q24 deletion syndrome
- Chromosome 15q25 deletion syndrome
- Chromosome 15q26-qter deletion syndrome
- Chromosome 16 trisomy
- Chromosome 16p11.2 duplication syndrome
- Chromosome 16p12.2-p11.2 deletion syndrome
- Chromosome 16p13.3 duplication syndrome
- Chromosome 17p13.3 duplication syndrome
- Chromosome 17q11.2 deletion syndrome, 1.4Mb
- Chromosome 17q12 deletion syndrome
- Chromosome 17q12 duplication syndrome
- Chromosome 17q21.31 duplication syndrome
- Chromosome 17q23.1-q23.2 deletion syndrome
- Chromosome 18 mosaic monosomy
- Chromosome 19p13.13 deletion syndrome
- Chromosome 19q13.11 deletion syndrome
- Chromosome 1p32-p31 deletion syndrome
- Chromosome 1p36 deletion syndrome
- Chromosome 1q deletion
- Chromosome 1q21.1 deletion syndrome
- Chromosome 1q21.1 duplication syndrome
- Chromosome 1q41-q42 deletion syndrome
- Chromosome 22q11.2 deletion syndrome, distal
- Chromosome 22q11.2 microduplication syndrome
- Chromosome 2p16.1-p15 deletion syndrome
- Chromosome 2q32-q33 deletion syndrome
- Chromosome 2q37 deletion syndrome
- Chromosome 3q13.31 deletion syndrome
- Chromosome 3q29 microdeletion syndrome
- Chromosome 3q29 microduplication syndrome
- Chromosome 4q21 deletion syndrome
- Chromosome 5p13 duplication syndrome
- Chromosome 5q12 deletion syndrome
- Chromosome 6pter-p24 deletion syndrome
- Chromosome 6q24-q25 deletion syndrome
- Chromosome 8-derived supernumerary ring/marker
- Chromosome 8Q12.1-q21.2 deletion syndrome
- Chromosome 8q21.11 deletion syndrome
- Chromosome 9p deletion syndrome
- Chromosome Xp11.23-p11.22 duplication syndrome
- Chromosome Xp21 deletion syndrome
- Chromosome Xq28 duplication syndrome
- Chronic atrial and intestinal dysrhythmia
- Chronic beryllium disease
- Chronic bilirubin encephalopathy
- Chronic diarrhea due to glucoamylase deficiency
- Chronic diarrhea with villous atrophy
- Chronic enteropathy associated with SLCO2A1 gene
- Chronic graft versus host disease
- Chronic granulomatous disease
- Chronic hiccup
- Chronic infantile neurological, cutaneous and articular syndrome
- Chronic inflammatory demyelinating polyradiculoneuropathy
- Chronic intestinal pseudoobstruction
- Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
- Chronic mucocutaneous candidiasis
- Chronic multifocal osteomyelitis
- Chronic myelogenous leukemia, BCR-ABL1 positive
- Chronic myelomonocytic leukemia
- Chronic neutrophilic leukemia
- Chronic respiratory distress with surfactant metabolism deficiency
- Chronic thromboembolic pulmonary hypertension
- Chudley-McCullough syndrome
- Chuvash polycythemia
- Chylomicron retention disease
- Chylous ascites
- CIDEC-related familial partial lipodystrophy
- Ciliary dyskinesia with transposition of ciliary microtubules
- Citrin deficiency
- Citrullinemia
- Citrullinemia type I
- Citrullinemia type II
- CK syndrome
- CLAPO syndrome
- Clark-Baraitser syndrome
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Classic homocystinuria
- Classic lissencephaly
- Classic multiminicore myopathy
- Clear cell carcinoma of kidney
- Clear cell sarcoma of kidney
- Cleft lip and alveolus
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
- Cleft lip-retinopathy syndrome
- Cleft lip/palate
- Cleft lip/palate-deafness-sacral lipoma syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Cleft palate with or without ankyloglossia, X-linked
- Cleft palate-large ears-small head syndrome
- Cleft palate-lateral synechia syndrome
- Cleft palate-short stature-vertebral anomalies syndrome
- Cleft palate-stapes fixation-oligodontia syndrome
- Cleft upper lip
- Cleidocranial dysostosis
- Cleidocranial dysplasia, recessive form
- Cleidorhizomelic syndrome
- Cloacal exstrophy
- Cloverleaf skull syndrome
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- CLOVES syndrome
- COACH syndrome
- Coarctation of aorta
- Coats disease
- Coats plus syndrome
- Cobb syndrome
- Cobblestone lissencephaly
- Cobblestone lissencephaly without muscular or ocular involvement
- Coccidioidomycosis
- Cochleosaccular degeneration-cataract syndrome
- Cockayne syndrome
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Cockayne syndrome type 3
- Cocoon syndrome
- CODAS syndrome
- Coenzyme Q10 deficiency
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- Coffin-Siris syndrome 1
- COFS syndrome
- COG1 congenital disorder of glycosylation
- COG4-congenital disorder of glycosylation
- COG5-congenital disorder of glycosylation
- COG6-congenital disorder of glycosylation
- COG7 congenital disorder of glycosylation
- COG8-congenital disorder of glycosylation
- Cogan syndrome
- Cogan-Reese syndrome
- Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
- Cohen syndrome
- Cohen-Gibson syndrome
- Cold agglutinin disease
- Cold-induced sweating syndrome
- Cold-induced sweating syndrome 1
- Cole-Carpenter syndrome
- Collagen 6-related myopathy
- Collecting duct carcinoma
- Coloboma of choroid and retina
- Coloboma of macula
- Coloboma of macula-brachydactyly type B syndrome
- Coloboma of optic nerve
- Colobomatous macrophthalmia-microcornea syndrome
- Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome
- Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
- Colonic pseudo-obstruction
- Colorado tick fever
- Combined deficiency of factor V and factor VIII
- Combined deficiency of sialidase AND beta galactosidase
- Combined immunodeficiency due to CD3gamma deficiency
- Combined immunodeficiency due to CRAC channel dysfunction
- Combined immunodeficiency due to CTPS1 deficiency
- Combined immunodeficiency due to DOCK8 deficiency
- Combined immunodeficiency due to GINS1 deficiency
- Combined immunodeficiency due to LRBA deficiency
- Combined immunodeficiency due to MALT1 deficiency
- Combined immunodeficiency due to moesin deficiency
- Combined immunodeficiency due to ORAI1 deficiency
- Combined immunodeficiency due to OX40 deficiency
- Combined immunodeficiency due to partial RAG1 deficiency
- Combined immunodeficiency due to STIM1 deficiency
- Combined immunodeficiency due to STK4 deficiency
- Combined immunodeficiency due to ZAP70 deficiency
- Combined immunodeficiency with faciooculoskeletal anomalies
- Combined immunodeficiency with skin granulomas
- Combined malonic and methylmalonic acidemia
- Combined molybdoflavoprotein enzyme deficiency
- Combined oxidative phosphorylation defect type 11
- Combined oxidative phosphorylation defect type 13
- Combined oxidative phosphorylation defect type 14
- Combined oxidative phosphorylation defect type 15
- Combined oxidative phosphorylation defect type 17
- Combined oxidative phosphorylation defect type 2
- Combined oxidative phosphorylation defect type 20
- Combined oxidative phosphorylation defect type 21
- Combined oxidative phosphorylation defect type 23
- Combined oxidative phosphorylation defect type 24
- Combined oxidative phosphorylation defect type 25
- Combined oxidative phosphorylation defect type 26
- Combined oxidative phosphorylation defect type 27
- Combined oxidative phosphorylation defect type 30
- Combined oxidative phosphorylation defect type 4
- Combined oxidative phosphorylation defect type 7
- Combined oxidative phosphorylation defect type 8
- Combined oxidative phosphorylation defect type 9
- Combined oxidative phosphorylation deficiency
- Combined oxidative phosphorylation deficiency 28
- Combined oxidative phosphorylation deficiency 29
- Combined oxidative phosphorylation deficiency 34
- Combined oxidative phosphorylation deficiency 40
- Combined pancreatic lipase-colipase deficiency
- Combined pituitary hormone deficiencies, genetic form
- Combined PSAP deficiency
- Commissural facial cleft
- Compartment syndrome
- Complement 3 glomerulopathy
- Complement component 2 deficiency
- Complement component 3 deficiency
- Complement component 5 deficiency
- Complement component deficiency
- Complement receptor deficiency
- Complete androgen insensitivity syndrome
- Complete atrioventricular canal
- Complete trisomy 13 syndrome
- Complete trisomy 20 syndrome
- Complex cortical dysplasia with other brain malformations 1
- Complex cortical dysplasia with other brain malformations 7
- Complex lethal osteochondrodysplasia
- Complex neurodevelopmental disorder
- Complex regional pain syndrome
- Compton-North congenital myopathy
- Conductive deafness-malformed external ear syndrome
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Cone dystrophy
- Cone dystrophy with supernormal rod response
- Cone dystrophy, X-linked, with tapetal-like sheen
- Cone monochromatism
- Cone-rod dystrophy
- Cone-rod dystrophy 1
- Cone-rod dystrophy 2
- Cone-rod dystrophy 3
- Cone-rod dystrophy 5
- Cone-rod dystrophy 6
- Congenital abducens nerve palsy
- Congenital absence of both forearm and hand
- Congenital absence of both lower leg and foot
- Congenital absence of germinal epithelium of testes
- Congenital absence of salivary gland
- Congenital absence of thigh and lower leg with foot present
- Congenital absence of upper arm and forearm with hand present
- Congenital acardia
- Congenital achiasma
- Congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital adrenal hypoplasia, X-linked
- Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
- Congenital afibrinogenemia
- Congenital amegakaryocytic thrombocytopenia
- Congenital amegakaryocytic thrombocytopenia 1
- Congenital analbuminemia
- Congenital anosmia
- Congenital aortopulmonary window
- Congenital atresia of colon
- Congenital autosomal recessive small-platelet thrombocytopenia
- Congenital axonal neuropathy with encephalopathy
- Congenital bilateral absence of vas deferens
- Congenital bilateral perisylvian syndrome
- Congenital bile acid synthesis defect 1
- Congenital bile acid synthesis defect 2
- Congenital bile acid synthesis defect 3
- Congenital bile acid synthesis defect 4
- Congenital blue dot cataract
- Congenital bowing of long bones
- Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
- Congenital brain dysgenesis due to glutamine synthetase deficiency
- Congenital bronchobiliary fistula
- Congenital cataract-ichthyosis syndrome
- Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Congenital central hypothyroidism
- Congenital cerebellar ataxia due to RNU12 mutation
- Congenital chylothorax
- Congenital contractural arachnodactyly
- Congenital cystic eye
- Congenital defect of folate absorption
- Congenital diaphragmatic hernia
- Congenital diarrhea 5 with tufting enteropathy
- Congenital diarrhea 6
- Congenital diarrhea 7 with exudative enteropathy
- Congenital disorder of deglycosylation 1
- Congenital disorder of glycosylation
- Congenital disorder of glycosylation type 1E
- Congenital disorder of glycosylation type Ir
- Congenital disorder of glycosylation, type IIq
- Congenital dyserythropoietic anemia
- Congenital dyserythropoietic anemia type 4
- Congenital dyserythropoietic anemia, type I
- Congenital dyserythropoietic anemia, type II
- Congenital dyserythropoietic anemia, type III
- Congenital ectropion uveae
- Congenital elbow dislocation
- Congenital elevation of scapula
- Congenital enterocyte heparan sulfate deficiency
- Congenital enterovirus infection
- Congenital Epstein-Barr virus infection
- Congenital esophageal diverticulum
- Congenital eyelid retraction
- Congenital factor V deficiency
- Congenital factor VII deficiency
- Congenital fibrosis of extraocular muscles
- Congenital generalized hypercontractile muscle stiffness syndrome
- Congenital generalized lipodystrophy
- Congenital generalized lipodystrophy type 1
- Congenital generalized lipodystrophy type 3
- Congenital generalized lipodystrophy type 4
- Congenital glucose-galactose malabsorption
- Congenital heart block
- Congenital heart defect-round face-developmental delay syndrome
- Congenital hepatic fibrosis
- Congenital hereditary endothelial dystrophy of cornea
- Congenital hereditary endothelial dystrophy type I
- Congenital hereditary facial paralysis-variable hearing loss syndrome
- Congenital herpes simplex virus infection
- Congenital herpes virus infection
- Congenital Horner syndrome
- Congenital hydrocephalus
- Congenital hyperammonemia, type I
- Congenital hypothalamic hamartoma syndrome
- Congenital hypothyroidism
- Congenital hypotrichosis with juvenile macular dystrophy
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- Congenital ichthyosis-microcephalus-tetraplegia syndrome
- Congenital insensitivity to pain with severe intellectual disability
- Congenital insensitivity to pain-hypohidrosis syndrome
- Congenital isolated adrenocorticotropic hormone deficiency
- Congenital isolated hyperinsulinism
- Congenital knee dislocation
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- Congenital lactase deficiency
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Congenital laryngeal abductor palsy
- Congenital laryngeal palsy
- Congenital laryngeal web
- Congenital laryngomalacia
- Congenital lethal erythroderma
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Congenital livedo reticularis
- Congenital lobar emphysema
- Congenital long QT syndrome
- Congenital macroglossia
- Congenital malabsorptive diarrhea 4
- Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
- Congenital mesoblastic nephroma
- Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- Congenital microvillous atrophy
- Congenital miosis
- Congenital mitral stenosis
- Congenital multicore myopathy with external ophthalmoplegia
- Congenital muscular dystrophy
- Congenital muscular dystrophy 1B
- Congenital muscular dystrophy due to integrin alpha-7 deficiency
- Congenital muscular dystrophy due to LMNA mutation
- Congenital muscular dystrophy with hyperlaxity
- Congenital muscular dystrophy with intellectual disability
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
- Congenital myasthenic syndrome
- Congenital myasthenic syndrome 2A
- Congenital myasthenic syndrome 4C
- Congenital myopathy
- Congenital myopathy with fiber type disproportion
- Congenital myopathy with internal nuclei and atypical cores
- Congenital myopathy with myasthenic-like onset
- Congenital myopathy with reduced type 2 muscle fibers
- Congenital myopathy, Paradas type
- Congenital myotonic dystrophy
- Congenital neuronal ceroid lipofuscinosis
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome
- Congenital nonbullous ichthyosiform erythroderma
- Congenital nonprogressive myopathy with Moebius and Robin sequences
- Congenital oculomotor nerve palsy
- Congenital omphalocele
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- Congenital patella dislocation
- Congenital plasminogen activator inhibitor type 1 deficiency
- Congenital pontocerebellar hypoplasia type 1
- Congenital posterior urethral valve
- Congenital primary aphakia
- Congenital primary lymphedema of Gordon
- Congenital primary megaureter
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Congenital prothrombin deficiency
- Congenital pseudoarthrosis of clavicle
- Congenital pseudoarthrosis of the limbs
- Congenital pulmonary lymphangiectasia
- Congenital pulmonary sequestration
- Congenital pulmonary veins atresia or stenosis
- Congenital pulmonary venous return anomaly
- Congenital retinal arteriovenous communication
- Congenital rubella syndrome
- Congenital secretory diarrhea, chloride type
- Congenital sensory neuropathy with selective loss of small myelinated fibers
- Congenital short bowel syndrome
- Congenital shoulder dislocation
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- Congenital sodium diarrhea
- Congenital stromal corneal dystrophy
- Congenital syphilis
- Congenital temporomandibular joint ankylosis
- Congenital total cataract
- Congenital toxoplasmosis
- Congenital tracheal stenosis
- Congenital tracheobronchomegaly
- Congenital tracheomalacia
- Congenital trigeminal anesthesia
- Congenital varicella syndrome
- Congenital vertebral-cardiac-renal anomalies syndrome
- Congenital vertical talus
- Congenitally corrected transposition of the great arteries
- Congenitally short costocoracoid ligament
- Congestive splenomegaly
- Cono-spondylar dysplasia
- Conotruncal heart malformations
- Constitutional megaloblastic anemia with severe neurologic disease
- Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
- Contractures-developmental delay-Pierre Robin syndrome
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
- Cooks syndrome
- Cooper-Jabs syndrome
- Cor triatriatum dexter
- Cor triatriatum sinister
- Core binding factor acute myeloid leukemia
- Corneal dystrophy-perceptive deafness syndrome
- Corneal dystrophy, lattice type 3A
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- Corneal-cerebellar syndrome
- Coronal synostosis, syndactyly and jejunal atresia
- Coronary artery fistula
- Coronary sinus atrial septal defect
- Corpus callosum agenesis-abnormal genitalia syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Cortical dysplasia-focal epilepsy syndrome
- Corticobasal degeneration disorder
- Corticobasal syndrome
- Corticosteroid-binding globulin deficiency
- Corticosteroid-sensitive aseptic abscess syndrome
- Corticosterone 18-monooxygenase deficiency
- Cortisone reductase deficiency
- Costello syndrome
- Cote katsantoni syndrome
- Cowden syndrome
- Coxoauricular syndrome
- Coxopodopatellar syndrome
- Cramp-fasciculation syndrome
- Crandall syndrome
- Crane-Heise syndrome
- Craniodiaphyseal dysplasia, autosomal dominant
- Craniodigital syndrome and intellectual disability syndrome
- Cranioectodermal dysplasia
- Craniofacial conodysplasia
- Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
- Craniofacial dysplasia - osteopenia syndrome
- Craniofacial dyssynostosis
- Craniofacial microsomia
- Craniofacial-deafness-hand syndrome
- Craniofaciofrontodigital syndrome
- Craniofrontonasal dysplasia-Poland anomaly syndrome
- Craniofrontonasal syndrome
- Craniolenticulosutural dysplasia
- Craniometadiaphyseal dysplasia wormian bone type
- Craniometaphyseal dysplasia
- Craniometaphyseal dysplasia, autosomal dominant
- Craniometaphyseal dysplasia, autosomal recessive
- Craniomicromelic syndrome
- Cranioosteoarthropathy
- Craniopharyngioma
- Craniorachischisis
- Craniorhiny
- Craniosynostosis 2
- Craniosynostosis and dental anomalies
- Craniosynostosis contractures cleft
- Craniosynostosis syndrome
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Craniosynostosis-intracranial calcifications syndrome
- Craniosynostosis, Herrmann-Opitz type
- Craniosynostosis, Philadelphia type
- Craniotelencephalic dysplasia
- Creatine transporter deficiency
- Creeping myiasis
- Creutzfeldt-Jakob disease
- Creutzfeldt-Jakob disease, sporadic
- Crigler-Najjar syndrome
- Crigler-Najjar syndrome type 1
- Crigler-Najjar syndrome, type II
- Crimean-Congo hemorrhagic fever
- Cronkhite-Canada syndrome
- Cross syndrome
- Crossed polydactyly, type I
- Crossed polysyndactyly
- Crouzon syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Cryoglobulinemic vasculitis
- Cryohydrocytosis
- Cryopyrin associated periodic syndrome
- Cryptococcosis
- Cryptogenic late-onset epileptic spasms
- Cryptogenic multifocal ulcerous stenosing enteritis
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- Cryptophthalmia
- Cryptophthalmos syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Cryptosporidiosis-chronic cholangitis-liver disease syndrome
- CTCF-related neurodevelopmental disorder
- Curly hair - acral keratoderma - caries syndrome
- Curly hair, ankyloblepharon, nail dysplasia syndrome
- Currarino triad
- Curry-Hall syndrome
- Curry-Jones syndrome
- Cushing syndrome
- Cushing syndrome due to macronodular adrenal hyperplasia
- Cutaneous collagenous vasculopathy
- Cutaneous larva migrans
- Cutaneous leukocytoclastic angiitis
- Cutaneous lupus erythematosus
- Cutaneous mastocytoma
- Cutaneous mastocytosis
- Cutaneous neuroendocrine carcinoma
- Cutaneous nodular amyloidosis
- Cutaneous photosensitivity-lethal colitis syndrome
- Cutaneous polyarteritis nodosa
- Cutaneous porphyria
- Cutaneous schistosomiasis
- Cutis gyrata of scalp
- Cutis laxa
- Cutis laxa - Marfanoid syndrome
- Cutis laxa with osteodystrophy
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
- Cutis laxa, autosomal dominant
- Cutis laxa, autosomal dominant 1
- Cutis laxa, autosomal recessive, type 1B
- Cutis laxa, X-linked
- CVID
- Cyclic thrombocytopenia
- Cyclical neutropenia
- Cyclosporiasis
- Cylindrical spirals myopathy
- Cyprus facial-neuromusculoskeletal syndrome
- Cystathioninuria
- Cystic echinococcosis
- Cystic fibrosis
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- Cystic hygroma
- Cystic leukoencephalopathy without megalencephaly
- Cysticercosis
- Cystinosis
- Cystinuria
- Cystoid macular edema
- Cytomegalovirus retinitis
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- Czeizel-Losonci syndrome
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