Abnormality of the integument

ORPHA:1308 C syndrome

OMIM:211750 C syndrome

OMIM:609536 C5 deficiency

OMIM:114030 Cafe-Au-Lait spots, multiple

OMIM:211770 Cahmr syndrome

ORPHA:280062 Calciphylaxis

OMIM:114140 Callosities, hereditary painful

ORPHA:83472 CAMOS syndrome

ORPHA:1318 Campomelia, Cumming type

OMIM:114290 Campomelic dysplasia

ORPHA:140 Campomelic dysplasia

ORPHA:1319 Camptobrachydactyly

ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1

ORPHA:488434 Camptodactyly syndrome, Guadalajara type 3

OMIM:211910 Camptodactyly syndrome, guadalajara, type I

OMIM:611929 Camptodactyly syndrome, Guadalajara, type III

OMIM:211960 Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases

ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome

OMIM:607539 Camptosynpolydactyly, complex

OMIM:131300 Camurati-Engelmann disease

ORPHA:1328 Camurati-Engelmann disease

OMIM:618373 Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma

ORPHA:71505 Cancer-associated retinopathy

OMIM:114580 Candidiasis, familial chronic mucocutaneous, autosomal dominant

OMIM:212050 Candidiasis, familial chronic mucocutaneous, autosomal recessive

OMIM:607644 Candidiasis, familial, 3

OMIM:613108 Candidiasis, familial, 4

OMIM:613956 Candidiasis, familial, 6, autosomal dominant

OMIM:615527 Candidiasis, familial, 8

OMIM:616445 Candidiasis, familial, 9

ORPHA:1517 Cantú syndrome

ORPHA:137667 Capillary malformation-arteriovenous malformation

OMIM:608354 Capillary malformation-arteriovenous malformation 1

OMIM:618196 Capillary malformation-arteriovenous malformation 2

ORPHA:542323 CAR T cell therapy-associated cytokine release syndrome

OMIM:212070 Carboxypeptidase N deficiency

ORPHA:100093 Carcinoid syndrome

OMIM:212093 Cardiac valvular defect, developmental

OMIM:620067 Cardiac valvular dysplasia 2

OMIM:314400 Cardiac valvular dysplasia, X-linked

ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome

OMIM:619142 Cardioacrofacial dysplasia 1

OMIM:619143 Cardioacrofacial dysplasia 2

OMIM:212100 Cardioauditory syndrome of sanchez cascos

ORPHA:2872 Cardiocranial syndrome, Pfeiffer type

ORPHA:1340 Cardiofaciocutaneous syndrome

OMIM:115150 Cardiofaciocutaneous syndrome 1

OMIM:615278 Cardiofaciocutaneous syndrome 2

OMIM:615279 Cardiofaciocutaneous syndrome 3

OMIM:615280 Cardiofaciocutaneous syndrome 4

OMIM:619123 Cardiofacioneurodevelopmental syndrome

OMIM:605676 Cardiomyopathy, dilated, with woolly hair and keratoderma

OMIM:615821 Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis

OMIM:618052 Cardiomyopathy, familial hypertrophic 27

ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome

OMIM:157800 Cardiospondylocarpofacial syndrome

ORPHA:1359 Carney complex

OMIM:160980 Carney complex, type 1

OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal

ORPHA:159 Carnitine-acylcarnitine translocase deficiency

ORPHA:53035 Caroli disease

ORPHA:480520 Caroli syndrome

OMIM:115300 Carotenemia, familial

OMIM:201000 Carpenter syndrome 1

OMIM:614976 Carpenter syndrome 2

OMIM:250250 Cartilage-hair hypoplasia

ORPHA:175 Cartilage-hair hypoplasia

ORPHA:65282 Carvajal syndrome

ORPHA:160 Castleman disease

OMIM:115470 Cat eye syndrome

ORPHA:195 Cat-eye syndrome

OMIM:212400 Cataract and congenital ichthyosis

ORPHA:1383 Cataract-deafness-hypogonadism syndrome

ORPHA:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome

OMIM:616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

ORPHA:464343 Catastrophic antiphospholipid syndrome

OMIM:616145 Catel-Manzke syndrome

ORPHA:1388 Catel-Manzke syndrome

OMIM:603116 CDAGS syndrome

ORPHA:505652 CDKL5-deficiency disorder

OMIM:618774 CEBALID syndrome

ORPHA:66631 CEDNIK syndrome

OMIM:212750 Celiac disease, susceptibility to, 1

OMIM:212780 Cenani-Lenz syndactyly syndrome

ORPHA:3258 Cenani-Lenz syndrome

OMIM:618352 Central centrifugal cicatricial alopecia

ORPHA:3240 Central nervous system calcification-deafness-tubular acidosis-anemia syndrome

ORPHA:759 Central precocious puberty

ORPHA:90156 Centrifugal lipodystrophy

OMIM:212835 Cerebellar ataxia and ectodermal dysplasia

OMIM:610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2

ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome

OMIM:616875 Cerebellar atrophy, visual impairment, and psychomotor retardation

OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities

OMIM:618479 Cerebellar, ocular, craniofacial, and genital syndrome

ORPHA:444072 Cerebellar-facial-dental syndrome

OMIM:616202 Cerebellofaciodental syndrome

ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

OMIM:116860 Cerebral cavernous malformations 1

OMIM:603284 Cerebral cavernous malformations 2

OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

ORPHA:1394 Cerebrofaciothoracic dysplasia

OMIM:214150 Cerebrooculofacioskeletal syndrome 1

OMIM:610756 Cerebrooculofacioskeletal syndrome 2

OMIM:616570 Cerebrooculofacioskeletal syndrome 3

OMIM:605627 Cerebrooculonasal syndrome

ORPHA:66625 Cerebrooculonasal syndrome

OMIM:612199 Cerebroretinal microangiopathy with calcifications and cysts

OMIM:617341 Cerebroretinal microangiopathy with calcifications and cysts 2

OMIM:213700 Cerebrotendinous xanthomatosis

ORPHA:909 Cerebrotendinous xanthomatosis

OMIM:117850 Cervical hypertrichosis with underlying kyphoscoliosis

ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome

OMIM:275630 Chanarin-Dorfman syndrome

ORPHA:1401 CHAND syndrome

OMIM:214350 CHANDS

OMIM:169100 Char syndrome

ORPHA:99956 Charcot-Marie-Tooth disease type 4B2

OMIM:118301 Charcot-Marie-Tooth disease with ptosis and parkinsonism

OMIM:600882 Charcot-Marie-Tooth disease, axonal, type 2B

OMIM:619764 Charcot-Marie-Tooth disease, demyelinating, type 1H

OMIM:302803 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia

ORPHA:138 CHARGE syndrome

OMIM:214800 Charge syndrome

ORPHA:1406 Charlie M syndrome

OMIM:214500 Chediak-Higashi syndrome

ORPHA:167 Chédiak-Higashi syndrome

ORPHA:1221 Cheilitis glandularis

OMIM:118350 Chemodectoma, intraabdominal, with cutaneous angiolipomas

OMIM:207950 Chiari malformation type II

ORPHA:324625 Chikungunya

ORPHA:90280 Chilblain lupus

OMIM:610448 Chilblain lupus 1

OMIM:614415 Chilblain lupus 2

ORPHA:64280 Childhood absence epilepsy

OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome

ORPHA:3474 CHIME syndrome

ORPHA:137914 Choanal atresia

ORPHA:70567 Cholangiocarcinoma

ORPHA:173 Cholera

OMIM:214980 Cholestasis with gallstone, ataxia, and visual disturbance

OMIM:243300 Cholestasis, benign recurrent intrahepatic 1

OMIM:605479 Cholestasis, benign recurrent intrahepatic, 2

OMIM:614972 Cholestasis, intrahepatic, of pregnancy 3

OMIM:147480 Cholestasis, intrahepatic, of pregnancy, 1

OMIM:211600 Cholestasis, progressive familial intrahepatic 1

OMIM:601847 Cholestasis, progressive familial intrahepatic 2

OMIM:619868 Cholestasis, progressive familial intrahepatic, 10

OMIM:619874 Cholestasis, progressive familial intrahepatic, 11

OMIM:620010 Cholestasis, progressive familial intrahepatic, 12

OMIM:602347 Cholestasis, progressive familial intrahepatic, 3

OMIM:617049 Cholestasis, progressive familial intrahepatic, 5

OMIM:619484 Cholestasis, progressive familial intrahepatic, 6

OMIM:619658 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss

OMIM:619662 Cholestasis, progressive familial intrahepatic, 8

OMIM:619849 Cholestasis, progressive familial intrahepatic, 9

ORPHA:1414 Cholestasis-lymphedema syndrome

OMIM:214900 Cholestasis-Lymphedema syndrome

ORPHA:79506 Cholesterol-ester transfer protein deficiency

ORPHA:75234 Cholesteryl ester storage disease

OMIM:302950 Chondrodysplasia punctata 1, X-linked recessive

OMIM:302960 Chondrodysplasia punctata 2, X-linked dominant

OMIM:118650 Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included

ORPHA:319195 Chondroectodermal dysplasia with night blindness

OMIM:619504 Chopra-Amiel-Gordon syndrome

OMIM:616368 CHOPS syndrome

ORPHA:1433 Choroidal atrophy-alopecia syndrome

ORPHA:85278 Christianson syndrome

ORPHA:182 Chromomycosis

OMIM:609625 Chromosome 10q26 deletion syndrome

OMIM:613884 Chromosome 13q14 deletion syndrome

OMIM:619148 Chromosome 13q33-q34 deletion syndrome

OMIM:615656 Chromosome 15q11.2 deletion syndrome

OMIM:612001 Chromosome 15q13.3 microdeletion syndrome

OMIM:616898 Chromosome 15q14 deletion syndrome

OMIM:614294 Chromosome 15q25 deletion syndrome

OMIM:613604 Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb

OMIM:610543 Chromosome 16p13.3 deletion syndrome

OMIM:613458 Chromosome 16p13.3 duplication syndrome

OMIM:614541 Chromosome 16q22 deletion syndrome

OMIM:613776 Chromosome 17p13.1 deletion syndrome

OMIM:613675 Chromosome 17q11.2 deletion syndrome, 1.4-mb

OMIM:618874 Chromosome 17q11.2 duplication syndrome, 1.4-Mb

OMIM:614527 Chromosome 17q12 deletion syndrome

OMIM:613618 Chromosome 17q23.1-q23.2 duplication syndrome

OMIM:146390 Chromosome 18p deletion syndrome

OMIM:601808 Chromosome 18Q deletion syndrome

OMIM:613026 Chromosome 19q13.11 deletion syndrome, distal

OMIM:607872 Chromosome 1p36 deletion syndrome

OMIM:619343 Chromosome 1p36 deletion syndrome, proximal

OMIM:612474 Chromosome 1q21.1 deletion syndrome, 1.35-mb

OMIM:612530 Chromosome 1q41-q42 deletion syndrome

OMIM:611867 Chromosome 22q11.2 deletion syndrome, distal

OMIM:600430 Chromosome 2q37 deletion syndrome

OMIM:613792 Chromosome 3pter-p25 deletion syndrome

OMIM:611936 Chromosome 3q29 duplication syndrome

OMIM:613603 Chromosome 4q32.1-q32.2 triplication syndrome

OMIM:613174 Chromosome 5p13 duplication syndrome

OMIM:612582 Chromosome 6pter-p24 deletion syndrome

OMIM:613544 Chromosome 6q11-q14 deletion syndrome

OMIM:612863 Chromosome 6q25-q25 deletion syndrome

OMIM:614230 Chromosome 8q21.11 deletion syndrome

OMIM:158170 Chromosome 9P deletion syndrome

OMIM:300801 Chromosome xp11.23-p11.22 duplication syndrome

OMIM:300578 Chromosome xp11.3 deletion syndrome

OMIM:301069 Chromosome Xq13 duplication syndrome

OMIM:300942 Chromosome Xq26.3 duplication syndrome

OMIM:300869 Chromosome xq27.3-q28 duplication syndrome

ORPHA:330064 Chronic actinic dermatitis

ORPHA:133 Chronic beryllium disease

ORPHA:529808 Chronic bilirubin encephalopathy

ORPHA:99921 Chronic graft versus host disease

ORPHA:379 Chronic granulomatous disease

OMIM:613960 Chronic granulomatous disease 3, autosomal recessive

OMIM:618935 Chronic granulomatous disease 5, autosomal recessive

OMIM:306400 Chronic granulomatous disease, X-linked

ORPHA:1334 Chronic mucocutaneous candidiasis

ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

ORPHA:91359 Chronic pneumonitis of infancy

OMIM:259680 Chronic recurrent multifocal osteomyelitis

ORPHA:263463 CHST3-related skeletal dysplasia

ORPHA:1160 Chylous ascites

ORPHA:435651 CIDEC-related familial partial lipodystrophy

ORPHA:1451 CINCA syndrome

OMIM:607115 Cinca syndrome

ORPHA:69744 Circumscribed palmoplantar hypokeratosis

OMIM:215550 Circumvallate placenta syndrome

OMIM:215600 Cirrhosis, familial

ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:57777 Cirrhotic cardiomyopathy

ORPHA:168984 CLAPO syndrome

ORPHA:79239 Classic galactosemia

ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome

ORPHA:391 Classic Hodgkin lymphoma

ORPHA:394 Classic homocystinuria

ORPHA:2584 Classic mycosis fungoides

ORPHA:79254 Classic phenylketonuria

ORPHA:287 Classical Ehlers-Danlos syndrome

ORPHA:230839 Classical-like Ehlers-Danlos syndrome type 1

ORPHA:536532 Classical-like Ehlers-Danlos syndrome type 2

OMIM:215800 Cleft larynx, posteriorstridor, congenital, included

ORPHA:141291 Cleft lip and alveolus

OMIM:216100 Cleft lip/palate with abnormal thumbs and microcephaly

ORPHA:2003 Cleft lip/palate-deafness-sacral lipoma syndrome

ORPHA:3253 Cleft lip/palate-ectodermal dysplasia syndrome

OMIM:225060 Cleft lip/palate-ectodermal dysplasia syndrome

OMIM:600987 Cleft palate, cardiac defects, and mental retardation

OMIM:619074 Cleft palate, proliferative retinopathy, and developmental delay

OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features

ORPHA:2013 Cleft palate-large ears-small head syndrome

OMIM:155145 Cleft, median, of upper lip with polyps of facial skin and nasal mucosa

ORPHA:1452 Cleidocranial dysplasia

ORPHA:1453 Cleidorhizomelic syndrome

ORPHA:228346 CLN3 disease

OMIM:129500 Clouston syndrome

OMIM:119800 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly

OMIM:119915 Cluster headache, familial

OMIM:300216 Coats disease

ORPHA:90068 Cocaine intoxication

ORPHA:228123 Coccidioidomycosis

ORPHA:191 Cockayne syndrome

OMIM:216400 Cockayne syndrome A

ORPHA:90321 Cockayne syndrome type 1

ORPHA:90322 Cockayne syndrome type 2

ORPHA:90324 Cockayne syndrome type 3

OMIM:133540 Cockayne syndrome, type B

OMIM:614651 Coenzyme Q10 deficiency, primary, 2

ORPHA:192 Coffin-Lowry syndrome

OMIM:303600 Coffin-Lowry syndrome

ORPHA:1465 Coffin-Siris syndrome

OMIM:135900 Coffin-Siris syndrome 1

OMIM:618779 Coffin-Siris syndrome 11

OMIM:619325 Coffin-Siris syndrome 12

OMIM:614607 Coffin-Siris syndrome 2

OMIM:614608 Coffin-Siris syndrome 3

OMIM:614609 Coffin-Siris syndrome 4

OMIM:616938 Coffin-Siris syndrome 5

OMIM:618027 Coffin-Siris syndrome 7

OMIM:618362 Coffin-Siris syndrome 8

OMIM:615866 Coffin-Siris syndrome 9

ORPHA:1466 COFS syndrome

ORPHA:263501 COG4-CDG

ORPHA:263487 COG5-CDG

ORPHA:79333 COG7-CDG

ORPHA:95428 COG8-CDG

ORPHA:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

ORPHA:193 Cohen syndrome

OMIM:216550 Cohen syndrome

OMIM:617561 Cohen-Gibson syndrome

ORPHA:31824 Colchicine poisoning

ORPHA:56425 Cold agglutinin disease

OMIM:610313 Cold-Induced sweating syndrome 2

OMIM:615522 Cole disease

OMIM:115250 Collagenoma, familial cutaneous

OMIM:216700 Collagenosis, familial reactive perforating

ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome

OMIM:617306 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness

ORPHA:35909 Combined deficiency of factor V and factor VIII

OMIM:617780 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

ORPHA:169090 Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:217390 Combined immunodeficiency due to DOCK8 deficiency

ORPHA:911 Combined immunodeficiency due to ZAP70 deficiency

ORPHA:221139 Combined immunodeficiency with faciooculoskeletal anomalies

ORPHA:436252 Combined immunodeficiency-enteropathy spectrum

OMIM:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

OMIM:619120 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

ORPHA:444013 Combined oxidative phosphorylation defect type 23

OMIM:610498 Combined oxidative phosphorylation deficiency 2

OMIM:617950 Combined oxidative phosphorylation deficiency 36

OMIM:611719 Combined oxidative phosphorylation deficiency 5

OMIM:619743 Combined oxidative phosphorylation deficiency 55

ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms

OMIM:120450 Comedones, familial dyskeratotic

OMIM:120500 Commissural lip pits

ORPHA:1572 Common variable immunodeficiency

OMIM:217000 Complement component 2 deficiency

OMIM:614380 Complement component 4A deficiency

OMIM:216950 Complement component c1r deficiency

OMIM:610984 Complement factor I deficiency

ORPHA:99429 Complete androgen insensitivity syndrome

ORPHA:1329 Complete atrioventricular septal defect

ORPHA:83452 Complex regional pain syndrome

ORPHA:3216 Conductive deafness-malformed external ear syndrome

ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome

OMIM:610381 Cone-Rod dystrophy 11

OMIM:605549 Cone-Rod dystrophy 8

ORPHA:294975 Congenital absence of upper arm and forearm with hand present

ORPHA:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral

ORPHA:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

ORPHA:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

ORPHA:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

ORPHA:79 Congenital alpha2-antiplasmin deficiency

ORPHA:3319 Congenital amegakaryocytic thrombocytopenia

OMIM:611890 Congenital arthrogryposis with anterior horn cell disease

ORPHA:79301 Congenital bile acid synthesis defect type 1

ORPHA:79303 Congenital bile acid synthesis defect type 2

ORPHA:79302 Congenital bile acid synthesis defect type 3

ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome

OMIM:615273 Congenital disorder of deglycosylation 1

OMIM:619775 Congenital disorder of deglycosylation 2

OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1

OMIM:619493 Congenital disorder of glycosylation, type 2V

OMIM:212067 Congenital disorder of glycosylation, type I/IIx

OMIM:212065 Congenital disorder of glycosylation, type Ia

OMIM:617082 Congenital disorder of glycosylation, type IAA

OMIM:601110 Congenital disorder of glycosylation, type Id

OMIM:608799 Congenital disorder of glycosylation, type IE

OMIM:609180 Congenital disorder of glycosylation, type IF

OMIM:212066 Congenital disorder of glycosylation, type IIa

OMIM:606056 Congenital disorder of glycosylation, type IIB

OMIM:266265 Congenital disorder of glycosylation, type IIc

OMIM:608779 Congenital disorder of glycosylation, type IIe

OMIM:603585 Congenital disorder of glycosylation, type IIf

OMIM:613489 Congenital disorder of glycosylation, type IIj

OMIM:614576 Congenital disorder of glycosylation, type IIl

OMIM:300896 Congenital disorder of glycosylation, type IIm

OMIM:616828 Congenital disorder of glycosylation, type IIO

OMIM:301045 Congenital disorder of glycosylation, type IIr

OMIM:619525 Congenital disorder of glycosylation, type IIw

OMIM:608093 Congenital disorder of glycosylation, type Ij

OMIM:610768 Congenital disorder of glycosylation, type Im

OMIM:613661 Congenital disorder of glycosylation, type Ip

OMIM:612379 Congenital disorder of glycosylation, type IQ

OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal dominant

ORPHA:98870 Congenital dyserythropoietic anemia type III

ORPHA:292 Congenital enterovirus infection

ORPHA:79277 Congenital erythropoietic porphyria

ORPHA:326 Congenital factor V deficiency

ORPHA:327 Congenital factor VII deficiency

ORPHA:328 Congenital factor X deficiency

ORPHA:330 Congenital factor XII deficiency

ORPHA:331 Congenital factor XIII deficiency

ORPHA:335 Congenital fibrinogen deficiency

ORPHA:528 Congenital generalized lipodystrophy

ORPHA:98976 Congenital glaucoma

ORPHA:1355 Congenital heart defect-round face-developmental delay syndrome

OMIM:617364 Congenital heart defects and ectodermal dysplasia

OMIM:617602 Congenital heart defects and skeletal malformations syndrome

OMIM:617360 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

OMIM:619657 Congenital heart defects, multiple types, 8, with or without heterotaxy

OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

ORPHA:442 Congenital hypothyroidism

ORPHA:226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs

ORPHA:95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

OMIM:618494 Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

ORPHA:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome

ORPHA:199296 Congenital isolated ACTH deficiency

ORPHA:495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

ORPHA:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

ORPHA:1954 Congenital lethal erythroderma

ORPHA:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency

OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

ORPHA:2430 Congenital macroglossia

ORPHA:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy

ORPHA:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

ORPHA:590 Congenital myasthenic syndrome

ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma

ORPHA:313906 Congenital pancreatic cyst

ORPHA:139414 Congenital panfollicular nevus

ORPHA:465 Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

OMIM:613679 Congenital prothrombin deficiency

ORPHA:91411 Congenital ptosis

ORPHA:2414 Congenital pulmonary lymphangiectasia

ORPHA:290 Congenital rubella syndrome

ORPHA:2301 Congenital short bowel syndrome

ORPHA:93400 Congenital sialidosis type 2

ORPHA:99125 Congenital total pulmonary venous return anomaly

ORPHA:858 Congenital toxoplasmosis

ORPHA:141127 Congenital tracheal stenosis

ORPHA:95430 Congenital tracheomalacia

ORPHA:555874 Congenital tricuspid valve dysplasia

ORPHA:92050 Congenital tufting enteropathy

ORPHA:291 Congenital varicella syndrome

ORPHA:216694 Congenitally corrected transposition of the great arteries

ORPHA:860 Congenitally uncorrected transposition of the great arteries

ORPHA:420794 Cono-spondylar dysplasia

OMIM:178110 Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A

OMIM:618469 Contractures, pterygia, and variable skeletal fusions syndrome 1B

ORPHA:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1487 Cooks syndrome

ORPHA:1488 Cooper-Jabs syndrome

OMIM:121270 Copper deficiency, familial benign

OMIM:121300 Coproporphyria

OMIM:122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation

ORPHA:199 Cornelia de Lange syndrome

OMIM:122470 Cornelia de Lange syndrome 1

OMIM:300590 Cornelia de Lange syndrome 2

OMIM:610759 Cornelia de Lange syndrome 3

OMIM:614701 Cornelia de Lange syndrome 4

OMIM:300882 Cornelia de Lange syndrome 5

ORPHA:3194 Corneodermatoosseous syndrome

OMIM:122440 Corneodermatoosseous syndrome

ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome

OMIM:217990 Corpus callosum, agenesis of

OMIM:300004 Corpus callosum, agenesis of, with abnormal genitalia

OMIM:616819 Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia

OMIM:217980 Corpus callosum, agenesis of, with facial anomalies and Robin sequence

OMIM:604931 Cortisone reductase deficiency 1

OMIM:614662 Cortisone reductase deficiency 2

OMIM:218040 Costello syndrome

ORPHA:3071 Costello syndrome

OMIM:260660 Cousin syndrome

ORPHA:201 Cowden syndrome

OMIM:158350 Cowden syndrome 1

OMIM:615107 Cowden syndrome 4

OMIM:615108 Cowden syndrome 5

OMIM:615109 Cowden syndrome 6

OMIM:616858 Cowden syndrome 7

ORPHA:202 Crandall syndrome

ORPHA:1525 Cranio-osteoarthropathy

ORPHA:1514 Craniodigital-intellectual disability syndrome

ORPHA:1515 Cranioectodermal dysplasia

OMIM:218330 Cranioectodermal dysplasia

OMIM:613610 Cranioectodermal dysplasia 2

OMIM:614099 Cranioectodermal dysplasia 3

OMIM:614378 Cranioectodermal dysplasia 4

OMIM:608227 Craniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation

OMIM:213980 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome

ORPHA:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

OMIM:114620 Craniofaciofrontodigital syndrome

ORPHA:363705 Craniofaciofrontodigital syndrome

ORPHA:1520 Craniofrontonasal dysplasia

ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome

OMIM:304110 Craniofrontonasal syndrome

ORPHA:50814 Craniolenticulosutural dysplasia

OMIM:607812 Craniolenticulosutural dysplasia

ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type

OMIM:123050 CRANIORHINY

OMIM:615314 Craniosynostosis 3

OMIM:616602 Craniosynostosis 6

OMIM:614188 Craniosynostosis and dental anomalies

OMIM:218550 Craniosynostosis with fibular aplasia

ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome

OMIM:218650 Craniosynostosis-Mental retardation-clefting syndrome

OMIM:218670 Craniotelencephalic dysplasia

OMIM:123450 Cri-Du-Chat syndrome

ORPHA:205 Crigler-Najjar syndrome

ORPHA:79234 Crigler-Najjar syndrome type 1

ORPHA:79235 Crigler-Najjar syndrome type 2

OMIM:218800 Crigler-Najjar syndrome, type I

OMIM:606785 Crigler-najjar syndrome, type II

ORPHA:99827 Crimean-Congo hemorrhagic fever

ORPHA:1545 Crisponi syndrome

OMIM:272430 Crisponi/cold-induced sweating syndrome 1

ORPHA:1461 Criss-cross heart

ORPHA:2930 Cronkhite-Canada syndrome

ORPHA:2935 Crossed polysyndactyly

ORPHA:207 Crouzon syndrome

OMIM:612247 Crouzon syndrome with acanthosis nigricans

ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome

OMIM:123540 Cryofibrinogenemia, familial primary

ORPHA:91138 Cryoglobulinemic vasculitis

ORPHA:1302 Cryptogenic organizing pneumonia

OMIM:123560 Cryptomicrotia-Brachydactyly syndrome

ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

ORPHA:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome

ORPHA:363611 CTCF-related neurodevelopmental disorder

OMIM:300471 Cubitus valgus with mental retardation and unusual facies

OMIM:176450 Currarino syndrome

OMIM:601707 Curry-Jones syndrome

ORPHA:1553 Curry-Jones syndrome

OMIM:219070 Curved nail of fourth toe

ORPHA:96253 Cushing disease

ORPHA:99889 Cushing syndrome due to ectopic ACTH secretion

ORPHA:189427 Cushing syndrome due to macronodular adrenal hyperplasia

ORPHA:280779 Cutaneous collagenous vasculopathy

ORPHA:79455 Cutaneous mastocytoma

OMIM:248910 Cutaneous mastocytosis, conductive hearing loss, and microtia

ORPHA:79140 Cutaneous neuroendocrine carcinoma

OMIM:219095 Cutaneous photosensitivity and colitis, lethal

ORPHA:889 Cutaneous small vessel vasculitis

OMIM:614564 Cutaneous telangiectasia and cancer syndrome, familial

ORPHA:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

OMIM:123700 Cutis laxa, autosomal dominant 1

OMIM:614434 Cutis laxa, autosomal dominant 2

OMIM:616603 Cutis laxa, autosomal dominant 3

OMIM:219100 Cutis laxa, autosomal recessive, type IA

OMIM:614437 Cutis laxa, autosomal recessive, type IB

OMIM:613177 Cutis laxa, autosomal recessive, type IC

OMIM:219200 Cutis laxa, autosomal recessive, type IIA

OMIM:612940 Cutis laxa, autosomal recessive, type IIB

OMIM:617402 Cutis laxa, autosomal recessive, type IIC

OMIM:617403 Cutis laxa, autosomal recessive, type IID

OMIM:619451 Cutis laxa, autosomal recessive, type IIE

OMIM:219150 Cutis laxa, autosomal recessive, type IIIA

OMIM:614438 Cutis laxa, autosomal recessive, type IIIB

OMIM:614100 Cutis laxa, neonatal, with marfanoid phenotype

ORPHA:171719 Cutis laxa-Marfanoid syndrome

OMIM:219250 Cutis marmorata telangiectatica congenita

ORPHA:1556 Cutis marmorata telangiectatica congenita

OMIM:219300 Cutis verticis gyrata and mental deficiency

OMIM:304200 Cutis verticis gyrata, thyroid aplasia, and mental retardation

ORPHA:306692 Cyanide-induced parkinsonism-dystonia

OMIM:219400 Cyanosis and hepatic disease

OMIM:613977 Cyanosis, transient neonatal

ORPHA:2686 Cyclic neutropenia

OMIM:500007 Cyclic vomiting syndrome

OMIM:132700 Cylindromatosis, familial

ORPHA:400 Cystic echinococcosis

OMIM:219800 Cystinosis, nephropathic

ORPHA:2437 Czeizel-Losonci syndrome

Référentiel des examens de génétique

Code Aire thérapeutique (HPO) :

Panel «Abnormality of the integument» :

Panel par pathologie associée :