Abnormality of the musculoskeletal system

OMIM:613089 Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth

ORPHA:137667 Capillary malformation-arteriovenous malformation

ORPHA:147 Carbamoyl-phosphate synthetase 1 deficiency

ORPHA:100093 Carcinoid syndrome

ORPHA:1686 Cardiac diverticulum

OMIM:212080 Cardiac lipidosis, familial

OMIM:212093 Cardiac valvular defect, developmental

OMIM:314400 Cardiac valvular dysplasia, X-linked

OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay

OMIM:618280 Cardiac-Urogenital syndrome

ORPHA:230851 Cardiac-valvular Ehlers-Danlos syndrome

OMIM:619142 Cardioacrofacial dysplasia 1

OMIM:619143 Cardioacrofacial dysplasia 2

ORPHA:2872 Cardiocranial syndrome, Pfeiffer type

ORPHA:1340 Cardiofaciocutaneous syndrome

OMIM:115150 Cardiofaciocutaneous syndrome 1

OMIM:615279 Cardiofaciocutaneous syndrome 3

OMIM:615280 Cardiofaciocutaneous syndrome 4

OMIM:619123 Cardiofacioneurodevelopmental syndrome

OMIM:212130 Cardiomyopathy associated with myopathy and sudden death

OMIM:611615 Cardiomyopathy, dilated, 1X

OMIM:618189 Cardiomyopathy, dilated, 2C

OMIM:619897 Cardiomyopathy, dilated, 2G

OMIM:302045 Cardiomyopathy, dilated, 3B

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

OMIM:618052 Cardiomyopathy, familial hypertrophic 27

OMIM:115197 Cardiomyopathy, familial hypertrophic, 4

ORPHA:1345 Cardiomyopathy-cataract-hip spine disease syndrome

ORPHA:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome

OMIM:606842 Cardioneuromyopathy with hyaline masses and nemaline rods

OMIM:212135 Cardioskeletal syndrome, Kuwaiti type

OMIM:157800 Cardiospondylocarpofacial syndrome

ORPHA:3238 Cardiospondylocarpofacial syndrome

ORPHA:1358 Carey-Fineman-Ziter syndrome

OMIM:254940 Carey-Fineman-Ziter syndrome

OMIM:619941 Carey-Fineman-Ziter syndrome 2

ORPHA:97355 Caribbean parkinsonism

ORPHA:1359 Carney complex

OMIM:608837 Carney complex variant

OMIM:212160 Carnitine deficiency, myopathic

OMIM:212140 Carnitine deficiency, systemic primary

ORPHA:156 Carnitine palmitoyl transferase 1A deficiency

ORPHA:228302 Carnitine palmitoyl transferase II deficiency, myopathic form

ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form

ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form

OMIM:255120 Carnitine palmitoyltransferase I deficiency

ORPHA:157 Carnitine palmitoyltransferase II deficiency

OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal

OMIM:255110 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced

OMIM:212138 Carnitine-acylcarnitine translocase deficiency

ORPHA:159 Carnitine-acylcarnitine translocase deficiency

OMIM:115400 Carpal displacement

OMIM:115430 Carpal tunnel syndrome

OMIM:619161 Carpal tunnel syndrome 2

ORPHA:65759 Carpenter syndrome

OMIM:201000 Carpenter syndrome 1

OMIM:614976 Carpenter syndrome 2

OMIM:250250 Cartilage-hair hypoplasia

ORPHA:175 Cartilage-hair hypoplasia

OMIM:115470 Cat eye syndrome

ORPHA:195 Cat-eye syndrome

OMIM:610623 Cataract 11, multiple types

OMIM:300619 Cataract, ataxia, short stature, and mental retardation

OMIM:212540 Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome

ORPHA:1373 Cataract-aberrant oral frenula-growth delay syndrome

ORPHA:1368 Cataract-ataxia-deafness syndrome

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

ORPHA:1375 Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome

ORPHA:1387 Cataract-intellectual disability-hypogonadism syndrome

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

OMIM:619338 Cataracts, spastic paraparesis, and speech delay

ORPHA:464343 Catastrophic antiphospholipid syndrome

OMIM:616145 Catel-Manzke syndrome

ORPHA:1388 Catel-Manzke syndrome

OMIM:618761 Catifa syndrome

ORPHA:1123 Caudal appendage-deafness syndrome

ORPHA:1756 Caudal duplication

ORPHA:3027 Caudal regression 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

OMIM:117000 Central core disease

ORPHA:597 Central core disease

OMIM:619482 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction

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

ORPHA:73256 Central neurocytoma

ORPHA:759 Central precocious puberty

ORPHA:90156 Centrifugal lipodystrophy

OMIM:212840 Cerebellar ataxia and hypogonadotropic hypogonadism

OMIM:601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

ORPHA:94122 Cerebellar ataxia, Cayman type

OMIM:601238 Cerebellar ataxia, Cayman type

OMIM:604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

OMIM:224050 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

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

ORPHA:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome

OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay

OMIM:617643 Cerebellar atrophy, developmental delay, and seizures

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

OMIM:614756 Cerebellar dysfunction with variable cognitive and behavioral abnormalities

OMIM:619761 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism

OMIM:213000 Cerebellar hypoplasia

ORPHA:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome

OMIM:213010 Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome

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

ORPHA:444072 Cerebellar-facial-dental syndrome

OMIM:616202 Cerebellofaciodental syndrome

OMIM:176500 Cerebral amyloid angiopathy, itm2b-related, 1

ORPHA:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

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

OMIM:116860 Cerebral cavernous malformations 1

OMIM:300352 Cerebral creatine deficiency syndrome 1

OMIM:612736 Cerebral creatine deficiency syndrome 2

OMIM:612718 Cerebral creatine deficiency syndrome 3

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

OMIM:612900 Cerebral palsy, spastic quadriplegic, 2

OMIM:617008 Cerebral palsy, spastic quadriplegic, 3

OMIM:302700 Cerebral sclerosis, diffuse, Scholz type

ORPHA:447788 Cerebral visual impairment

OMIM:300864 Cerebral-Cerebellar-Coloboma syndrome, X-linked

ORPHA:1393 Cerebrocostomandibular syndrome

OMIM:117650 Cerebrocostomandibular syndrome

ORPHA:314679 Cerebrofacioarticular syndrome

ORPHA:1394 Cerebrofaciothoracic dysplasia

OMIM:214150 Cerebrooculofacioskeletal syndrome 1

OMIM:610756 Cerebrooculofacioskeletal syndrome 2

OMIM:616570 Cerebrooculofacioskeletal syndrome 3

OMIM:610758 Cerebrooculofacioskeletal syndrome 4

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

ORPHA:169079 Cernunnos-XLF deficiency

OMIM:256730 Ceroid lipofuscinosis, neuronal, 1

OMIM:610127 Ceroid lipofuscinosis, neuronal, 10

OMIM:609055 Ceroid lipofuscinosis, neuronal, 9

OMIM:117850 Cervical hypertrichosis with underlying kyphoscoliosis

ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome

OMIM:117900 Cervical rib

OMIM:601389 Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction

OMIM:214290 Cervical vertebrae, agenesis of

OMIM:118000 Cervical vertebral bridge

OMIM:118005 Cervical vertebral dysplasia

OMIM:275630 Chanarin-Dorfman syndrome

ORPHA:1401 CHAND syndrome

OMIM:169100 Char syndrome

ORPHA:46627 Char syndrome

OMIM:118300 Charcot-Marie-Tooth disease and deafness

ORPHA:101081 Charcot-Marie-Tooth disease type 1A

ORPHA:101082 Charcot-Marie-Tooth disease type 1B

ORPHA:90658 Charcot-Marie-Tooth disease type 1E

ORPHA:101085 Charcot-Marie-Tooth disease type 1F

ORPHA:98856 Charcot-Marie-Tooth disease type 2B1

ORPHA:99948 Charcot-Marie-Tooth disease type 4A

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

ORPHA:99949 Charcot-Marie-Tooth disease type 4C

ORPHA:99950 Charcot-Marie-Tooth disease type 4D

ORPHA:99953 Charcot-Marie-Tooth disease type 4G

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

OMIM:617087 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B

OMIM:118210 Charcot-Marie-Tooth disease, axonal, type 2A1

OMIM:609260 Charcot-marie-tooth disease, axonal, type 2A2A

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

OMIM:605588 Charcot-Marie-Tooth disease, axonal, type 2B1

OMIM:605589 Charcot-Marie-Tooth disease, axonal, type 2B2

OMIM:616924 Charcot-Marie-Tooth disease, axonal, type 2CC

OMIM:601472 Charcot-Marie-Tooth disease, axonal, type 2D

OMIM:618036 Charcot-Marie-Tooth disease, axonal, type 2DD

OMIM:607684 Charcot-Marie-Tooth disease, axonal, type 2E

OMIM:618400 Charcot-Marie-Tooth disease, axonal, type 2EE

OMIM:606595 Charcot-Marie-Tooth disease, axonal, type 2F

OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF

OMIM:607731 Charcot-Marie-Tooth disease, axonal, type 2H

OMIM:619574 Charcot-Marie-Tooth disease, axonal, type 2HH

OMIM:607677 Charcot-Marie-Tooth disease, axonal, type 2I

OMIM:620068 Charcot-Marie-Tooth disease, axonal, type 2II

OMIM:607831 Charcot-Marie-Tooth disease, axonal, type 2K

OMIM:608673 Charcot-Marie-Tooth disease, axonal, type 2L

OMIM:613287 Charcot-Marie-Tooth disease, axonal, type 2N

OMIM:614228 Charcot-marie-tooth disease, axonal, type 2O

OMIM:614436 Charcot-Marie-Tooth disease, axonal, type 2P

OMIM:615025 Charcot-Marie-Tooth disease, axonal, type 2Q

OMIM:615490 Charcot-Marie-Tooth disease, axonal, type 2R

OMIM:616155 Charcot-Marie-Tooth disease, axonal, type 2S

OMIM:617017 Charcot-Marie-Tooth disease, axonal, type 2T

OMIM:616280 Charcot-Marie-Tooth disease, axonal, type 2U

OMIM:616625 Charcot-Marie-Tooth disease, axonal, type 2W

OMIM:616668 Charcot-Marie-Tooth disease, axonal, type 2X

OMIM:616687 Charcot-Marie-Tooth disease, axonal, type 2Y

OMIM:616688 Charcot-Marie-Tooth disease, axonal, type 2Z

OMIM:607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive

OMIM:118220 Charcot-Marie-Tooth disease, demyelinating, type 1A

OMIM:601098 Charcot-Marie-Tooth disease, demyelinating, type 1C

OMIM:607678 Charcot-Marie-Tooth disease, demyelinating, type 1D

OMIM:607734 Charcot-Marie-Tooth disease, demyelinating, type 1F

OMIM:618279 Charcot-Marie-Tooth disease, demyelinating, type 1G

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

OMIM:619742 Charcot-Marie-Tooth disease, demyelinating, type 1I

OMIM:614895 Charcot-Marie-Tooth disease, demyelinating, type 4F

OMIM:606483 Charcot-Marie-Tooth disease, dominant intermediate A

OMIM:606482 Charcot-Marie-Tooth disease, dominant intermediate B

OMIM:608323 Charcot-Marie-Tooth disease, dominant intermediate C

OMIM:607791 Charcot-Marie-Tooth disease, dominant intermediate D

OMIM:614455 Charcot-Marie-Tooth disease, dominant intermediate E

OMIM:615185 Charcot-Marie-Tooth disease, dominant intermediate F

OMIM:617882 Charcot-Marie-Tooth disease, dominant intermediate G

OMIM:608340 Charcot-Marie-Tooth disease, recessive intermediate A

OMIM:613641 Charcot-marie-tooth disease, recessive intermediate B

OMIM:615376 Charcot-Marie-Tooth disease, recessive intermediate C

OMIM:616039 Charcot-Marie-Tooth disease, recessive intermediate D

OMIM:118200 Charcot-Marie-Tooth disease, type 1B

OMIM:607736 Charcot-Marie-Tooth disease, type 2J

OMIM:214400 Charcot-Marie-Tooth disease, type 4A

OMIM:601382 Charcot-Marie-Tooth disease, type 4B1

OMIM:604563 Charcot-Marie-Tooth disease, type 4B2

OMIM:615284 Charcot-Marie-Tooth disease, type 4B3

OMIM:601596 Charcot-Marie-Tooth disease, type 4C

OMIM:601455 Charcot-Marie-Tooth disease, type 4D

OMIM:609311 Charcot-marie-tooth disease, type 4H

OMIM:611228 Charcot-Marie-Tooth disease, type 4J

OMIM:616684 Charcot-Marie-Tooth disease, type 4K

OMIM:300905 Charcot-Marie-Tooth disease, X-linked dominant, 6

OMIM:302801 Charcot-Marie-Tooth disease, X-linked recessive, 2

OMIM:302802 Charcot-Marie-Tooth disease, X-linked recessive, 3

OMIM:311070 Charcot-Marie-Tooth disease, X-linked recessive, 5

ORPHA:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

OMIM:302800 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1

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

ORPHA:138 CHARGE syndrome

OMIM:214800 Charge syndrome

OMIM:302905 Charge-Like syndrome, X-linked

ORPHA:1406 Charlie M syndrome

OMIM:214500 Chediak-Higashi syndrome

ORPHA:167 Chédiak-Higashi syndrome

OMIM:118350 Chemodectoma, intraabdominal, with cutaneous angiolipomas

ORPHA:184 Cherubism

OMIM:118400 Cherubism

OMIM:118420 Chiari malformation type I

OMIM:207950 Chiari malformation type II

ORPHA:324625 Chikungunya

ORPHA:90280 Chilblain lupus

ORPHA:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

ORPHA:171439 Childhood-onset nemaline myopathy

ORPHA:401866 Childhood-onset spasticity with hyperglycinemia

OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome

ORPHA:3474 CHIME syndrome

OMIM:617180 Chitayat syndrome

ORPHA:137914 Choanal atresia

ORPHA:173 Cholera

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

OMIM:211600 Cholestasis, progressive familial intrahepatic 1

ORPHA:1414 Cholestasis-lymphedema syndrome

ORPHA:79506 Cholesterol-ester transfer protein deficiency

ORPHA:75234 Cholesteryl ester storage disease

OMIM:600668 Chondrocalcinosis 1

OMIM:118600 Chondrocalcinosis 2

OMIM:118610 Chondrocalcinosis due to apatite crystal deposition

OMIM:215050 Chondrodysplasia calcificans metaphysealis

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

OMIM:118651 Chondrodysplasia punctata, Tibia-Metacarpal type

OMIM:614078 Chondrodysplasia with joint dislocations, Gpapp type

OMIM:300863 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

OMIM:215045 Chondrodysplasia, Blomstrand type

OMIM:601376 Chondrodysplasia, lethal, with long bone angulation and mixed bone density

ORPHA:1422 Chondrodysplasia-disorder of sex development syndrome

ORPHA:319195 Chondroectodermal dysplasia with night blindness

OMIM:215250 Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome

OMIM:215300 Chondrosarcoma

OMIM:612237 Chondrosarcoma, extraskeletal myxoid

OMIM:619504 Chopra-Amiel-Gordon syndrome

OMIM:616368 CHOPS syndrome

OMIM:215400 Chordoma, susceptibility to

OMIM:118700 Chorea, benign hereditary

ORPHA:2388 Choreoacanthocytosis

OMIM:200150 CHOREOACANTHOCYTOSIS

OMIM:118750 Choreoathetosis, familial inverted

OMIM:610978 Choreoathetosis, hypothyroidism, and neonatal respiratory distress

OMIM:215480 Choroid plexus calcification and mental retardation

ORPHA:1433 Choroidal atrophy-alopecia syndrome

OMIM:118865 Choroidal osteoma, bilateral

ORPHA:85278 Christianson syndrome

ORPHA:182 Chromomycosis

OMIM:612242 Chromosome 10q22.3-q23.2 deletion syndrome

OMIM:609625 Chromosome 10q26 deletion syndrome

OMIM:613884 Chromosome 13q14 deletion syndrome

OMIM:619148 Chromosome 13q33-q34 deletion syndrome

OMIM:613457 Chromosome 14q11-q22 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:612626 Chromosome 15q26-qter deletion syndrome

OMIM:611913 Chromosome 16p11.2 deletion syndrome, 593-kb

OMIM:136570 Chromosome 16p12.1 deletion syndrome, 520-kbfragile site 16p12, included

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

OMIM:616863 Chromosome 16p13.2 deletion syndrome

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:612576 Chromosome 17p13.3, telomeric, duplication 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:614526 Chromosome 17Q12 duplication syndrome

OMIM:613355 Chromosome 17q23.1-q23.2 deletion syndrome

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

OMIM:146390 Chromosome 18p deletion syndrome

OMIM:601808 Chromosome 18Q deletion syndrome

OMIM:613638 Chromosome 19p13.13 deletion syndrome

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

OMIM:617219 Chromosome 19q13.11 deletion syndrome, proximal

OMIM:617930 Chromosome 1p35 deletion syndrome

OMIM:607872 Chromosome 1p36 deletion syndrome

OMIM:619343 Chromosome 1p36 deletion syndrome, proximal

OMIM:618815 Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster

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

OMIM:612475 Chromosome 1q21.1 duplication syndrome

OMIM:612530 Chromosome 1q41-q42 deletion syndrome

OMIM:614257 Chromosome 20q11-q12 deletion syndrome

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

OMIM:608363 Chromosome 22q11.2 duplication syndrome

OMIM:612513 Chromosome 2p16.1-p15 deletion syndrome

OMIM:613681 Chromosome 2q31.1 duplication syndrome

OMIM:185900 Chromosome 2q35 duplication syndrome

OMIM:600430 Chromosome 2q37 deletion syndrome

OMIM:613792 Chromosome 3pter-p25 deletion syndrome

OMIM:615433 Chromosome 3q13.31 deletion syndrome

OMIM:609425 Chromosome 3q29 deletion syndrome

OMIM:611936 Chromosome 3q29 duplication syndrome

OMIM:613509 Chromosome 4q21 deletion syndrome

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

OMIM:613174 Chromosome 5p13 duplication syndrome

OMIM:615668 Chromosome 5q12 deletion 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:151200 Chromosome 8q22.1 duplication 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: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:306400 Chronic granulomatous disease, X-linked

ORPHA:396 Chronic hiccup

ORPHA:2932 Chronic inflammatory demyelinating polyneuropathy

ORPHA:1334 Chronic mucocutaneous candidiasis

ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

OMIM:259680 Chronic recurrent multifocal osteomyelitis

ORPHA:70591 Chronic thromboembolic pulmonary hypertension

ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency

ORPHA:263463 CHST3-related skeletal dysplasia

OMIM:604213 Chudley-Mccullough syndrome

ORPHA:71 Chylomicron retention disease

ORPHA:435651 CIDEC-related familial partial lipodystrophy

OMIM:242670 Ciliary dyskinesia with defective radial spokes

OMIM:244400 Ciliary dyskinesia, primary, 1

OMIM:612518 Ciliary dyskinesia, primary, 10

OMIM:612649 Ciliary dyskinesia, primary, 11

OMIM:612650 Ciliary dyskinesia, primary, 12

OMIM:613193 Ciliary dyskinesia, primary, 13

OMIM:613807 Ciliary dyskinesia, primary, 14

OMIM:613808 Ciliary dyskinesia, primary, 15

OMIM:614017 Ciliary dyskinesia, primary, 16

OMIM:614679 Ciliary dyskinesia, primary, 17

OMIM:614874 Ciliary dyskinesia, primary, 18

OMIM:614935 Ciliary dyskinesia, primary, 19

OMIM:606763 Ciliary dyskinesia, primary, 2

OMIM:615067 Ciliary dyskinesia, primary, 20

OMIM:615294 Ciliary dyskinesia, primary, 21

OMIM:615444 Ciliary dyskinesia, primary, 22

OMIM:615451 Ciliary dyskinesia, primary, 23

OMIM:615481 Ciliary dyskinesia, primary, 24

OMIM:615482 Ciliary dyskinesia, primary, 25

OMIM:615500 Ciliary dyskinesia, primary, 26

OMIM:615504 Ciliary dyskinesia, primary, 27

OMIM:615505 Ciliary dyskinesia, primary, 28

OMIM:608644 Ciliary dyskinesia, primary, 3, with or without situs inversus

OMIM:616037 Ciliary dyskinesia, primary, 30

OMIM:616481 Ciliary dyskinesia, primary, 32

OMIM:617091 Ciliary dyskinesia, primary, 34

OMIM:617092 Ciliary dyskinesia, primary, 35

OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked

OMIM:618063 Ciliary dyskinesia, primary, 38

OMIM:618300 Ciliary dyskinesia, primary, 40

OMIM:618449 Ciliary dyskinesia, primary, 41

OMIM:618695 Ciliary dyskinesia, primary, 42

OMIM:618699 Ciliary dyskinesia, primary, 43

OMIM:618781 Ciliary dyskinesia, primary, 44

OMIM:619436 Ciliary dyskinesia, primary, 46

OMIM:620032 Ciliary dyskinesia, primary, 48, without situs inversus

OMIM:610852 Ciliary dyskinesia, primary, 6

OMIM:612444 Ciliary dyskinesia, primary, 9, with or without situs inversus

OMIM:619273 Cimdag syndrome

ORPHA:1451 CINCA syndrome

OMIM:607115 Cinca syndrome

ORPHA:69744 Circumscribed palmoplantar hypokeratosis

OMIM:215550 Circumvallate placenta syndrome

ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:247525 Citrullinemia type I

ORPHA:251383 CK syndrome

OMIM:300831 Ck syndrome

ORPHA:168984 CLAPO syndrome

OMIM:300602 Clark-Baraitser syndrome

ORPHA:79239 Classic galactosemia

ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome

ORPHA:391 Classic Hodgkin lymphoma

ORPHA:394 Classic homocystinuria

ORPHA:324604 Classic multiminicore myopathy

ORPHA:216866 Classic pantothenate kinase-associated neurodegeneration

ORPHA:79254 Classic phenylketonuria

ORPHA:240071 Classic progressive supranuclear palsy syndrome

ORPHA:287 Classical Ehlers-Danlos syndrome

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

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

ORPHA:485350 CLCN4-related X-linked intellectual disability syndrome

ORPHA:141291 Cleft lip and alveolus

ORPHA:1991 Cleft lip with or without cleft palate

ORPHA:199306 Cleft lip/palate

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

OMIM:601165 Cleft lip/palate with characteristic facies, intestinal malrotation,and lethal congenital heart disease

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

ORPHA:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

OMIM:600460 Cleft palate, cardiac defect, genital anomalies, and ectrodactyly

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

OMIM:216300 Cleft palate, deafness, and oligodontia

OMIM:119540 Cleft palate, isolated

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

ORPHA:2016 Cleft palate-lateral synechia syndrome

ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:99772 Cleft velum

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

OMIM:215850 Cleft-Limb-Heart malformation syndrome

ORPHA:1452 Cleidocranial dysplasia

OMIM:119600 Cleidocranial dysplasia

OMIM:216330 Cleidocranial dysplasia, recessive form

ORPHA:1453 Cleidorhizomelic syndrome

OMIM:119650 Cleidorhizomelic syndrome

ORPHA:228346 CLN3 disease

ORPHA:228360 CLN5 disease

ORPHA:93929 Cloacal exstrophy

ORPHA:93267 Cloverleaf skull-multiple congenital anomalies syndrome

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

ORPHA:163681 CNTNAP2-related developmental and epileptic encephalopathy

OMIM:216360 Coach syndrome 1

OMIM:619113 COACH syndrome 3

ORPHA:397725 COASY protein-associated neurodegeneration

ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:1911 Cocaine embryofetopathy

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

ORPHA:1458 CODAS syndrome

OMIM:600373 CODAS syndrome

OMIM:607426 Coenzyme Q10 deficiency, primary, 1

OMIM:614651 Coenzyme Q10 deficiency, primary, 2

OMIM:614652 Coenzyme Q10 deficiency, primary, 3

OMIM:612016 Coenzyme Q10 deficiency, primary, 4

OMIM:614654 Coenzyme Q10 deficiency, primary, 5

OMIM:616276 Coenzyme Q10 deficiency, primary, 7

OMIM:616733 Coenzyme Q10 deficiency, primary, 8

OMIM:619028 Coenzyme Q10 deficiency, primary, 9

ORPHA:192 Coffin-Lowry syndrome

OMIM:303600 Coffin-Lowry syndrome

ORPHA:1465 Coffin-Siris syndrome

OMIM:135900 Coffin-Siris syndrome 1

OMIM:618506 Coffin-Siris syndrome 10

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:617808 Coffin-siris syndrome 6

OMIM:618027 Coffin-Siris syndrome 7

OMIM:618362 Coffin-Siris syndrome 8

OMIM:615866 Coffin-Siris syndrome 9

ORPHA:1466 COFS syndrome

ORPHA:263508 COG1-CDG

ORPHA:435934 COG2-CDG

ORPHA:263501 COG4-CDG

ORPHA:263487 COG5-CDG

ORPHA:79333 COG7-CDG

ORPHA:95428 COG8-CDG

OMIM:614306 Cognitive impairment with or without cerebellar ataxia

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:56425 Cold agglutinin disease

OMIM:610313 Cold-Induced sweating syndrome 2

OMIM:615522 Cole disease

ORPHA:2050 Cole-Carpenter syndrome

OMIM:112240 Cole-Carpenter syndrome 1

OMIM:616294 Cole-Carpenter syndrome 2

OMIM:216800 Coloboma of macula and skeletal anomalies

OMIM:120400 Coloboma of macula with type B brachydactyly

ORPHA:1471 Coloboma of macula-brachydactyly type B syndrome

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

ORPHA:1198 Colonic atresia

OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria

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:221139 Combined immunodeficiency with faciooculoskeletal anomalies

OMIM:312863 Combined immunodeficiency, X-linked

ORPHA:436252 Combined immunodeficiency-enteropathy spectrum

ORPHA:289504 Combined malonic and methylmalonic acidemia

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

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

ORPHA:319514 Combined oxidative phosphorylation defect type 13

ORPHA:444013 Combined oxidative phosphorylation defect type 23

ORPHA:477774 Combined oxidative phosphorylation defect type 27

ORPHA:478029 Combined oxidative phosphorylation defect type 29

ORPHA:565624 Combined oxidative phosphorylation defect type 39

ORPHA:254930 Combined oxidative phosphorylation defect type 7

OMIM:609060 Combined oxidative phosphorylation deficiency 1

OMIM:614702 Combined oxidative phosphorylation deficiency 10

OMIM:614922 Combined oxidative phosphorylation deficiency 11

OMIM:614924 Combined oxidative phosphorylation deficiency 12

OMIM:614932 Combined oxidative phosphorylation deficiency 13

OMIM:614946 Combined oxidative phosphorylation deficiency 14

OMIM:614947 Combined oxidative phosphorylation deficiency 15

OMIM:615395 Combined oxidative phosphorylation deficiency 16

OMIM:615440 Combined oxidative phosphorylation deficiency 17

OMIM:615578 Combined oxidative phosphorylation deficiency 18

OMIM:615595 Combined oxidative phosphorylation deficiency 19

OMIM:610498 Combined oxidative phosphorylation deficiency 2

OMIM:615917 Combined oxidative phosphorylation deficiency 20

OMIM:615918 Combined oxidative phosphorylation deficiency 21

OMIM:616045 Combined oxidative phosphorylation deficiency 22

OMIM:616198 Combined oxidative phosphorylation deficiency 23

OMIM:616239 Combined oxidative phosphorylation deficiency 24

OMIM:616430 Combined oxidative phosphorylation deficiency 25

OMIM:616672 Combined oxidative phosphorylation deficiency 27

OMIM:616794 Combined oxidative phosphorylation deficiency 28

OMIM:616811 Combined oxidative phosphorylation deficiency 29

OMIM:610505 Combined oxidative phosphorylation deficiency 3

OMIM:616974 Combined oxidative phosphorylation deficiency 30

OMIM:617228 Combined oxidative phosphorylation deficiency 31

OMIM:617664 Combined oxidative phosphorylation deficiency 32

OMIM:617713 Combined oxidative phosphorylation deficiency 33

OMIM:617873 Combined oxidative phosphorylation deficiency 35

OMIM:617950 Combined oxidative phosphorylation deficiency 36

OMIM:618329 Combined oxidative phosphorylation deficiency 37

OMIM:618378 Combined oxidative phosphorylation deficiency 38

OMIM:618397 Combined oxidative phosphorylation deficiency 39

OMIM:610678 Combined oxidative phosphorylation deficiency 4

OMIM:618851 Combined oxidative phosphorylation deficiency 43

OMIM:618855 Combined oxidative phosphorylation deficiency 44

OMIM:618951 Combined oxidative phosphorylation deficiency 45

OMIM:618958 Combined oxidative phosphorylation deficiency 47

OMIM:619012 Combined oxidative phosphorylation deficiency 48

OMIM:619024 Combined oxidative phosphorylation deficiency 49

OMIM:611719 Combined oxidative phosphorylation deficiency 5

OMIM:619025 Combined oxidative phosphorylation deficiency 50

OMIM:619057 Combined oxidative phosphorylation deficiency 51

OMIM:619386 Combined oxidative phosphorylation deficiency 52

OMIM:619423 Combined oxidative phosphorylation deficiency 53

OMIM:619737 Combined oxidative phosphorylation deficiency 54

OMIM:619743 Combined oxidative phosphorylation deficiency 55

OMIM:300816 Combined oxidative phosphorylation deficiency 6

OMIM:613559 Combined oxidative phosphorylation deficiency 7

OMIM:614096 Combined oxidative phosphorylation deficiency 8

ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms

OMIM:611721 Combined saposin deficiency

ORPHA:1572 Common variable immunodeficiency

OMIM:614379 Complement component 4B deficiency

OMIM:216950 Complement component c1r deficiency

OMIM:610984 Complement factor I deficiency

OMIM:226300 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy

ORPHA:83452 Complex regional pain syndrome

ORPHA:3216 Conductive deafness-malformed external ear syndrome

ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome

OMIM:614500 Cone-Rod dystrophy 16

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:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

ORPHA:79 Congenital alpha2-antiplasmin deficiency

ORPHA:210122 Congenital alveolar capillary dysplasia

ORPHA:3319 Congenital amegakaryocytic thrombocytopenia

ORPHA:86816 Congenital analbuminemia

OMIM:143400 Congenital anomalies of kidney and urinary tract 2

OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

ORPHA:3093 Congenital aortic valve stenosis

OMIM:611890 Congenital arthrogryposis with anterior horn cell disease

ORPHA:1195 Congenital atransferrinemia

ORPHA:79301 Congenital bile acid synthesis defect type 1

ORPHA:79303 Congenital bile acid synthesis defect type 2

ORPHA:79095 Congenital bile acid synthesis defect type 4

ORPHA:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome

ORPHA:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

ORPHA:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

OMIM:604168 Congenital cataracts, facial dysmorphism, and neuropathy

OMIM:614482 Congenital cataracts, hearing loss, and neurodegeneration

ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome

ORPHA:512260 Congenital cerebellar ataxia due to RNU12 mutation

ORPHA:115 Congenital contractural arachnodactyly

OMIM:616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay

ORPHA:2140 Congenital diaphragmatic hernia

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:618324 Congenital disorder of glycosylation with defective fucosylation 2

OMIM:619493 Congenital disorder of glycosylation, type 2V

OMIM:212065 Congenital disorder of glycosylation, type Ia

OMIM:617082 Congenital disorder of glycosylation, type IAA

OMIM:602579 Congenital disorder of glycosylation, type Ib

OMIM:603147 Congenital disorder of glycosylation, type Ic

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:607143 Congenital disorder of glycosylation, type Ig

OMIM:608104 Congenital disorder of glycosylation, type Ih

OMIM:607906 Congenital disorder of glycosylation, type Ii

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:607091 Congenital disorder of glycosylation, type IID

OMIM:608779 Congenital disorder of glycosylation, type IIe

OMIM:603585 Congenital disorder of glycosylation, type IIf

OMIM:611209 Congenital disorder of glycosylation, type IIg

OMIM:611182 Congenital disorder of glycosylation, type IIh

OMIM:613612 Congenital disorder of glycosylation, type IIi

OMIM:613489 Congenital disorder of glycosylation, type IIj

OMIM:614727 Congenital disorder of glycosylation, type IIK

OMIM:614576 Congenital disorder of glycosylation, type IIl

OMIM:300896 Congenital disorder of glycosylation, type IIm

OMIM:616721 Congenital disorder of glycosylation, type IIN

OMIM:616828 Congenital disorder of glycosylation, type IIO

OMIM:616829 Congenital disorder of glycosylation, type IIP

OMIM:617395 Congenital disorder of glycosylation, type IIq

OMIM:301045 Congenital disorder of glycosylation, type IIr

OMIM:618885 Congenital disorder of glycosylation, type IIt

OMIM:619525 Congenital disorder of glycosylation, type IIw

OMIM:608093 Congenital disorder of glycosylation, type Ij

OMIM:608540 Congenital disorder of glycosylation, type Ik

OMIM:608776 Congenital disorder of glycosylation, type Il

OMIM:610768 Congenital disorder of glycosylation, type Im

OMIM:612015 Congenital disorder of glycosylation, type IN

OMIM:613661 Congenital disorder of glycosylation, type Ip

OMIM:612379 Congenital disorder of glycosylation, type IQ

OMIM:614507 Congenital disorder of glycosylation, type IR

OMIM:614921 Congenital disorder of glycosylation, type It

OMIM:615042 Congenital disorder of glycosylation, type Iu

OMIM:615596 Congenital disorder of glycosylation, type Iw

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

OMIM:615597 Congenital disorder of glycosylation, type Ix

OMIM:300934 Congenital disorder of glycosylation, type Iy

ORPHA:79277 Congenital erythropoietic porphyria

ORPHA:325 Congenital factor II deficiency

ORPHA:326 Congenital factor V deficiency

ORPHA:327 Congenital factor VII deficiency

ORPHA:328 Congenital factor X deficiency

ORPHA:329 Congenital factor XI deficiency

ORPHA:331 Congenital factor XIII deficiency

ORPHA:2020 Congenital fiber-type disproportion myopathy

ORPHA:335 Congenital fibrinogen deficiency

ORPHA:528 Congenital generalized lipodystrophy

ORPHA:99095 Congenital Gerbode defect

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:217085 Congenital heart defects, hamartomas of tongue, and polysyndactyly

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

OMIM:308050 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

ORPHA:293 Congenital herpes simplex virus infection

ORPHA:2185 Congenital hydrocephalus

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:453510 Congenital insensitivity to pain with severe intellectual disability

ORPHA:1229 Congenital intrauterine infection-like syndrome

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

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

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:98905 Congenital multicore myopathy with external ophthalmoplegia

ORPHA:157973 Congenital muscular dystrophy due to LMNA mutation

ORPHA:370959 Congenital muscular dystrophy with cerebellar involvement

ORPHA:370968 Congenital muscular dystrophy with intellectual disability

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

ORPHA:370980 Congenital muscular dystrophy without intellectual disability

ORPHA:272 Congenital muscular dystrophy, Fukuyama type

ORPHA:75840 Congenital muscular dystrophy, Ullrich type

ORPHA:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

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

ORPHA:590 Congenital myasthenic syndrome

ORPHA:353327 Congenital myasthenic syndromes with glycosylation defect

ORPHA:424107 Congenital myopathy with myasthenic-like onset

ORPHA:168486 Congenital neuronal ceroid lipofuscinosis

ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:295036 Congenital patella dislocation

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:66630 Congenital pseudoarthrosis of the clavicle

ORPHA:91411 Congenital ptosis

ORPHA:3269 Congenital radioulnar synostosis

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:95459 Congenital tricuspid stenosis

ORPHA:92050 Congenital tufting enteropathy

ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris

ORPHA:291 Congenital varicella syndrome

ORPHA:178382 Congenital vertical talus

ORPHA:216694 Congenitally corrected transposition of the great arteries

ORPHA:420794 Cono-spondylar dysplasia

OMIM:217095 Conotruncal heart malformations

OMIM:217100 Constricting bands, congenital

OMIM:121050 Contractural arachnodactyly, congenital

OMIM:217150 Contractures, congenital, torticollis, and malignant hyperthermia

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

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

ORPHA:436003 Contractures-developmental delay-Pierre Robin syndrome

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

ORPHA:1487 Cooks syndrome

ORPHA:1488 Cooper-Jabs syndrome

OMIM:121300 Coproporphyria

OMIM:121350 Coracoclavicular joint, anomalous

OMIM:602082 Corneal dystrophy of bowman layer, type II

OMIM:609141 Corneal dystrophy, posterior polymorphous, 3

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

OMIM:122450 Corneal hypesthesia, familial

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

OMIM:610947 Coronary artery disease, autosomal dominant 2

ORPHA:2508 Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:1496 Corpus callosum agenesis-neuronopathy 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:300472 Corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia

OMIM:304100 Corpus callosum, partial agenesis of, X-linked

ORPHA:1389 Cortical blindness-intellectual disability-polydactyly syndrome

OMIM:604922 Cortical defects, wormian bones, and dentinogenesis imperfecta

ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

OMIM:614039 Cortical dysplasia, complex, with other brain malformations 1

OMIM:618677 Cortical dysplasia, complex, with other brain malformations 10

OMIM:615282 Cortical dysplasia, complex, with other brain malformations 2

OMIM:615411 Cortical dysplasia, complex, with other brain malformations 3

OMIM:615412 Cortical dysplasia, complex, with other brain malformations 4

OMIM:615763 Cortical dysplasia, complex, with other brain malformations 5

OMIM:615771 Cortical dysplasia, complex, with other brain malformations 6

OMIM:610031 Cortical dysplasia, complex, with other brain malformations 7

OMIM:618174 Cortical dysplasia, complex, with other brain malformations 9

ORPHA:454887 Corticobasal syndrome

OMIM:611489 Corticosteroid-binding globulin deficiency

OMIM:614662 Cortisone reductase deficiency 2

OMIM:218040 Costello syndrome

ORPHA:3071 Costello syndrome

OMIM:122580 Costocoracoid ligament, congenitally short

OMIM:260660 Cousin syndrome

OMIM:310490 Cowchock 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

OMIM:122750 Coxa vara

OMIM:122780 Coxoauricular syndrome

ORPHA:1508 Coxoauricular syndrome

ORPHA:1509 Coxopodopatellar syndrome

OMIM:218050 Cramps, familial adolescent

ORPHA:1512 Crane-Heise syndrome

OMIM:218100 Cranial nerves, congenital paresis of

OMIM:218200 Cranial nerves, recurrent paresis of

ORPHA:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement

ORPHA:1525 Cranio-osteoarthropathy

OMIM:122850 Cranioacrofacial syndrome

ORPHA:1513 Craniodiaphyseal dysplasia

OMIM:122860 Craniodiaphyseal dysplasia, autosomal dominant

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:614195 Craniofacial anomalies and anterior segment dysgenesis syndrome

ORPHA:85168 Craniofacial conodysplasia

OMIM:616994 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2

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

OMIM:122900 Craniofacial dysostosis with diaphyseal hyperplasia

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

OMIM:218350 Craniofacial dyssynostosis with short stature

OMIM:122880 Craniofacial-Deafness-Hand syndrome

ORPHA:1529 Craniofacial-deafness-hand syndrome

OMIM:114620 Craniofaciofrontodigital syndrome

ORPHA:363705 Craniofaciofrontodigital syndrome

OMIM:300712 Craniofacioskeletal syndrome

ORPHA:1520 Craniofrontonasal dysplasia

ORPHA:1521 Craniofrontonasal dysplasia-Poland anomaly syndrome

OMIM:304110 Craniofrontonasal syndrome

ORPHA:50814 Craniolenticulosutural dysplasia

OMIM:607812 Craniolenticulosutural dysplasia

OMIM:269300 Craniometadiaphyseal dysplasia

ORPHA:85184 Craniometadiaphyseal dysplasia, wormian bone type

ORPHA:1522 Craniometaphyseal dysplasia

OMIM:123000 Craniometaphyseal dysplasia, autosomal dominant

OMIM:218400 Craniometaphyseal dysplasia, autosomal recessive

ORPHA:54595 Craniopharyngioma

ORPHA:63260 Craniorachischisis

OMIM:123050 CRANIORHINY

OMIM:218450 Craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis

OMIM:123100 Craniosynostosis 1

OMIM:604757 Craniosynostosis 2

OMIM:615314 Craniosynostosis 3

OMIM:600775 Craniosynostosis 4

OMIM:615529 Craniosynostosis 5, susceptibility to

OMIM:616602 Craniosynostosis 6

OMIM:617439 Craniosynostosis 7

OMIM:614188 Craniosynostosis and dental anomalies

OMIM:218530 Craniosynostosis with anomalies of the cranial base and digits

OMIM:218550 Craniosynostosis with fibular aplasia

OMIM:614416 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies

OMIM:600593 Craniosynostosis, Adelaide type

OMIM:608432 Craniosynostosis, calcification of basal ganglia, and facial dysmorphism

ORPHA:2145 Craniosynostosis, Herrmann-Opitz type

ORPHA:1527 Craniosynostosis, Philadelphia type

OMIM:123155 Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus

ORPHA:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

ORPHA:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

OMIM:218650 Craniosynostosis-Mental retardation-clefting syndrome

OMIM:218670 Craniotelencephalic dysplasia

ORPHA:1528 Craniotelencephalic dysplasia

OMIM:619727 Craniotubular dysplasia, Ikegawa type

OMIM:123320 Creatine phosphokinase, elevated serum

OMIM:606851 Cree mental retardation syndrome

OMIM:123400 Creutzfeldt-Jakob disease

OMIM:123450 Cri-Du-Chat syndrome

ORPHA:205 Crigler-Najjar syndrome

ORPHA:79234 Crigler-Najjar syndrome type 1

ORPHA:99827 Crimean-Congo hemorrhagic fever

ORPHA:1545 Crisponi syndrome

OMIM:272430 Crisponi/cold-induced sweating syndrome 1

OMIM:617055 Crisponi/cold-Induced sweating syndrome 3

ORPHA:1461 Criss-cross heart

OMIM:218900 Crome syndrome

ORPHA:2930 Cronkhite-Canada syndrome

ORPHA:2935 Crossed polysyndactyly

ORPHA:207 Crouzon syndrome

OMIM:123500 Crouzon syndrome

OMIM:612247 Crouzon syndrome with acanthosis nigricans

ORPHA:93262 Crouzon syndrome-acanthosis nigricans syndrome

ORPHA:91138 Cryoglobulinemic vasculitis

ORPHA:1546 Cryptococcosis

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:615849 Culler-Jones syndrome

ORPHA:1552 Currarino syndrome

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

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

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

ORPHA:306692 Cyanide-induced parkinsonism-dystonia

OMIM:219400 Cyanosis and hepatic disease

ORPHA:2686 Cyclic neutropenia

OMIM:500007 Cyclic vomiting syndrome

OMIM:123880 Cystic angiomatosis of bone, diffuse

ORPHA:400 Cystic echinococcosis

ORPHA:586 Cystic fibrosis

OMIM:219700 Cystic fibrosis

OMIM:219721 Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation

ORPHA:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome

ORPHA:1560 Cysticercosis

ORPHA:213 Cystinosis

OMIM:219900 Cystinosis, late-onset juvenile or adolescent nephropathic

OMIM:219800 Cystinosis, nephropathic

OMIM:609162 Czech dysplasia, Metatarsal type

ORPHA:2437 Czeizel-Losonci syndrome

Référentiel des examens de génétique

Code Aire thérapeutique (HPO) :

Panel «Abnormality of the musculoskeletal system» :

Panel par pathologie associée :