Liste des examens
Abnormality of head or neck
Code Aire thérapeutique (HPO) :
HP:0000152Panel «Abnormality of head or neck» :
PrescrirePanel par pathologie associée :
- #
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
Code pathologie
Nom de la pathologie
- ORPHA:276413 10q22.3q23.3 microdeletion syndrome
- ORPHA:276422 10q22.3q23.3 microduplication syndrome
- ORPHA:300305 11p15.4 microduplication syndrome
- ORPHA:444002 11q22.2q22.3 microdeletion syndrome
- ORPHA:94063 12q14 microdeletion syndrome
- ORPHA:412035 13q12.3 microdeletion syndrome
- ORPHA:261120 14q11.2 microdeletion syndrome
- ORPHA:264200 14q22q23 microdeletion syndrome
- ORPHA:401935 14q24.1q24.3 microdeletion syndrome
- ORPHA:314585 15q overgrowth syndrome
- ORPHA:261183 15q11.2 microdeletion syndrome
- ORPHA:238446 15q11q13 microduplication syndrome
- ORPHA:199318 15q13.3 microdeletion syndrome
- ORPHA:261190 15q14 microdeletion syndrome
- ORPHA:94065 15q24 microdeletion syndrome
- ORPHA:261211 16p11.2p12.2 microdeletion syndrome
- ORPHA:261204 16p11.2p12.2 microduplication syndrome
- ORPHA:485405 16p12.1p12.3 triplication syndrome
- ORPHA:261236 16p13.11 microdeletion syndrome
- ORPHA:261243 16p13.11 microduplication syndrome
- ORPHA:500055 16p13.2 microdeletion syndrome
- ORPHA:261250 16q24.3 microdeletion syndrome
- ORPHA:1713 17p11.2 microduplication syndrome
- ORPHA:217385 17p13.3 microduplication syndrome
- ORPHA:97685 17q11 microdeletion syndrome
- ORPHA:139474 17q11.2 microduplication syndrome
- ORPHA:261265 17q12 microdeletion syndrome
- ORPHA:261272 17q12 microduplication syndrome
- ORPHA:363958 17q21.31 microdeletion syndrome
- ORPHA:217340 17q21.31 microduplication syndrome
- ORPHA:261279 17q23.1q23.2 microdeletion syndrome
- ORPHA:529962 17q24.2 microdeletion syndrome
- ORPHA:254346 19p13.12 microdeletion syndrome
- ORPHA:357001 19p13.13 microdeletion syndrome
- ORPHA:447980 19p13.3 microduplication syndrome
- ORPHA:217346 19q13.11 microdeletion syndrome
- ORPHA:293948 1p21.3 microdeletion syndrome
- ORPHA:401986 1p31p32 microdeletion syndrome
- ORPHA:1606 1p36 deletion syndrome
- ORPHA:250989 1q21.1 microdeletion syndrome
- ORPHA:250994 1q21.1 microduplication syndrome
- ORPHA:250999 1q41q42 microdeletion syndrome
- ORPHA:238769 1q44 microdeletion syndrome
- OMIM:616034 2,4-Dienoyl-Coa reductase deficiency
- OMIM:610006 2-Methylbutyryl-Coa dehydrogenase deficiency
- ORPHA:261295 20p12.3 microdeletion syndrome
- ORPHA:313781 20p13 microdeletion syndrome
- ORPHA:444051 20q11.2 microdeletion syndrome
- ORPHA:363659 20q11.2 microduplication syndrome
- ORPHA:261311 20q13.33 microdeletion syndrome
- ORPHA:261323 21q22.11q22.12 microdeletion syndrome
- ORPHA:567 22q11.2 deletion syndrome
- ORPHA:1727 22q11.2 duplication syndrome
- ORPHA:261349 2p15p16.1 microdeletion syndrome
- ORPHA:163693 2p21 microdeletion syndrome
- ORPHA:228402 2q23.1 microdeletion syndrome
- ORPHA:313947 2q23.1 microduplication syndrome
- ORPHA:1617 2q24 microdeletion syndrome
- ORPHA:251014 2q31.1 microdeletion syndrome
- ORPHA:251019 2q32q33 microdeletion syndrome
- ORPHA:1001 2q37 microdeletion syndrome
- ORPHA:20 3-hydroxy-3-methylglutaric aciduria
- OMIM:246450 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency
- ORPHA:939 3-hydroxyisobutyric aciduria
- OMIM:236795 3-hydroxyisobutyric aciduria
- OMIM:250620 3-Hydroxyisobutyryl-Coa hydrolase deficiency
- OMIM:273750 3-M syndrome 1
- OMIM:612921 3-M syndrome 2
- OMIM:614205 3-M syndrome 3
- ORPHA:67046 3-methylglutaconic aciduria type 1
- ORPHA:67048 3-methylglutaconic aciduria type 4
- ORPHA:445038 3-methylglutaconic aciduria type 7
- OMIM:616271 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
- OMIM:614739 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
- OMIM:617698 3-methylglutaconic aciduria, type IX
- OMIM:619835 3-methylglutaconic aciduria, type VIIA, autosomal dominant
- OMIM:617248 3-methylglutaconic aciduria, type VIII
- ORPHA:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- ORPHA:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- ORPHA:7 3C syndrome
- ORPHA:2616 3M syndrome
- ORPHA:293843 3MC syndrome
- OMIM:257920 3mc syndrome 1
- OMIM:265050 3mc syndrome 2
- OMIM:248340 3MC syndrome 3
- ORPHA:435638 3p25.3 microdeletion syndrome
- ORPHA:1621 3q13 microdeletion syndrome
- ORPHA:397695 3q27.3 microdeletion syndrome
- ORPHA:65286 3q29 microdeletion syndrome
- ORPHA:251038 3q29 microduplication syndrome
- ORPHA:8 47,XYY syndrome
- ORPHA:96263 48,XXXY syndrome
- ORPHA:10 48,XXYY syndrome
- ORPHA:99329 48,XYYY syndrome
- ORPHA:96264 49,XXXXY syndrome
- ORPHA:261534 49,XXXYY syndrome
- ORPHA:99330 49,XYYYY syndrome
- ORPHA:289494 4H leukodystrophy
- ORPHA:238750 4q21 microdeletion syndrome
- ORPHA:228384 5q14.3 microdeletion syndrome
- ORPHA:228415 5q35 microduplication syndrome
- ORPHA:13 6-pyruvoyl-tetrahydropterin synthase deficiency
- ORPHA:251046 6p22 microdeletion syndrome
- ORPHA:75857 6q terminal deletion syndrome
- ORPHA:171829 6q16 microdeletion syndrome
- ORPHA:251056 6q25 microdeletion syndrome
- ORPHA:314034 7p22.1 microduplication syndrome
- ORPHA:96121 7q11.23 microduplication syndrome
- ORPHA:96092 8p inverted duplication/deletion syndrome
- ORPHA:251066 8p11.2 deletion syndrome
- ORPHA:251076 8p23.1 duplication syndrome
- ORPHA:251071 8p23.1 microdeletion syndrome
- ORPHA:228399 8q12 microduplication syndrome
- ORPHA:284160 8q21.11 microdeletion syndrome
- ORPHA:178303 8q22.1 microdeletion syndrome
- ORPHA:508488 8q24.3 microdeletion syndrome
- ORPHA:324313 9p13 microdeletion syndrome
- ORPHA:531151 9q21.13 microdeletion syndrome
- ORPHA:401923 9q31.1q31.3 microdeletion syndrome
- ORPHA:495818 9q33.3q34.11 microdeletion syndrome
Code pathologie
Nom de la pathologie
- ORPHA:85445 AA amyloidosis
- OMIM:100050 Aarskog syndrome, autosomal dominant
- OMIM:305400 Aarskog-Scott syndrome
- ORPHA:915 Aarskog-Scott syndrome
- ORPHA:916 Aase-Smith syndrome
- OMIM:147800 Aase-Smith syndrome I
- OMIM:600501 ABCD syndrome
- ORPHA:14 Abetalipoproteinemia
- ORPHA:920 Ablepharon macrostomia syndrome
- OMIM:200110 Ablepharon-Macrostomia syndrome
- OMIM:261990 Abnormal hair, joint laxity, and developmental delay
- ORPHA:921 Abruzzo-Erickson syndrome
- OMIM:200130 Absent eyebrows and eyelashes with mental retardation
- ORPHA:945 Acalvaria
- ORPHA:926 Acatalasemia
- OMIM:614097 Acatalasemia
- OMIM:619959 ACCES syndrome
- OMIM:604290 ACERULOPLASMINEMIA
- ORPHA:48818 Aceruloplasminemia
- OMIM:200400 Achalasia, familial esophageal
- OMIM:231550 Achalasia-Addisonianism-Alacrima syndrome
- ORPHA:929 Achalasia-microcephaly syndrome
- OMIM:200450 Achalasia-Microcephaly syndrome
- OMIM:100700 Achard syndrome
- ORPHA:932 Achondrogenesis
- ORPHA:93299 Achondrogenesis type 1A
- ORPHA:93298 Achondrogenesis type 1B
- ORPHA:93296 Achondrogenesis type 2
- OMIM:200600 Achondrogenesis, type IA
- OMIM:600972 Achondrogenesis, type IB
- OMIM:200610 Achondrogenesis, type II
- OMIM:100800 Achondroplasia
- ORPHA:15 Achondroplasia
- OMIM:616482 Achondroplasia, severe, with developmental delay and acanthosis nigricans
- ORPHA:40366 Acitretin/etretinate embryopathy
- OMIM:200970 Ackerman syndrome
- ORPHA:2221 Acquired hypertrichosis lanuginosa
- ORPHA:99147 Acquired von Willebrand syndrome
- ORPHA:958 Acro-renal-mandibular syndrome
- ORPHA:959 Acro-renal-ocular syndrome
- OMIM:200990 Acrocallosal syndrome
- ORPHA:36 Acrocallosal syndrome
- OMIM:607778 Acrocapitofemoral dysplasia
- ORPHA:63446 Acrocapitofemoral dysplasia
- ORPHA:2008 Acrocardiofacial syndrome
- OMIM:200995 Acrocephalopolydactylous dysplasia
- ORPHA:221054 Acrocephalopolydactyly
- OMIM:201020 Acrocephalopolysyndactyly type IV
- OMIM:201050 Acrocraniofacial dysostosis
- ORPHA:949 Acrocraniofacial dysostosis
- ORPHA:37 Acrodermatitis enteropathica
- OMIM:201100 Acrodermatitis enteropathica, Zinc-Deficiency type
- ORPHA:950 Acrodysostosis
- OMIM:101800 Acrodysostosis 1, with or without hormone resistance
- OMIM:614613 Acrodysostosis 2 with or without hormone resistance
- ORPHA:280651 Acrodysostosis with multiple hormone resistance
- OMIM:154400 Acrofacial dysostosis 1, Nager type
- OMIM:201170 Acrofacial dysostosis syndrome of rodriguez
- OMIM:101805 Acrofacial dysostosis, Catania type
- ORPHA:1786 Acrofacial dysostosis, Catania type
- OMIM:616462 Acrofacial dysostosis, Cincinnati type
- ORPHA:1787 Acrofacial dysostosis, Palagonia type
- OMIM:601829 Acrofacial dysostosis, Palagonia type
- ORPHA:1788 Acrofacial dysostosis, Rodríguez type
- ORPHA:952 Acrofacial dysostosis, Weyers type
- ORPHA:1784 Acrofrontofacionasal dysostosis
- OMIM:201180 Acrofrontofacionasal dysostosis 1
- OMIM:239710 Acrofrontofacionasal dysostosis 2
- ORPHA:2500 Acrogeria
- OMIM:102100 Acromegaloid changes, cutis verticis gyrata, and corneal leukoma
- OMIM:102150 Acromegaloid facial appearance syndrome
- ORPHA:963 Acromegaly
- OMIM:603671 Acromelic frontonasal dysostosis
- ORPHA:1827 Acromelic frontonasal dysplasia
- OMIM:619636 Acromesomelic dysplasia 4
- ORPHA:40 Acromesomelic dysplasia, Maroteaux type
- OMIM:602875 Acromesomelic dysplasia, Maroteaux type
- ORPHA:969 Acromicric dysplasia
- OMIM:102370 Acromicric dysplasia
- ORPHA:2980 Acrootoocular syndrome
- ORPHA:957 Acropectorovertebral dysplasia
- ORPHA:971 Acrorenal syndrome
- OMIM:200980 Acrorenal-Mandibular syndrome
- OMIM:219080 ACTH-independent macronodular adrenal hyperplasia
- OMIM:615954 ACTH-independent macronodular adrenal hyperplasia 2
- OMIM:174770 Actinic prurigo
- ORPHA:529799 Acute bilirubin encephalopathy
- ORPHA:83597 Acute disseminated encephalomyelitis
- ORPHA:98916 Acute inflammatory demyelinating polyradiculoneuropathy
- ORPHA:514 Acute monoblastic/monocytic leukemia
- ORPHA:517 Acute myelomonocytic leukemia
- ORPHA:520 Acute promyelocytic leukemia
- ORPHA:139417 Acute transverse myelitis
- OMIM:201470 Acyl-Coa dehydrogenase, short-chain, deficiency of
- ORPHA:974 Adams-Oliver syndrome
- OMIM:100300 Adams-Oliver syndrome 1
- OMIM:614219 Adams-Oliver syndrome 2
- OMIM:614814 Adams-Oliver syndrome 3
- OMIM:616589 Adams-Oliver syndrome 6
- OMIM:201550 Adducted thumbs syndrome
- OMIM:175100 Adenomatous polyposis coli
- OMIM:103050 Adenylosuccinase deficiency
- ORPHA:46 Adenylosuccinate lyase deficiency
- ORPHA:482601 Adenylosuccinate synthetase-like 1-related distal myopathy
- ORPHA:36397 Adiposis dolorosa
- ORPHA:404448 ADNP syndrome
- ORPHA:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion
- ORPHA:139399 Adrenomyeloneuropathy
- ORPHA:2688 Adult idiopathic neutropenia
- ORPHA:978 ADULT syndrome
- OMIM:103285 Adult syndrome
- ORPHA:284289 Adult-onset autosomal recessive cerebellar ataxia
- ORPHA:420492 Adult-onset cervical dystonia, DYT23 type
- ORPHA:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329478 Adult-onset distal myopathy due to VCP mutation
- ORPHA:199351 Adult-onset dystonia-parkinsonism
- ORPHA:171442 Adult-onset nemaline myopathy
- ORPHA:829 Adult-onset Still disease
- OMIM:202400 Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included
- ORPHA:3385 African trypanosomiasis
- OMIM:601495 Agammaglobulinemia 1, autosomal recessive
- OMIM:619707 Agammaglobulinemia 10, autosomal dominant
- OMIM:613501 Agammaglobulinemia 3, autosomal recessive
- OMIM:613502 Agammaglobulinemia 4, autosomal recessive
- OMIM:613506 Agammaglobulinemia 5, autosomal dominant
- OMIM:612692 Agammaglobulinemia 6, autosomal recessive
- OMIM:619824 Agammaglobulinemia 8B, autosomal recessive
- OMIM:300755 Agammaglobulinemia, X-linked
- ORPHA:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:85448 AGel amyloidosis
- OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- OMIM:613623 Agenesis of the corpus callosum and congenital lymphedema
- OMIM:218000 Agenesis of the corpus callosum with peripheral neuropathy
- ORPHA:990 Agnathia-holoprosencephaly-situs inversus syndrome
- OMIM:202650 Agnathia-Otocephaly complex
- ORPHA:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- ORPHA:250977 AICA-ribosiduria
- OMIM:608688 Aicar transformylase/imp cyclohydrolase deficiency
- ORPHA:50 Aicardi syndrome
- OMIM:304050 Aicardi syndrome
- ORPHA:51 Aicardi-Goutières syndrome
- OMIM:225750 Aicardi-Goutieres syndrome 1
- OMIM:610181 Aicardi-Goutieres syndrome 2
- OMIM:610329 Aicardi-Goutieres syndrome 3
- OMIM:610333 Aicardi-Goutieres syndrome 4
- OMIM:612952 Aicardi-Goutieres syndrome 5
- OMIM:615010 Aicardi-Goutieres syndrome 6
- OMIM:615846 Aicardi-Goutieres syndrome 7
- OMIM:619487 Aicardi-Goutieres syndrome 9
- ORPHA:85443 AL amyloidosis
- OMIM:617694 Al Kaissi syndrome
- OMIM:609465 Al-Gazali syndrome
- OMIM:607131 Al-Gazali-Bakalinova syndrome
- OMIM:616459 Al-Raqad syndrome
- OMIM:615510 Alacrima, achalasia, and mental retardation syndrome
- OMIM:103420 Alacrima, congenital
- ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome
- ORPHA:52 Alagille syndrome
- OMIM:118450 Alagille syndrome 1
- OMIM:202900 Alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
- ORPHA:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- OMIM:614687 Alar cleft, isolated
- ORPHA:319671 Alazami syndrome
- OMIM:615071 Alazami syndrome
- OMIM:617126 Alazami-Yuan syndrome
- ORPHA:53 Albers-Schönberg osteopetrosis
- ORPHA:58 Alexander disease
- OMIM:203450 Alexander disease
- ORPHA:363717 Alexander disease type I
- ORPHA:79327 ALG1-CDG
- ORPHA:280071 ALG11-CDG
- ORPHA:79324 ALG12-CDG
- ORPHA:324422 ALG13-CDG
- ORPHA:79326 ALG2-CDG
- ORPHA:79321 ALG3-CDG
- ORPHA:79320 ALG6-CDG
- ORPHA:79325 ALG8-CDG
- ORPHA:79328 ALG9-CDG
- ORPHA:56 Alkaptonuria
- OMIM:617822 Alkuraya-Kucinskas syndrome
- ORPHA:59 Allan-Herndon-Dudley syndrome
- OMIM:300523 Allan-Herndon-Dudley syndrome
- ORPHA:93925 Alobar holoprosencephaly
- ORPHA:1006 Alopecia antibody deficiency
- OMIM:610753 Alopecia areata 2
- ORPHA:700 Alopecia totalis
- ORPHA:701 Alopecia universalis
- OMIM:203655 Alopecia universalis congenita
- OMIM:300042 Alopecia, congenital
- OMIM:612079 Alopecia, neurologic defects, and endocrinopathy syndrome
- OMIM:104130 Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality
- OMIM:203550 Alopecia-Contractures-Dwarfism mental retardation syndrome
- ORPHA:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- ORPHA:2850 Alopecia-intellectual disability syndrome
- OMIM:618840 Alopecia-mental retardation syndrome 4
- ORPHA:726 Alpers-Huttenlocher syndrome
- OMIM:204750 Alpha-aminoadipic and alpha-ketoadipic aciduria
- ORPHA:399058 Alpha-B crystallin-related late-onset myopathy
- OMIM:248500 Alpha-mannosidosis
- ORPHA:61 Alpha-mannosidosis
- ORPHA:309288 Alpha-mannosidosis, adult form
- ORPHA:309282 Alpha-mannosidosis, infantile form
- ORPHA:3137 Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:79280 Alpha-N-acetylgalactosaminidase deficiency type 2
- ORPHA:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome
- OMIM:301040 Alpha-Thalassemia/mental retardation syndrome, X-linked
- ORPHA:63 Alport syndrome
- ORPHA:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- OMIM:203800 Alstrom syndrome
- ORPHA:64 Alström syndrome
- ORPHA:2131 Alternating hemiplegia of childhood
- OMIM:265380 Alveolar capillary dysplasia with misalignment of pulmonary veins
- OMIM:619268 Alzahrani-Kuwahara syndrome
- OMIM:104350 Amastia, bilateral, with ureteral triplication and dysmorphism
- OMIM:204110 Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- ORPHA:1021 Amaurosis-hypertrichosis syndrome
- OMIM:619151 AMED syndrome, digenic
- ORPHA:1028 Amelo-onycho-hypohidrotic syndrome
- ORPHA:1946 Amelocerebrohypohidrotic syndrome
- ORPHA:88661 Amelogenesis imperfecta
- OMIM:204700 Amelogenesis imperfecta, hypomaturation type, iia1
- OMIM:612529 Amelogenesis imperfecta, hypomaturation type, iia2
- OMIM:613211 Amelogenesis imperfecta, hypomaturation type, iia3
- OMIM:614832 Amelogenesis imperfecta, hypomaturation type, iia4
- OMIM:615887 Amelogenesis imperfecta, hypomaturation type, iia5
- OMIM:617217 Amelogenesis imperfecta, hypomaturation type, IIA6
- OMIM:301201 Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
- OMIM:104530 Amelogenesis imperfecta, type IA
- OMIM:104500 Amelogenesis imperfecta, type IB
- OMIM:204650 Amelogenesis imperfecta, type IC
- OMIM:301200 Amelogenesis imperfecta, type IE
- OMIM:616270 Amelogenesis imperfecta, type IF
- OMIM:204690 Amelogenesis imperfecta, type IG (enamel-renal syndrome)
- OMIM:616221 Amelogenesis imperfecta, type IH
- OMIM:130900 Amelogenesis imperfecta, type III
- OMIM:617607 Amelogenesis imperfecta, type IIIB
- OMIM:618386 Amelogenesis imperfecta, type IIIC
- OMIM:617297 Amelogenesis imperfecta, type IJ
- OMIM:620104 Amelogenesis imperfecta, type IK
- OMIM:104510 Amelogenesis imperfecta, type IV
- OMIM:104570 Ameloonychohypohidrotic syndrome
- OMIM:104600 Amenorrhea-Galactorrhea syndrome
- ORPHA:3386 American trypanosomiasis
- OMIM:609924 Aminoacylase 1 deficiency
- OMIM:600325 Aminopterin syndrome sine aminopterin
- ORPHA:1908 Aminopterin/methotrexate embryofetopathy
- ORPHA:99742 Amish lethal microcephaly
- OMIM:300194 AMME complex
- ORPHA:68 Amoebiasis due to free-living amoebae
- OMIM:204850 Amyloidosis of gingiva and conjunctiva, with mental retardation
- ORPHA:803 Amyotrophic lateral sclerosis
- OMIM:613435 Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia
- OMIM:205100 Amyotrophic lateral sclerosis 2, juvenile
- OMIM:162100 Amyotrophy, hereditary neuralgic
- ORPHA:142 Anaplastic thyroid carcinoma
- OMIM:607095 Anauxetic dysplasia 1
- OMIM:617396 Anauxetic dysplasia 2
- OMIM:618853 Anauxetic dysplasia 3
- OMIM:170390 Andersen cardiodysrhythmic periodic paralysis
- ORPHA:37553 Andersen-Tawil syndrome
- ORPHA:157954 ANE syndrome
- OMIM:613673 Anemia, dyserythropoietic congenital, type IV
- OMIM:619452 Anencephaly 2
- ORPHA:284984 Aneurysm-osteoarthritis syndrome
- ORPHA:63442 Angel-shaped phalango-epiphyseal dysplasia
- OMIM:105830 Angelman syndrome
- ORPHA:72 Angelman syndrome
- ORPHA:411511 Angelman syndrome due to a point mutation
- ORPHA:411515 Angelman syndrome due to imprinting defect in 15q11-q13
- ORPHA:98794 Angelman syndrome due to maternal 15q11q13 deletion
- ORPHA:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15
- OMIM:106100 Angioedema, hereditary, 1
- OMIM:610618 Angioedema, hereditary, 3
- OMIM:619360 Angioedema, hereditary, 4
- OMIM:619361 Angioedema, hereditary, 5
- OMIM:619363 Angioedema, hereditary, 6
- OMIM:619366 Angioedema, hereditary, 7
- OMIM:619367 Angioedema, hereditary, 8
- ORPHA:2346 Angioosteohypertrophic syndrome
- OMIM:611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
- ORPHA:74 Angiostrongyliasis
- OMIM:206750 Aniridia, partial, with unilateral renal agenesis and psychomotorretardation
- ORPHA:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
- ORPHA:1064 Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:356996 ANK3-related intellectual disability-sleep disturbance syndrome
- OMIM:106250 Ankyloblepharon filiforme adnatum and cleft palate
- ORPHA:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome
- ORPHA:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome
- OMIM:106260 Ankyloblepharon-Ectodermal defects-cleft lip/palate
- ORPHA:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- OMIM:106280 Ankyloglossia with or without tooth anomalies
- ORPHA:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12
- OMIM:206780 Anodontia of permanent dentition
- ORPHA:69125 Anonychia with flexural pigmentation
- ORPHA:1094 Anonychia-microcephaly syndrome
- OMIM:106995 Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges
- ORPHA:1104 Anophthalmia plus syndrome
- ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- OMIM:301700 ANOSMIA
- OMIM:207000 Anosmia for isobutyric acid
- OMIM:107200 Anosmia, congenital
- ORPHA:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita
- OMIM:601427 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- OMIM:601631 Anterior segment dysgenesis 3
- ORPHA:375 Anti-glomerular basement membrane disease
- OMIM:107320 Antiphospholipid syndrome, familial
- ORPHA:81 Antisynthetase syndrome
- ORPHA:83 Antley-Bixler syndrome
- OMIM:201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- OMIM:207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
- OMIM:617168 Aortic aneurysm, familial thoracic 10
- OMIM:619825 Aortic aneurysm, familial thoracic 12
- OMIM:616166 Aortic aneurysm, familial thoracic 9
- OMIM:107500 Aortic arch anomaly with peculiar facies and mental retardation
- ORPHA:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- OMIM:107550 Aortic arch interruption, facial palsy, and retinal coloboma
- ORPHA:247806 APC-related attenuated familial adenomatous polyposis
- OMIM:101200 Apert syndrome
- ORPHA:87 Apert syndrome
- OMIM:600384 Aphalangia, partial, with syndactyly and duplication of metatarsaliv
- ORPHA:1113 Aphalangy-syndactyly-microcephaly syndrome
- ORPHA:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- ORPHA:1114 Aplasia cutis congenita
- OMIM:207731 Aplasia cutis congenita with intestinal lymphangiectasia
- ORPHA:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ORPHA:1117 Aplasia cutis-myopia syndrome
- OMIM:180920 Aplasia of lacrimal and salivary glands
- OMIM:107650 Apnea, obstructive sleep
- ORPHA:425 Apolipoprotein A-I deficiency
- OMIM:601374 Aprosencephaly and cerebellar dysgenesis
- ORPHA:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome
- ORPHA:2356 Arachnoid cyst
- OMIM:616268 Arboleda-Tham syndrome
- OMIM:207780 AREDYLD
- ORPHA:1133 AREDYLD syndrome
- OMIM:243910 Arima syndrome
- ORPHA:268882 Arnold-Chiari malformation type I
- ORPHA:1136 Arnold-Chiari malformation type II
- OMIM:608643 Aromatic L-amino acid decarboxylase deficiency
- ORPHA:1135 Arrhinia-choanal atresia-microphthalmia syndrome
- ORPHA:3342 Arterial tortuosity syndrome
- OMIM:208050 Arterial tortuosity syndrome
- OMIM:208060 Arteriosclerosis, severe juvenile
- ORPHA:1899 Arthrochalasia Ehlers-Danlos syndrome
- OMIM:601701 Arthrogryposis and ectodermal dysplasia
- OMIM:618484 Arthrogryposis multiplex congenita 3, myogenic type
- OMIM:618947 Arthrogryposis multiplex congenita 5
- OMIM:619334 Arthrogryposis multiplex congenita 6
- OMIM:208155 Arthrogryposis multiplex congenita with whistling face
- OMIM:618766 Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
- OMIM:617468 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
- ORPHA:1150 Arthrogryposis multiplex congenita-whistling face syndrome
- OMIM:618265 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- OMIM:108120 Arthrogryposis, distal, type 1A
- OMIM:619110 Arthrogryposis, distal, type 1C
- OMIM:193700 Arthrogryposis, distal, type 2A
- OMIM:601680 Arthrogryposis, distal, type 2B
- OMIM:618435 Arthrogryposis, distal, type 2B2
- OMIM:618436 Arthrogryposis, distal, type 2B3
- OMIM:121070 Arthrogryposis, distal, type 2E
- OMIM:114300 Arthrogryposis, distal, type 3
- OMIM:609128 Arthrogryposis, distal, type 4
- OMIM:108145 Arthrogryposis, distal, type 5
- OMIM:615065 Arthrogryposis, distal, type 5D
- OMIM:158300 Arthrogryposis, distal, type 7
- OMIM:617146 Arthrogryposis, distal, with impaired proprioception and touch
- OMIM:208081 Arthrogryposis, distal, with mental retardation and characteristicfacies
- OMIM:301815 Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
- OMIM:615553 Arthrogryposis, mental retardation, and seizures
- OMIM:614262 Arthrogryposis, perthes disease, and upward gaze palsy
- OMIM:208085 Arthrogryposis, renal dysfunction, and cholestasis 1
- OMIM:613404 Arthrogryposis, renal dysfunction, and cholestasis 2
- ORPHA:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- OMIM:301835 Arts syndrome
- ORPHA:1253 Ascher syndrome
- OMIM:615574 Asparagine synthetase deficiency
- ORPHA:93 Aspartylglucosaminuria
- OMIM:208400 Aspartylglucosaminuria
- ORPHA:1163 Aspergillosis
- OMIM:613091 Asphyxiating thoracic dystrophy 3
- OMIM:208550 Asthma, nasal polyps, and aspirin intolerance
- ORPHA:85175 Astley-Kendall dysplasia
- OMIM:108450 Asymmetric short stature syndrome
- OMIM:277460 Ataxia with isolated vitamin E deficiency
- OMIM:619352 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
- ORPHA:1188 Ataxia-deafness-intellectual disability syndrome
- OMIM:208870 Ataxia-Microcephaly-Cataract syndrome
- ORPHA:1168 Ataxia-oculomotor apraxia type 1
- ORPHA:2585 Ataxia-pancytopenia syndrome
- ORPHA:1184 Ataxia-photosensitivity-short stature syndrome
- OMIM:208900 Ataxia-telangiectasia
- ORPHA:251347 Ataxia-telangiectasia-like disorder
- OMIM:615919 Ataxia-Telangiectasia-Like disorder 2
- ORPHA:1190 Atelosteogenesis type I
- ORPHA:56304 Atelosteogenesis type II
- ORPHA:56305 Atelosteogenesis type III
- OMIM:108720 Atelosteogenesis, type I
- OMIM:256050 Atelosteogenesis, type II
- OMIM:108721 Atelosteogenesis, type III
- OMIM:601536 Athabaskan brainstem dysgenesis syndrome
- ORPHA:95713 Athyreosis
- OMIM:300431 Atkin-Flaitz syndrome
- ORPHA:1193 Atkin-Flaitz syndrome
- ORPHA:163934 Atopic keratoconjunctivitis
- OMIM:108760 Atresia of external auditory canal and conduction deafness
- ORPHA:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- OMIM:600123 Atrioventricular septal defect with blepharophimosis and anal andradial defects
- OMIM:209700 Atrophoderma vermiculata
- ORPHA:79100 Atrophoderma vermiculata
- ORPHA:352723 Attenuated Chédiak-Higashi syndrome
- ORPHA:391411 Atypical juvenile parkinsonism
- ORPHA:216873 Atypical pantothenate kinase-associated neurodegeneration
- ORPHA:99750 Atypical progressive supranuclear palsy syndrome
- ORPHA:3095 Atypical Rett syndrome
- ORPHA:99966 Atypical teratoid rhabdoid tumor
- ORPHA:79474 Atypical Werner syndrome
- OMIM:616580 Au-Kline syndrome
- OMIM:607842 Aural atresia, congenital
- OMIM:109050 Auralcephalosyndactyly
- ORPHA:77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:137888 Auriculocondylar syndrome
- OMIM:602483 Auriculocondylar syndrome 1
- OMIM:614669 Auriculocondylar syndrome 2
- OMIM:615706 Auriculocondylar syndrome 3
- ORPHA:352490 Autism spectrum disorder due to AUTS2 deficiency
- OMIM:300496 Autism susceptibility, X-linked 3
- OMIM:300495 Autism, susceptibility to, X-linked 2
- ORPHA:324636 Autoerythrocyte sensitization syndrome
- OMIM:615952 Autoimmune disease, multisystem, infantile-onset, 1
- OMIM:613385 Autoimmune disease, multisystem, with facial dysmorphism
- ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- ORPHA:36913 Autoimmune hypoparathyroidism
- ORPHA:3261 Autoimmune lymphoproliferative syndrome
- OMIM:615559 Autoimmune lymphoproliferative syndrome, type III
- OMIM:616100 Autoimmune lymphoproliferative syndrome, type V
- OMIM:269200 Autoimmune polyendocrine syndrome, type II
- OMIM:240300 Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
- ORPHA:227982 Autoimmune polyendocrinopathy type 3
- ORPHA:227990 Autoimmune polyendocrinopathy type 4
- OMIM:617388 Autoinflammation with arthritis and dyskeratosis
- OMIM:618852 Autoinflammation with episodic fever and lymphadenopathy
- OMIM:301081 Autoinflammatory disease, systemic, X-linked
- OMIM:616744 Autoinflammatory syndrome, familial, Behcet-like
- OMIM:301074 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
- ORPHA:33110 Autosomal agammaglobulinemia
- ORPHA:169189 Autosomal dominant centronuclear myopathy
- ORPHA:99 Autosomal dominant cerebellar ataxia
- ORPHA:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- ORPHA:90348 Autosomal dominant cutis laxa
- ORPHA:79499 Autosomal dominant deafness-onychodystrophy syndrome
- ORPHA:98808 Autosomal dominant dopa-responsive dystonia
- ORPHA:312 Autosomal dominant epidermolytic ichthyosis
- ORPHA:329466 Autosomal dominant focal dystonia, DYT25 type
- ORPHA:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa
- ORPHA:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- ORPHA:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- ORPHA:2314 Autosomal dominant hyper-IgE syndrome
- ORPHA:1810 Autosomal dominant hypohidrotic ectodermal dysplasia
- ORPHA:89937 Autosomal dominant hypophosphatemic rickets
- ORPHA:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:93325 Autosomal dominant Kenny-Caffey syndrome
- ORPHA:266 Autosomal dominant limb-girdle muscular dystrophy type 1A
- ORPHA:457050 Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- ORPHA:93328 Autosomal dominant omodysplasia
- ORPHA:98673 Autosomal dominant optic atrophy, classic form
- ORPHA:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:1300 Autosomal dominant popliteal pterygium syndrome
- ORPHA:2514 Autosomal dominant primary microcephaly
- ORPHA:2964 Autosomal dominant prognathism
- ORPHA:254892 Autosomal dominant progressive external ophthalmoplegia
- ORPHA:3107 Autosomal dominant Robinow syndrome
- ORPHA:486 Autosomal dominant severe congenital neutropenia
- ORPHA:251282 Autosomal dominant spastic ataxia type 1
- ORPHA:447753 Autosomal dominant spastic paraplegia type 9A
- ORPHA:1797 Autosomal dominant spondylocostal dysostosis
- ORPHA:1027 Autosomal recessive amelia
- ORPHA:521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:169186 Autosomal recessive centronuclear myopathy
- ORPHA:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- ORPHA:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- ORPHA:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
- ORPHA:1170 Autosomal recessive cerebelloparenchymal disorder type 3
- ORPHA:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome
- ORPHA:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:90349 Autosomal recessive cutis laxa type 1
- ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type
- ORPHA:357058 Autosomal recessive cutis laxa type 2A
- ORPHA:2776 Autosomal recessive distal osteolysis syndrome
- ORPHA:101150 Autosomal recessive dopa-responsive dystonia
- ORPHA:1974 Autosomal recessive faciodigitogenital syndrome
- ORPHA:329329 Autosomal recessive frontotemporal pachygyria
- ORPHA:89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:89838 Autosomal recessive generalized epidermolysis bullosa simplex
- ORPHA:248 Autosomal recessive hypohidrotic ectodermal dysplasia
- ORPHA:289176 Autosomal recessive hypophosphatemic rickets
- ORPHA:93324 Autosomal recessive Kenny-Caffey syndrome
- ORPHA:667 Autosomal recessive malignant osteopetrosis
- ORPHA:2990 Autosomal recessive multiple pterygium syndrome
- ORPHA:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:93329 Autosomal recessive omodysplasia
- ORPHA:731 Autosomal recessive polycystic kidney disease
- ORPHA:2512 Autosomal recessive primary microcephaly
- ORPHA:254886 Autosomal recessive progressive external ophthalmoplegia
- ORPHA:1507 Autosomal recessive Robinow syndrome
- ORPHA:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- ORPHA:209951 Autosomal recessive spastic paraplegia type 18
- ORPHA:101000 Autosomal recessive spastic paraplegia type 20
- ORPHA:171629 Autosomal recessive spastic paraplegia type 35
- ORPHA:319199 Autosomal recessive spastic paraplegia type 53
- ORPHA:320380 Autosomal recessive spastic paraplegia type 54
- ORPHA:320375 Autosomal recessive spastic paraplegia type 55
- ORPHA:401810 Autosomal recessive spastic paraplegia type 64
- ORPHA:466722 Autosomal recessive spastic paraplegia type 77
- ORPHA:513436 Autosomal recessive spastic paraplegia type 78
- ORPHA:447760 Autosomal recessive spastic paraplegia type 9B
- ORPHA:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:2311 Autosomal recessive spondylocostal dysostosis
- ORPHA:250984 Autosomal recessive Stickler syndrome
- ORPHA:280365 Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:397946 Autosomal spastic paraplegia type 58
- ORPHA:454836 Avian influenza
- OMIM:109120 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
- ORPHA:782 Axenfeld-Rieger syndrome
- OMIM:180500 Axenfeld-Rieger syndrome, type 1
- OMIM:601499 Axenfeld-rieger syndrome, type 2
- OMIM:602482 Axenfeld-Rieger syndrome, type 3
- ORPHA:1834 Axial mesodermal dysplasia spectrum
- ORPHA:1272 Aymé-Gripp syndrome
- OMIM:601088 Ayme-Gripp syndrome
Code pathologie
Nom de la pathologie
- ORPHA:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:79332 B4GALT1-CDG
- ORPHA:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:108 Babesiosis
- ORPHA:36234 Bacterial toxic-shock syndrome
- ORPHA:352577 Bainbridge-Ropers syndrome
- OMIM:615485 Bainbridge-Ropers syndrome
- OMIM:618218 Baker-Gordon syndrome
- OMIM:218600 Baller-Gerold syndrome
- ORPHA:1225 Baller-Gerold syndrome
- ORPHA:1226 Bamforth-Lazarus syndrome
- OMIM:600348 Band heterotopia
- OMIM:251290 Band-Like calcification with simplified gyration and polymicrogyria
- ORPHA:1227 Bangstad syndrome
- OMIM:210740 Bangstad syndrome
- OMIM:153480 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:109 Bannayan-Riley-Ruvalcaba syndrome
- ORPHA:2995 Baraitser-Winter cerebrofrontofacial syndrome
- OMIM:243310 Baraitser-Winter syndrome 1
- OMIM:614583 Baraitser-Winter syndrome 2
- OMIM:619255 Baralle-Macken syndrome
- OMIM:209885 Barber-Say syndrome
- ORPHA:1231 Barber-Say syndrome
- ORPHA:110 Bardet-Biedl syndrome
- OMIM:209900 Bardet-Biedl syndrome 1
- OMIM:615994 Bardet-Biedl syndrome 17
- OMIM:615996 Bardet-Biedl syndrome 19
- OMIM:617406 Bardet-Biedl syndrome 21
- OMIM:617119 Bardet-Biedl syndrome 22
- OMIM:615982 Bardet-Biedl syndrome 4
- OMIM:615984 Bardet-Biedl syndrome 7
- OMIM:615985 Bardet-Biedl syndrome 8
- OMIM:604571 Bare lymphocyte syndrome, type I
- OMIM:209920 Bare lymphocyte syndrome, type II
- OMIM:302060 Barth syndrome
- ORPHA:1234 Bartsocas-Papas syndrome
- ORPHA:89938 Bartter syndrome type 4
- OMIM:241200 Bartter syndrome, type 2
- OMIM:109400 Basal cell nevus syndrome
- OMIM:213600 Basal ganglia calcification, idiopathic, 1
- OMIM:618824 Basal ganglia calcification, idiopathic, 8, autosomal recessive
- OMIM:114100 Basal ganglia calcification, idiopathic, childhood-onset
- OMIM:605827 Basaloid follicular hamartoma syndrome, generalized, autosomal dominant
- OMIM:616449 Basel-Vanagaite-Smirin-Yosef syndrome
- ORPHA:464738 Basel-Vanagaite-Smirin-Yosef syndrome
- OMIM:109500 Basilar impression, primary
- OMIM:301032 Basilicata-Akhtar syndrome
- ORPHA:100976 Bathing suit ichthyosis
- OMIM:301845 Bazex syndrome
- ORPHA:166113 Bazex syndrome
- ORPHA:113 Bazex-Dupré-Christol syndrome
- OMIM:123790 Beare-Stevenson cutis gyrata syndrome
- OMIM:613680 Beaulieu-Boycott-Innes syndrome
- OMIM:618798 Beck-Fahrner syndrome
- OMIM:130650 Beckwith-Wiedemann syndrome
- ORPHA:116 Beckwith-Wiedemann syndrome
- OMIM:209970 Beemer lethal malformation syndrome
- ORPHA:1237 Beemer-Ertbruggen syndrome
- ORPHA:275864 Behavioral variant of frontotemporal dementia
- ORPHA:117 Behçet disease
- OMIM:109650 Behcet syndrome
- ORPHA:1241 Bencze syndrome
- ORPHA:1949 Benign familial neonatal epilepsy
- ORPHA:71518 Benign paroxysmal torticollis of infancy
- ORPHA:324581 Benign Samaritan congenital myopathy
- ORPHA:252164 Benign schwannoma
- OMIM:614592 Bent bone dysplasia syndrome
- OMIM:620076 Bent bone dysplasia syndrome 2
- OMIM:231200 Bernard-Soulier syndrome
- ORPHA:274 Bernard-Soulier syndrome
- OMIM:153670 Bernard-Soulier syndrome, type A2, autosomal dominant
- ORPHA:118 Beta-mannosidosis
- ORPHA:1035 Beta-mercaptolactate cysteine disulfiduria
- ORPHA:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
- ORPHA:848 Beta-thalassemia
- ORPHA:231214 Beta-thalassemia major
- OMIM:613161 Beta-ureidopropionase deficiency
- OMIM:158810 Bethlem myopathy 1
- ORPHA:79138 Bickerstaff brainstem encephalitis
- ORPHA:141333 Biemond syndrome type 2
- ORPHA:2695 Bifid nose
- OMIM:608980 Bifid nose with or without anorectal and renal anomalies
- OMIM:109740 Bifid nose, autosomal dominant
- OMIM:210400 Bifid nose, autosomal recessive
- ORPHA:99771 Bifid uvula
- ORPHA:69736 Bilateral acute depigmentation of the iris
- ORPHA:101070 Bilateral frontoparietal polymicrogyria
- ORPHA:208447 Bilateral generalized polymicrogyria
- ORPHA:208441 Bilateral parasagittal parieto-occipital polymicrogyria
- ORPHA:98889 Bilateral perisylvian polymicrogyria
- ORPHA:268940 Bilateral polymicrogyria
- ORPHA:1980 Bilateral striopallidodentate calcinosis
- OMIM:619534 Biliary, renal, neurologic, and skeletal syndrome
- ORPHA:79241 Biotinidase deficiency
- OMIM:253260 Biotinidase deficiencymultiple carboxylase deficiency, late-onset
- OMIM:612292 Birk-Barel mental retardation dysmorphism syndrome
- OMIM:617595 Birk-Landau-Perez syndrome
- ORPHA:124 Blackfan-Diamond anemia
- ORPHA:90340 Blau syndrome
- OMIM:614201 Bleeding disorder, platelet-type, 11
- OMIM:605735 Bleeding disorder, platelet-type, 12
- OMIM:614009 Bleeding disorder, platelet-type, 13, susceptibility to
- OMIM:614158 Bleeding disorder, platelet-type, 14
- OMIM:615193 Bleeding disorder, platelet-type, 15
- OMIM:187900 Bleeding disorder, platelet-type, 17
- OMIM:615888 Bleeding disorder, platelet-type, 18
- OMIM:616176 Bleeding disorder, platelet-type, 19
- OMIM:616913 Bleeding disorder, platelet-type, 20
- OMIM:609821 Bleeding disorder, platelet-type, 8
- ORPHA:1997 Blepharo-cheilo-odontic syndrome
- OMIM:109900 Blepharochalasis and double lip
- OMIM:110000 Blepharochalasis, superior
- OMIM:119580 Blepharocheilodontic syndrome 1
- OMIM:617681 Blepharocheilodontic syndrome 2
- OMIM:110050 Blepharonasofacial malformation syndrome
- ORPHA:1252 Blepharonasofacial malformation syndrome
- OMIM:604314 Blepharophimosis with facial and genital anomalies and mental retardation
- OMIM:210745 Blepharophimosis with ptosis, syndactyly, and short stature
- OMIM:110100 Blepharophimosis, epicanthus inversus, and ptosis
- OMIM:619293 Blepharophimosis-impaired intellectual development syndrome
- ORPHA:293707 Blepharophimosis-intellectual disability syndrome, MKB type
- ORPHA:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:293725 Blepharophimosis-intellectual disability syndrome, Verloes type
- ORPHA:126 Blepharophimosis-ptosis-epicanthus inversus syndrome
- ORPHA:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- ORPHA:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- ORPHA:1259 Blepharoptosis-myopia-ectopia lentis syndrome
- OMIM:606798 Blepharospasm, benign essential, susceptibility to
- OMIM:619226 Blistering, acantholytic, of oral and laryngeal mucosa
- ORPHA:50945 Blomstrand lethal chondrodysplasia
- OMIM:210900 Bloom syndrome
- ORPHA:125 Bloom syndrome
- OMIM:112200 Blue rubber bleb nevus
- ORPHA:217266 BNAR syndrome
- OMIM:617885 Body mass index quantitative trait locus 19
- ORPHA:97297 Bohring-Opitz syndrome
- OMIM:605039 Bohring-Opitz syndrome
- ORPHA:1842 Bone dysplasia, lethal Holmgren type
- OMIM:612394 Bone fragility with contractures, arterial rupture, and deafness
- OMIM:615715 Bone marrow failure syndrome 2
- OMIM:617052 Bone marrow failure syndrome 3
- OMIM:618116 Bone marrow failure syndrome 4
- OMIM:618165 Bone marrow failure syndrome 5
- OMIM:618849 Bone marrow failure syndrome 6
- ORPHA:1261 Bonnemann-Meinecke-Reich syndrome
- OMIM:112300 Book syndrome
- OMIM:112310 Boomerang dysplasia
- ORPHA:107 BOR syndrome
- OMIM:600257 Bor-Duane hydrocephalus contiguous gene syndrome
- OMIM:301900 Borjeson-Forssman-Lehmann syndrome
- ORPHA:127 Borjeson-Forssman-Lehmann syndrome
- OMIM:615722 Bosch-Boonstra-Schaaf optic atrophy syndrome
- OMIM:603457 Bosma arhinia microphthalmia syndrome
- ORPHA:1267 Botulism
- OMIM:619543 Boudin-Mortier syndrome
- OMIM:211180 Bowen-Conradi syndrome
- ORPHA:1270 Bowen-Conradi syndrome
- OMIM:601357 Brachial amelia, cleft lip, and holoprosencephaly
- OMIM:112370 Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay
- OMIM:601353 Brachycephaly, deafness, cataract, microstomia, and mental retardation
- OMIM:617412 Brachycephaly, trichomegaly, and developmental delay
- ORPHA:93387 Brachydactyly type E
- OMIM:613627 Brachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation
- OMIM:211369 Brachydactyly, type A2, with microcephaly
- OMIM:113000 Brachydactyly, type B1
- OMIM:113300 Brachydactyly, type E
- OMIM:113301 Brachydactyly, type e, with atrial septal defect, type II
- OMIM:613382 Brachydactyly, type E2
- ORPHA:1275 Brachydactyly-elbow wrist dysplasia syndrome
- ORPHA:1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- ORPHA:1278 Brachydactyly-preaxial hallux varus syndrome
- ORPHA:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome
- OMIM:113477 Brachymorphism-Onychodysplasia-Dysphalangism syndrome
- ORPHA:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome
- OMIM:271530 Brachyolmia type 1, Hobaek type
- OMIM:271630 Brachyolmia type 1, Toledo type
- OMIM:113500 Brachyolmia type 3
- OMIM:609945 Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- ORPHA:79345 Brachytelephalangic chondrodysplasia punctata
- ORPHA:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome
- ORPHA:52047 Braddock syndrome
- OMIM:619980 Braddock-Carey syndrome 1
- OMIM:619981 Braddock-Carey syndrome 2
- OMIM:618476 Brain abnormalities, neurodegeneration, and dysosteosclerosis
- ORPHA:352649 Brain dopamine-serotonin vesicular transport disease
- ORPHA:75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- OMIM:613735 Brain malformations with or without urinary tract defects
- ORPHA:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
- OMIM:175780 Brain small vessel disease 1 with or without ocular anomalies
- ORPHA:209905 Brain-lung-thyroid syndrome
- OMIM:301950 Branchial arch syndrome, X-linked
- OMIM:113600 Branchial cleft anomaliesbranchial cysts, included
- ORPHA:1297 Branchio-oculo-facial syndrome
- ORPHA:50815 Branchiogenic deafness syndrome
- OMIM:609166 Branchiogenic-deafness syndrome
- OMIM:113620 Branchiooculofacial syndrome
- ORPHA:52429 Branchiootic syndrome
- OMIM:602588 Branchiootic syndrome 1
- OMIM:120502 Branchiootic syndrome 2
- OMIM:608389 Branchiootic syndrome 3
- OMIM:113650 Branchiootorenal syndrome 1
- OMIM:610896 Branchiootorenal syndrome 2
- ORPHA:1299 Branchioskeletogenital syndrome
- OMIM:113700 Breasts and/or nipples, aplasia or hypoplasia of, 1
- OMIM:616001 Breasts and/or nipples, aplasia or hypoplasia of, 2
- ORPHA:85284 BRESEK syndrome
- ORPHA:90354 Brittle cornea syndrome
- OMIM:229200 Brittle cornea syndrome
- ORPHA:2357 Bronchogenic cyst
- ORPHA:79493 Brooke-Spiegler syndrome
- OMIM:211530 Brown-Vialetto-Van laere syndrome 1
- OMIM:614707 Brown-Vialetto-Van laere syndrome 2
- ORPHA:2771 Bruck syndrome
- OMIM:259450 Bruck syndrome 1
- OMIM:609220 Bruck syndrome 2
- OMIM:619690 Brunet-Wagner neurodevelopmental syndrome
- OMIM:619720 Bryant-Li-Bhoj neurodevelopmental syndrome 1
- OMIM:619721 Bryant-Li-Bhoj neurodevelopmental syndrome 2
- OMIM:211500 Bulbar palsy, progressive, of childhood
- OMIM:302000 Bullous dystrophy, hereditary Macular type
- OMIM:619314 Buratti-Harel syndrome
- ORPHA:543 Burkitt lymphoma
- ORPHA:1200 Burn-McKeown syndrome
- OMIM:608572 Burn-Mckeown syndrome
- ORPHA:353253 Burning mouth syndrome
- ORPHA:1306 Buschke-Ollendorff syndrome
- ORPHA:1262 Böök syndrome
Code pathologie
Nom de la pathologie
- ORPHA:1308 C syndrome
- OMIM:211750 C syndrome
- ORPHA:135 CACH syndrome
- OMIM:114030 Cafe-Au-Lait spots, multiple
- OMIM:114000 Caffey disease
- ORPHA:1310 Caffey disease
- OMIM:126550 Calvarial doughnut lesions with bone fragility
- OMIM:302030 Calvarial hyperostosis
- ORPHA:83472 CAMOS syndrome
- ORPHA:1318 Campomelia, Cumming type
- OMIM:211890 Campomelia, Cumming type
- OMIM:114290 Campomelic dysplasia
- ORPHA:140 Campomelic dysplasia
- ORPHA:1327 Camptodactyly syndrome, Guadalajara type 1
- ORPHA:1326 Camptodactyly syndrome, Guadalajara type 2
- 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
- OMIM:610474 Camptodactyly, tall stature, and hearing loss syndrome
- ORPHA:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome
- OMIM:131300 Camurati-Engelmann disease
- ORPHA:1328 Camurati-Engelmann disease
- OMIM:271900 Canavan disease
- ORPHA:141 Canavan disease
- OMIM:114580 Candidiasis, familial chronic mucocutaneous, autosomal dominant
- OMIM:615527 Candidiasis, familial, 8
- OMIM:616445 Candidiasis, familial, 9
- OMIM:114600 Canine teeth, absence of upper permanent
- ORPHA:1517 Cantú syndrome
- ORPHA:171881 Cap myopathy
- 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
- OMIM:114700 Carabelli anomaly of maxillary molar teeth
- ORPHA:70482 Carcinoma of esophagus
- OMIM:212080 Cardiac lipidosis, familial
- 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: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:606842 Cardioneuromyopathy with hyaline masses and nemaline rods
- 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:1359 Carney complex
- OMIM:608837 Carney complex variant
- ORPHA:228308 Carnitine palmitoyl transferase II deficiency, neonatal form
- ORPHA:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form
- OMIM:608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal
- ORPHA:159 Carnitine-acylcarnitine translocase deficiency
- ORPHA:53035 Caroli disease
- ORPHA:480520 Caroli syndrome
- 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:212540 Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
- ORPHA:1373 Cataract-aberrant oral frenula-growth delay 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:3027 Caudal regression syndrome
- OMIM:125520 Cayler cardiofacial 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
- OMIM:302400 Central incisors, absence of
- OMIM:212835 Cerebellar ataxia and ectodermal dysplasia
- OMIM:619576 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
- OMIM:610185 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2
- ORPHA:1174 Cerebellar ataxia-ectodermal dysplasia syndrome
- ORPHA:1173 Cerebellar ataxia-hypogonadism syndrome
- OMIM:618501 Cerebellar atrophy with seizures and variable developmental delay
- 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: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
- ORPHA:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- OMIM:300352 Cerebral creatine deficiency syndrome 1
- OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
- OMIM:617008 Cerebral palsy, spastic quadriplegic, 3
- 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:213700 Cerebrotendinous xanthomatosis
- ORPHA:909 Cerebrotendinous xanthomatosis
- ORPHA:169079 Cernunnos-XLF deficiency
- OMIM:256730 Ceroid lipofuscinosis, neuronal, 1
- OMIM:610127 Ceroid lipofuscinosis, neuronal, 10
- ORPHA:2218 Cervical hypertrichosis-peripheral neuropathy syndrome
- OMIM:214290 Cervical vertebrae, agenesis of
- OMIM:275630 Chanarin-Dorfman syndrome
- ORPHA:1401 CHAND syndrome
- OMIM:214350 CHANDS
- OMIM:169100 Char syndrome
- ORPHA:46627 Char syndrome
- ORPHA:101085 Charcot-Marie-Tooth disease type 1F
- ORPHA:99948 Charcot-Marie-Tooth disease type 4A
- ORPHA:99956 Charcot-Marie-Tooth disease type 4B2
- ORPHA:99949 Charcot-Marie-Tooth disease type 4C
- OMIM:118210 Charcot-Marie-Tooth disease, axonal, type 2A1
- OMIM:607684 Charcot-Marie-Tooth disease, axonal, type 2E
- OMIM:619519 Charcot-Marie-Tooth disease, axonal, type 2FF
- OMIM:619742 Charcot-Marie-Tooth disease, demyelinating, type 1I
- OMIM:614895 Charcot-Marie-Tooth disease, demyelinating, type 4F
- OMIM:601382 Charcot-Marie-Tooth disease, type 4B1
- OMIM:615284 Charcot-Marie-Tooth disease, type 4B3
- OMIM:601596 Charcot-Marie-Tooth disease, type 4C
- 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
- ORPHA:1221 Cheilitis glandularis
- ORPHA:184 Cherubism
- OMIM:118400 Cherubism
- OMIM:118420 Chiari malformation type I
- ORPHA:324625 Chikungunya
- ORPHA:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- ORPHA:171439 Childhood-onset nemaline myopathy
- OMIM:619841 Chilton-Okur-Chung neurodevelopmental syndrome
- ORPHA:3474 CHIME syndrome
- OMIM:617180 Chitayat syndrome
- ORPHA:137914 Choanal atresia
- OMIM:613611 Choanal atresia and lymphedema
- OMIM:211600 Cholestasis, progressive familial intrahepatic 1
- 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:619504 Chopra-Amiel-Gordon syndrome
- OMIM:616368 CHOPS syndrome
- ORPHA:2388 Choreoacanthocytosis
- OMIM:200150 CHOREOACANTHOCYTOSIS
- ORPHA:1433 Choroidal atrophy-alopecia syndrome
- 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: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: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:617930 Chromosome 1p35 deletion syndrome
- OMIM:607872 Chromosome 1p36 deletion syndrome
- OMIM:619343 Chromosome 1p36 deletion syndrome, proximal
- 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:615538 Chromosome 22q13 duplication syndrome
- OMIM:612513 Chromosome 2p16.1-p15 deletion 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:330064 Chronic actinic dermatitis
- 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
- ORPHA:1334 Chronic mucocutaneous candidiasis
- ORPHA:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- ORPHA:77293 Chronic visceral acid sphingomyelinase deficiency
- ORPHA:263463 CHST3-related skeletal dysplasia
- OMIM:604213 Chudley-Mccullough syndrome
- 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:616726 Ciliary dyskinesia, primary, 33
- OMIM:617091 Ciliary dyskinesia, primary, 34
- OMIM:617092 Ciliary dyskinesia, primary, 35
- OMIM:300991 Ciliary dyskinesia, primary, 36, X-linked
- OMIM:617577 Ciliary dyskinesia, primary, 37
- 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:618801 Ciliary dyskinesia, primary, 45
- OMIM:619436 Ciliary dyskinesia, primary, 46
- OMIM:620032 Ciliary dyskinesia, primary, 48, without situs inversus
- OMIM:610852 Ciliary dyskinesia, primary, 6
- OMIM:611884 Ciliary dyskinesia, primary, 7
- OMIM:612444 Ciliary dyskinesia, primary, 9, with or without situs inversus
- OMIM:619273 Cimdag syndrome
- ORPHA:1451 CINCA syndrome
- OMIM:607115 Cinca syndrome
- ORPHA:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- ORPHA:57777 Cirrhotic cardiomyopathy
- ORPHA:247525 Citrullinemia type I
- ORPHA:251383 CK syndrome
- OMIM:300831 Ck syndrome
- ORPHA:168984 CLAPO syndrome
- OMIM:300602 Clark-Baraitser syndrome
- ORPHA:71277 Classic glucose transporter type 1 deficiency syndrome
- ORPHA:394 Classic homocystinuria
- ORPHA:324604 Classic multiminicore myopathy
- ORPHA:2584 Classic mycosis fungoides
- 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: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:1995 Cleft lip-retinopathy syndrome
- 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
- OMIM:303400 Cleft palate, X-linked
- ORPHA:2013 Cleft palate-large ears-small head syndrome
- ORPHA:2016 Cleft palate-lateral synechia syndrome
- OMIM:119550 Cleft palate-lateral synechia syndrome
- ORPHA:2015 Cleft palate-short stature-vertebral anomalies syndrome
- ORPHA:2010 Cleft palate-stapes fixation-oligodontia syndrome
- OMIM:119570 Cleft soft palate
- ORPHA:99772 Cleft velum
- OMIM:155145 Cleft, median, of upper lip with polyps of facial skin and nasal mucosa
- ORPHA:1452 Cleidocranial dysplasia
- OMIM:119600 Cleidocranial dysplasia
- OMIM:216330 Cleidocranial dysplasia, recessive form
- OMIM:129500 Clouston syndrome
- 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
- ORPHA:352682 Cobblestone lissencephaly without muscular or ocular involvement
- ORPHA:1911 Cocaine embryofetopathy
- 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:614651 Coenzyme Q10 deficiency, primary, 2
- OMIM:614654 Coenzyme Q10 deficiency, primary, 5
- OMIM:616276 Coenzyme Q10 deficiency, primary, 7
- 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
- ORPHA:1467 Cogan syndrome
- 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
- 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:120433 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
- OMIM:617306 Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
- OMIM:615182 Combined d-2- and l-2-hydroxyglutaric aciduria
- ORPHA:35909 Combined deficiency of factor V and factor VIII
- ORPHA:440727 Combined hamartoma of the retina and retinal pigment epithelium
- 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
- OMIM:312863 Combined immunodeficiency, X-linked
- ORPHA:436252 Combined immunodeficiency-enteropathy spectrum
- ORPHA:289504 Combined malonic and methylmalonic acidemia
- 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:614922 Combined oxidative phosphorylation deficiency 11
- OMIM:614924 Combined oxidative phosphorylation deficiency 12
- OMIM:614946 Combined oxidative phosphorylation deficiency 14
- OMIM:614947 Combined oxidative phosphorylation deficiency 15
- OMIM:615440 Combined oxidative phosphorylation deficiency 17
- OMIM:610498 Combined oxidative phosphorylation deficiency 2
- OMIM:615917 Combined oxidative phosphorylation deficiency 20
- OMIM:616045 Combined oxidative phosphorylation deficiency 22
- OMIM:616239 Combined oxidative phosphorylation deficiency 24
- OMIM:616430 Combined oxidative phosphorylation deficiency 25
- OMIM:616672 Combined oxidative phosphorylation deficiency 27
- OMIM:616811 Combined oxidative phosphorylation deficiency 29
- OMIM:617228 Combined oxidative phosphorylation deficiency 31
- OMIM:617664 Combined oxidative phosphorylation deficiency 32
- 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:618951 Combined oxidative phosphorylation deficiency 45
- OMIM:618958 Combined oxidative phosphorylation deficiency 47
- OMIM:619012 Combined oxidative phosphorylation deficiency 48
- OMIM:611719 Combined oxidative phosphorylation deficiency 5
- OMIM:619025 Combined oxidative phosphorylation deficiency 50
- 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
- ORPHA:95494 Combined pituitary hormone deficiencies, genetic forms
- OMIM:120500 Commissural lip pits
- ORPHA:1572 Common variable immunodeficiency
- OMIM:614379 Complement component 4B deficiency
- OMIM:216950 Complement component c1r deficiency
- OMIM:610984 Complement factor I deficiency
- ORPHA:1329 Complete atrioventricular septal defect
- ORPHA:3216 Conductive deafness-malformed external ear syndrome
- ORPHA:3236 Conductive deafness-ptosis-skeletal anomalies syndrome
- OMIM:605549 Cone-Rod dystrophy 8
- ORPHA:294975 Congenital absence of upper arm and forearm with hand present
- ORPHA:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- ORPHA:79 Congenital alpha2-antiplasmin deficiency
- ORPHA:3319 Congenital amegakaryocytic thrombocytopenia
- ORPHA:86816 Congenital analbuminemia
- OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
- OMIM:611890 Congenital arthrogryposis with anterior horn cell disease
- OMIM:604168 Congenital cataracts, facial dysmorphism, and neuropathy
- ORPHA:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:115 Congenital contractural arachnodactyly
- OMIM:616266 Congenital contractures of the limbs and face, hypotonia, and developmental delay
- 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: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: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: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: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:98870 Congenital dyserythropoietic anemia type III
- 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:330 Congenital factor XII 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: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: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:2373 Congenital laryngomalacia
- OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
- ORPHA:2430 Congenital macroglossia
- ORPHA:98905 Congenital multicore myopathy with external ophthalmoplegia
- 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:839 Congenital nephrotic syndrome, Finnish type
- ORPHA:168486 Congenital neuronal ceroid lipofuscinosis
- ORPHA:79394 Congenital non-bullous ichthyosiform erythroderma
- ORPHA:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- 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:290 Congenital rubella syndrome
- ORPHA:93400 Congenital sialidosis type 2
- ORPHA:858 Congenital toxoplasmosis
- ORPHA:95430 Congenital tracheomalacia
- ORPHA:92050 Congenital tufting enteropathy
- ORPHA:1166 Congenital unilateral hypoplasia of depressor anguli oris
- ORPHA:291 Congenital varicella syndrome
- ORPHA:2291 Congenital velopharyngeal incompetence
- 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:1488 Cooper-Jabs syndrome
- OMIM:608470 Corneal dystrophy, Reis-Bucklers type
- 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
- 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: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: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
- 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: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
- 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:606851 Cree mental retardation syndrome
- OMIM:123400 Creutzfeldt-Jakob disease
- OMIM:123450 Cri-Du-Chat syndrome
- 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
- ORPHA:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
- OMIM:123570 Cryptophthalmos, unilateral or bilateral, isolated
- 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
- OMIM:601707 Curry-Jones syndrome
- ORPHA:1553 Curry-Jones syndrome
- 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
- 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: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
- 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
- ORPHA:2686 Cyclic neutropenia
- OMIM:162800 Cyclic neutropenia
- OMIM:500007 Cyclic vomiting syndrome
- 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
- OMIM:219800 Cystinosis, nephropathic
- ORPHA:2437 Czeizel-Losonci syndrome
Code pathologie
Nom de la pathologie
- OMIM:600721 D-2-Hydroxyglutaric aciduria 1
- OMIM:261515 D-bifunctional protein deficiency
- OMIM:220120 D-glyceric aciduria
- ORPHA:941 D-glyceric aciduria
- ORPHA:1562 Dacryocystitis-osteopoikilosis syndrome
- ORPHA:1563 Dahlberg-Borer-Newcomer syndrome
- OMIM:609222 Dandy-Walker malformation with occipital cephalocele, autosomal dominant
- OMIM:220220 Dandy-Walker malformation with postaxial polydactyly
- ORPHA:1566 Dandy-Walker malformation-postaxial polydactyly syndrome
- OMIM:220200 Dandy-Walker syndrome
- OMIM:124200 Darier-White disease
- ORPHA:2962 De Barsy syndrome
- OMIM:278800 De Sanctis-Cacchione syndrome
- ORPHA:3214 Deaf blind hypopigmentation syndrome, Yemenite type
- ORPHA:90024 Deafness with labyrinthine aplasia, microtia, and microdontia
- OMIM:605192 Deafness, autosomal dominant 23
- OMIM:617772 Deafness, autosomal dominant 34, with or without inflammation
- OMIM:605594 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
- OMIM:618778 Deafness, autosomal dominant 75
- OMIM:619081 Deafness, autosomal dominant 78
- OMIM:601869 Deafness, autosomal recessive 15
- OMIM:619354 Deafness, cataract, impaired intellectual development, and polyneuropathy
- OMIM:221320 Deafness, conductive, with ptosis and skeletal anomalies
- OMIM:124480 Deafness, congenital, and onychodystrophy, autosomal dominant
- OMIM:610706 Deafness, congenital, with inner ear agenesis, microtia, and microdontia
- OMIM:300475 Deafness, dystonia, and cerebral hypomyelination
- OMIM:124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease
- OMIM:221750 Deafness, sensorineural, with pituitary dwarfism
- OMIM:301018 Deafness, X-linked 7
- ORPHA:3241 Deafness-craniofacial syndrome
- OMIM:125230 Deafness-Craniofacial syndrome
- ORPHA:3232 Deafness-ear malformation-facial palsy syndrome
- ORPHA:3220 Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:3218 Deafness-epiphyseal dysplasia-short stature syndrome
- ORPHA:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- ORPHA:90646 Deafness-hypogonadism syndrome
- ORPHA:85321 Deafness-intellectual disability syndrome, Martin-Probst type
- OMIM:221740 Deafness-Oligodontia syndrome
- ORPHA:3230 Deafness-oligodontia syndrome
- OMIM:619004 Deeah syndrome
- ORPHA:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- OMIM:619488 DEGCAGS syndrome
- OMIM:194380 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
- ORPHA:306686 Delayed encephalopathy due to carbon monoxide poisoning
- ORPHA:3034 Delayed membranous cranial ossification
- ORPHA:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- ORPHA:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
- ORPHA:79134 DEND syndrome
- ORPHA:99828 Dengue fever
- ORPHA:1077 Dental ankylosis
- OMIM:601216 Dental anomalies and short stature
- OMIM:125350 Dental noneruption
- OMIM:619877 Dentici-Novelli neurodevelopmental syndrome
- ORPHA:1653 Dentin dysplasia
- OMIM:125440 Dentin dysplasia with sclerotic bones
- OMIM:125400 Dentin dysplasia, type I, with microdontia and misshapen teeth
- OMIM:125420 Dentin dysplasia, type II
- ORPHA:49042 Dentinogenesis imperfecta
- OMIM:125490 Dentinogenesis imperfecta 1
- OMIM:125500 Dentinogenesis imperfecta, shields type III
- ORPHA:71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- OMIM:194080 Denys-Drash syndrome
- OMIM:603165 Dermatitis, atopic
- OMIM:221790 DERMATOLEUKODYSTROPHY
- ORPHA:221 Dermatomyositis
- OMIM:221810 Dermatoosteolysis, Kirghizian type
- ORPHA:1657 Dermatoosteolysis, Kirghizian type
- OMIM:125595 Dermatopathia pigmentosa reticularis
- ORPHA:1901 Dermatosparaxis Ehlers-Danlos syndrome
- OMIM:221800 Dermochondrocorneal dystrophy
- ORPHA:1660 Dermoodontodysplasia
- OMIM:125640 DERMOODONTODYSPLASIA
- ORPHA:99688 Dermotrichic syndrome
- OMIM:616708 Desanto-Shinawi syndrome
- OMIM:251450 Desbuquois dysplasia 1
- OMIM:615777 Desbuquois dysplasia 2
- ORPHA:1425 Desbuquois syndrome
- ORPHA:98909 Desminopathy
- ORPHA:35107 Desmosterolosis
- OMIM:602398 DESMOSTEROLOSIS
- OMIM:619777 Developmental and epileptic encephalopathy 100
- OMIM:619814 Developmental and epileptic encephalopathy 101
- OMIM:619881 Developmental and epileptic encephalopathy 102
- OMIM:619913 Developmental and epileptic encephalopathy 103
- OMIM:619983 Developmental and epileptic encephalopathy 105 with hypopituitarism
- OMIM:620028 Developmental and epileptic encephalopathy 106
- OMIM:620033 Developmental and epileptic encephalopathy 107
- OMIM:300672 Developmental and epileptic encephalopathy 2
- OMIM:616139 Developmental and epileptic encephalopathy 27
- OMIM:616409 Developmental and epileptic encephalopathy 33
- OMIM:617276 Developmental and epileptic encephalopathy 48
- OMIM:617830 Developmental and epileptic encephalopathy 58
- OMIM:617938 Developmental and epileptic encephalopathy 62
- OMIM:618008 Developmental and epileptic encephalopathy 65
- OMIM:618285 Developmental and epileptic encephalopathy 69
- OMIM:619317 Developmental and epileptic encephalopathy 6B, non-Dravet
- OMIM:618298 Developmental and epileptic encephalopathy 70
- OMIM:618379 Developmental and epileptic encephalopathy 73
- OMIM:301044 Developmental and epileptic encephalopathy 85, with or without midline brain defects
- OMIM:619124 Developmental and epileptic encephalopathy 89
- OMIM:617711 Developmental and epileptic encephalopathy 91
- OMIM:619340 Developmental and epileptic encephalopathy 96
- OMIM:619605 Developmental and epileptic encephalopathy 98
- OMIM:619606 Developmental and epileptic encephalopathy 99
- ORPHA:313892 Developmental and speech delay due to SOX5 deficiency
- OMIM:619228 Developmental delay with dysmorphic facies and dental anomalies
- OMIM:618454 Developmental delay with or without dysmorphic facies and autism
- OMIM:619575 Developmental delay with or without intellectual impairment or behavioral abnormalities
- OMIM:620062 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
- OMIM:616901 Developmental delay with short stature, dysmorphic features, and sparse hair
- OMIM:618430 Developmental delay with variable intellectual impairment and behavioral abnormalities
- OMIM:619694 Developmental delay with variable neurologic and brain abnormalities
- OMIM:620065 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
- OMIM:620012 Developmental delay, hypotonia, and impaired language
- OMIM:619595 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
- OMIM:619090 Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
- OMIM:619475 Developmental delay, impaired speech, and behavioral abnormalities
- OMIM:617991 Developmental delay, intellectual disability, obesity, and dysmorphic features
- OMIM:620141 Developmental delay, language impairment, and ocular abnormalities
- ORPHA:369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ORPHA:79107 Developmental malformations-deafness-dystonia syndrome
- ORPHA:1666 Dextrocardia
- OMIM:221950 Dextrocardia with unusual facies and microphthalmia
- OMIM:125700 Diabetes insipidus, Neurohypophyseal type
- OMIM:610199 Diabetes mellitus, neonatal, with congenital hypothyroidism
- OMIM:618856 Diabetes, permanent neonatal 2, with or without neurologic features
- ORPHA:1926 Diabetic embryopathy
- OMIM:105650 Diamond-Blackfan anemia 1
- OMIM:613309 Diamond-blackfan anemia 10
- OMIM:614900 Diamond-Blackfan anemia 11
- OMIM:615909 Diamond-Blackfan anemia 13
- OMIM:300946 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- OMIM:606164 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
- OMIM:620072 Diamond-Blackfan anemia 21
- OMIM:610629 Diamond-Blackfan anemia 3
- OMIM:612527 Diamond-Blackfan anemia 4
- OMIM:612561 Diamond-Blackfan anemia 6
- OMIM:612562 Diamond-Blackfan anemia 7
- OMIM:612563 Diamond-Blackfan anemia 8
- OMIM:613308 Diamond-Blackfan anemia 9
- ORPHA:66637 Diaphanospondylodysostosis
- OMIM:608022 Diaphanospondylodysostosis
- ORPHA:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome
- OMIM:601163 Diaphragmatic defects, limb deficiencies, and ossification defects of skull
- OMIM:620025 Diaphragmatic hernia 4, with cardiovascular defects
- OMIM:270420 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
- OMIM:125900 Diastema, dental medial
- ORPHA:628 Diastrophic dysplasia
- OMIM:222600 Diastrophic dysplasia
- ORPHA:1672 Diencephalic syndrome
- OMIM:618846 Diets-Jongmans syndrome
- ORPHA:90060 Diffuse alveolar hemorrhage
- ORPHA:220393 Diffuse cutaneous systemic sclerosis
- ORPHA:2123 Diffuse neonatal hemangiomatosis
- OMIM:188400 Digeorge syndrome
- OMIM:246900 Dihydrolipoamide dehydrogenase deficiency
- ORPHA:226 Dihydropteridine reductase deficiency
- ORPHA:1675 Dihydropyrimidine dehydrogenase deficiency
- OMIM:274270 Dihydropyrimidine dehydrogenase deficiency
- OMIM:222748 Dihydropyrimidinuria
- ORPHA:66634 Dilated cardiomyopathy with ataxia
- ORPHA:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- ORPHA:1681 Diprosopus
- ORPHA:2412 Dislocation of the hip-dysmorphism syndrome
- ORPHA:2983 Disorder of sex development-intellectual disability syndrome
- OMIM:223200 Disorganization, mouse, homolog of
- OMIM:126190 Disproportionate short stature with ptosis and valvular heart lesions
- ORPHA:345 Dissecting cellulitis of the scalp
- ORPHA:261222 Distal 16p11.2 microdeletion syndrome
- ORPHA:319171 Distal 17p13.1 microdeletion syndrome
- ORPHA:261330 Distal 22q11.2 microdeletion syndrome
- ORPHA:261337 Distal 22q11.2 microduplication syndrome
- ORPHA:254351 Distal 7q11.23 microdeletion syndrome
- ORPHA:261102 Distal 7q11.23 microduplication syndrome
- ORPHA:1146 Distal arthrogryposis type 1
- ORPHA:1307 Distal limb deficiencies-micrognathia syndrome
- ORPHA:1580 Distal monosomy 10p
- ORPHA:96148 Distal monosomy 10q
- ORPHA:96149 Distal monosomy 12q
- ORPHA:1590 Distal monosomy 13q
- ORPHA:1596 Distal monosomy 15q
- ORPHA:1597 Distal monosomy 17q
- ORPHA:96129 Distal monosomy 19p13.3
- ORPHA:36367 Distal monosomy 1q
- ORPHA:1620 Distal monosomy 3p
- ORPHA:96125 Distal monosomy 6p
- ORPHA:1636 Distal monosomy 7q36
- ORPHA:1642 Distal monosomy 9p
- ORPHA:63273 Distal myopathy with posterior leg and anterior hand involvement
- ORPHA:399103 Distal nebulin myopathy
- OMIM:126250 Distal osteosclerosis
- ORPHA:314588 Distal tetrasomy 15q
- ORPHA:1707 Distal trisomy 15q
- ORPHA:3379 Distal trisomy 17q
- ORPHA:1716 Distal trisomy 18q
- ORPHA:96097 Distal trisomy 5q
- ORPHA:1745 Distal trisomy 6p
- ORPHA:293939 Distal Xq28 microduplication syndrome
- OMIM:126300 DISTICHIASIS
- OMIM:126320 Distichiasis with congenital anomalies of the heart and peripheral
- OMIM:223340 Dk phocomelia syndrome
- ORPHA:91131 DK1-CDG
- ORPHA:352470 DNA2-related mitochondrial DNA deletion syndrome
- ORPHA:231226 Dominant beta-thalassemia
- OMIM:222448 Donnai-Barrow syndrome
- ORPHA:2143 Donnai-Barrow syndrome
- OMIM:246200 Donohue syndrome
- OMIM:220500 Doors syndrome
- ORPHA:79500 DOORS syndrome
- ORPHA:255 Dopa-responsive dystonia
- ORPHA:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency
- ORPHA:230 Dopamine beta-hydroxylase deficiency
- ORPHA:3426 Double outlet right ventricle
- ORPHA:79145 Dowling-Degos disease
- OMIM:190685 Down syndrome
- ORPHA:870 Down syndrome
- ORPHA:86309 DPAGT1-CDG
- ORPHA:79322 DPM1-CDG
- ORPHA:33069 Dravet syndrome
- ORPHA:139402 Drug reaction with eosinophilia and systemic symptoms
- ORPHA:50817 Duane anomaly-myopathy-scoliosis syndrome
- ORPHA:233 Duane retraction syndrome
- OMIM:126800 Duane retraction syndrome 1
- OMIM:617041 Duane retraction syndrome 3 with or without deafness
- OMIM:607323 Duane-Radial ray syndrome
- OMIM:223370 Dubowitz syndrome
- ORPHA:235 Dubowitz syndrome
- ORPHA:314621 Duplication of the pituitary gland
- ORPHA:97339 Dural sinus malformation
- OMIM:127100 Dwarfism, Levi type
- OMIM:223540 Dwarfism, mental retardation, and eye abnormality
- OMIM:619955 Dworschak-Punetha neurodevelopmental syndrome
- OMIM:223800 Dyggve-Melchior-Clausen disease
- ORPHA:239 Dyggve-Melchior-Clausen disease
- OMIM:304950 Dyggve-Melchior-Clausen syndrome, X-linked
- ORPHA:464306 DYRK1A-related intellectual disability syndrome
- ORPHA:268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- ORPHA:412 Dysbetalipoproteinemia
- ORPHA:1765 Dyschondrosteosis-nephritis syndrome
- ORPHA:1775 Dyskeratosis congenita
- OMIM:613989 Dyskeratosis congenita, autosomal dominant 2
- OMIM:613990 Dyskeratosis congenita, autosomal dominant 3
- OMIM:616553 Dyskeratosis congenita, autosomal dominant 6
- OMIM:127550 Dyskeratosis congenita, autosomal dominant, 1
- OMIM:224230 Dyskeratosis congenita, autosomal recessive 1
- OMIM:615190 Dyskeratosis congenita, autosomal recessive 5
- OMIM:616353 Dyskeratosis congenita, autosomal recessive 6
- OMIM:620133 Dyskeratosis congenita, autosomal recessive 8
- OMIM:613987 Dyskeratosis congenita, autosomal recessive, 2
- OMIM:613988 Dyskeratosis congenita, autosomal recessive, 3
- OMIM:620040 Dyskeratosis congenita, digenic
- OMIM:305000 Dyskeratosis congenita, X-linked
- OMIM:127600 Dyskeratosis, hereditary benign intraepithelial
- OMIM:606703 Dyskinesia, familial, with facial myokymia
- OMIM:616921 Dyskinesia, limb and orofacial, infantile-onset
- ORPHA:1779 Dysmorphism-cleft palate-loose skin syndrome
- ORPHA:2104 Dysmorphism-pectus carinatum-joint laxity syndrome
- ORPHA:2282 Dysmorphism-short stature-deafness-disorder of sex development syndrome
- ORPHA:1782 Dysosteosclerosis
- OMIM:224300 DYSOSTEOSCLEROSIS
- OMIM:619345 Dysostosis multiplex, Ain-Naz type
- ORPHA:1798 Dysostosis, Stanescu type
- ORPHA:2204 Dysplastic cortical hyperostosis
- ORPHA:2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome
- OMIM:224400 Dyssegmental dysplasia, Rolland-Desbuquois type
- ORPHA:1865 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:224410 Dyssegmental dysplasia, Silverman-Handmaker type
- OMIM:128100 Dystonia 1, torsion, autosomal dominant
- OMIM:159900 Dystonia 11, myoclonic
- OMIM:128235 Dystonia 12
- OMIM:607671 Dystonia 13, torsion
- ORPHA:210571 Dystonia 16
- OMIM:612067 Dystonia 16
- OMIM:612406 Dystonia 17, torsion, autosomal recessive
- OMIM:224500 Dystonia 2, torsion, autosomal recessive
- OMIM:614588 Dystonia 21
- OMIM:614860 Dystonia 23
- OMIM:615034 Dystonia 24
- OMIM:615073 Dystonia 25
- OMIM:616398 Dystonia 26, myoclonic
- OMIM:616411 Dystonia 27
- ORPHA:589618 Dystonia 28
- OMIM:617284 Dystonia 28, childhood-onset
- OMIM:619291 Dystonia 30
- OMIM:619637 Dystonia 32
- OMIM:619724 Dystonia 34, myoclonic
- OMIM:128101 Dystonia 4, torsion, autosomal dominant
- OMIM:602629 Dystonia 6, torsion
- OMIM:602124 Dystonia 7, torsion
- OMIM:611694 Dystonia with cerebellar atrophy
- OMIM:617282 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
- OMIM:612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
- OMIM:128230 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
- OMIM:607371 Dystonia, juvenile-onset
- ORPHA:412217 Dystonia-aphonia syndrome
- ORPHA:521406 Dystonia-parkinsonism-hypermanganesemia syndrome
- ORPHA:89843 Dystrophic epidermolysis bullosa pruriginosa
Code pathologie
Nom de la pathologie
- ORPHA:40923 Eales disease
- ORPHA:2554 Ear-patella-short stature syndrome
- OMIM:128980 Earlobes, thickened, with conductive deafness from incudostapedialabnormalities
- ORPHA:1934 Early infantile epileptic encephalopathy
- ORPHA:488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ORPHA:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- ORPHA:2379 Early-onset parkinsonism-intellectual disability syndrome
- ORPHA:496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- ORPHA:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- OMIM:305100 Ectodermal dysplasia 1, hypohidrotic, X-linked
- OMIM:129490 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
- OMIM:224900 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- OMIM:614940 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- OMIM:614941 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- OMIM:617337 Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type
- OMIM:617392 Ectodermal dysplasia 13, Hair/tooth type
- OMIM:618180 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
- OMIM:618535 Ectodermal dysplasia 15, Hypohidrotic/hair type
- OMIM:602032 Ectodermal dysplasia 4, Hair/nail type
- OMIM:614927 Ectodermal dysplasia 5, Hair/nail type
- OMIM:614929 Ectodermal dysplasia 7, Hair/nail type
- OMIM:602401 Ectodermal dysplasia 8, Hair/tooth/nail type
- OMIM:614931 Ectodermal dysplasia 9, Hair/nail type
- OMIM:300291 Ectodermal dysplasia and immunodeficiency 1
- OMIM:129550 Ectodermal dysplasia with adrenal cyst
- OMIM:618727 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
- OMIM:600906 Ectodermal dysplasia with mental retardation and syndactyly
- OMIM:601345 Ectodermal dysplasia with natal teeth, Turnpenny type
- OMIM:612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
- OMIM:225280 Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
- OMIM:601375 Ectodermal dysplasia, hidrotic, Christianson-Fourie type
- OMIM:225050 Ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia
- OMIM:609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- ORPHA:1818 Ectodermal dysplasia, trichoodontoonychial type
- ORPHA:1806 Ectodermal dysplasia-blindness syndrome
- ORPHA:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:1883 Ectodermal dysplasia-sensorineural deafness syndrome
- ORPHA:158668 Ectodermal dysplasia-skin fragility syndrome
- OMIM:613573 Ectodermal dysplasia-syndactyly syndrome 1
- OMIM:613576 Ectodermal dysplasia-syndactyly syndrome 2
- OMIM:616029 Ectodermal dysplasia/short stature syndrome
- OMIM:604536 Ectodermal dysplasia/skin fragility syndrome
- ORPHA:231632 Ectopic aldosterone-producing tumor
- OMIM:129810 Ectrodactyly and ectodermal dysplasia without cleft lip/palate
- OMIM:604292 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
- OMIM:129900 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1
- OMIM:129830 Ectrodactyly-Cleft palate syndrome
- OMIM:129850 Edinburgh malformation syndrome
- ORPHA:1895 Edinburgh malformation syndrome
- ORPHA:1896 EEC syndrome
- ORPHA:1897 EEM syndrome
- OMIM:130060 Ehlers-Danlos syndrome, arthrochalasia type, 1
- OMIM:617821 Ehlers-Danlos syndrome, arthrochalasia type, 2
- OMIM:608763 Ehlers-danlos syndrome, Beasley-Cohen type
- OMIM:130010 Ehlers-Danlos syndrome, classic type, 2
- OMIM:618000 Ehlers-Danlos syndrome, classic-like, 2
- OMIM:225400 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- OMIM:614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- OMIM:601776 Ehlers-Danlos syndrome, musculocontractural type 1
- OMIM:615539 Ehlers-Danlos syndrome, musculocontractural type, 2
- OMIM:130080 Ehlers-Danlos syndrome, periodontal type, 1
- OMIM:617174 Ehlers-Danlos syndrome, periodontal type, 2
- OMIM:130070 Ehlers-Danlos syndrome, spondylodysplastic type, 1
- OMIM:615349 Ehlers-Danlos syndrome, spondylodysplastic type, 2
- OMIM:612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3
- OMIM:130000 Ehlers-danlos syndrome, type I
- OMIM:225410 Ehlers-Danlos syndrome, type VII, autosomal recessive
- OMIM:130050 Ehlers-Danlos syndrome, Vascular type
- OMIM:600002 Eiken syndrome
- ORPHA:79148 Elastosis perforans serpiginosa
- ORPHA:289 Ellis Van Creveld syndrome
- OMIM:225500 Ellis-Van creveld syndrome
- OMIM:211380 Elsahy-Waters syndrome
- ORPHA:96170 Emanuel syndrome
- OMIM:609029 Emanuel syndrome
- OMIM:310300 Emery-Dreifuss muscular dystrophy 1, X-linked
- OMIM:181350 Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- ORPHA:1927 Emery-Nelson syndrome
- ORPHA:1031 Enamel-renal syndrome
- ORPHA:83600 Encephalitis lethargica
- ORPHA:2396 Encephalocraniocutaneous lipomatosis
- OMIM:613001 Encephalocraniocutaneous lipomatosis
- OMIM:225700 Encephalomalacia, multilocular
- OMIM:614520 Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
- OMIM:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission 1
- OMIM:617086 Encephalopathy due to defective mitochondrial and peroxisomal fission 2
- ORPHA:833 Encephalopathy due to sulfite oxidase deficiency
- OMIM:616532 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
- OMIM:618426 Encephalopathy, acute, infection-induced, susceptibility to, 9
- OMIM:300673 Encephalopathy, neonatal severe, due to mecp2 mutations
- OMIM:617668 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
- OMIM:617669 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity
- OMIM:617193 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
- OMIM:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
- OMIM:618321 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
- OMIM:618331 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
- ORPHA:2022 Endocardial fibroelastosis
- OMIM:612651 ENDOCRINE-CEREBROOSTEODYSPLASIA
- ORPHA:2790 Endosteal hyperostosis, Worth type
- OMIM:619218 ENDOVE syndrome, limb-brain type
- ORPHA:60015 Enlarged parietal foramina
- OMIM:131400 Eosinophilia, familial
- ORPHA:2070 Eosinophilic gastroenteritis
- ORPHA:183 Eosinophilic granulomatosis with polyangiitis
- OMIM:131430 EOSINOPHILOPENIA
- ORPHA:35125 Epidermal nevus syndrome
- OMIM:618307 Epidermodysplasia verruciformis, susceptibility to, 4
- OMIM:226600 Epidermolysis bullosa dystrophica, autosomal recessive
- OMIM:131900 Epidermolysis bullosa simplex 1B, generalized intermediate
- OMIM:601001 Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
- OMIM:619555 Epidermolysis bullosa simplex 2A, generalized severe
- OMIM:619599 Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive
- ORPHA:2325 Epidermolysis bullosa simplex with anodontia/hypodontia
- ORPHA:158681 Epidermolysis bullosa simplex with circinate migratory erythema
- ORPHA:79397 Epidermolysis bullosa simplex with mottled pigmentation
- OMIM:226670 Epidermolysis bullosa simplex with muscular dystrophy
- ORPHA:257 Epidermolysis bullosa simplex with muscular dystrophy
- OMIM:612138 Epidermolysis bullosa simplex with pyloric atresia
- ORPHA:158684 Epidermolysis bullosa simplex with pyloric atresia
- OMIM:131760 Epidermolysis bullosa simplex, Dowling-Meara type
- OMIM:617294 Epidermolysis bullosa simplex, generalized, with scarring and hair loss
- OMIM:132000 Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails
- OMIM:619783 Epidermolysis bullosa, junctional 2A, intermediate
- OMIM:619784 Epidermolysis bullosa, junctional 2B, severe
- OMIM:619785 Epidermolysis bullosa, junctional 3A, intermediate
- OMIM:619786 Epidermolysis bullosa, junctional 3B, severe
- OMIM:619787 Epidermolysis bullosa, junctional 4, intermediate
- OMIM:619816 Epidermolysis bullosa, junctional 5A, intermediate
- OMIM:619817 Epidermolysis bullosa, junctional 6, with pyloric atresia
- OMIM:226700 Epidermolysis bullosa, junctional, Herlitz type
- OMIM:226650 Epidermolysis bullosa, junctional, Non-Herlitz type
- OMIM:226730 Epidermolysis bullosa, junctional, with pyloric atresia
- OMIM:609638 Epidermolysis bullosa, lethal acantholytic
- OMIM:617290 Epilepsy, early-onset, vitamin b6-dependent
- OMIM:617935 Epilepsy, familial focal, with variable foci 4
- OMIM:600512 Epilepsy, familial temporal lobe, 1
- OMIM:245570 Epilepsy, focal, with speech disorder and with or without mental retardation
- OMIM:616577 Epilepsy, hearing loss, and mental retardation syndrome
- OMIM:618596 Epilepsy, idiopathic generalized, susceptibility to, 16
- OMIM:611726 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
- OMIM:616540 Epilepsy, progressive myoclonic, 9
- OMIM:301091 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
- OMIM:300491 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
- ORPHA:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome
- OMIM:226850 EPILEPSY-TELANGIECTASIA
- ORPHA:1951 Epilepsy-telangiectasia syndrome
- OMIM:614558 Epileptic encephalopathy, early infantile, 13
- OMIM:614959 Epileptic encephalopathy, early infantile, 14
- OMIM:615338 Epileptic encephalopathy, early infantile, 16
- OMIM:615476 Epileptic encephalopathy, early infantile, 18
- OMIM:615859 Epileptic encephalopathy, early infantile, 23
- OMIM:615905 Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
- OMIM:616211 Epileptic encephalopathy, early infantile, 28
- OMIM:616339 Epileptic encephalopathy, early infantile, 29
- OMIM:609304 Epileptic encephalopathy, early infantile, 3
- OMIM:616645 Epileptic encephalopathy, early infantile, 34
- OMIM:616647 Epileptic encephalopathy, early infantile, 35
- OMIM:300884 Epileptic encephalopathy, early infantile, 36
- OMIM:612949 Epileptic encephalopathy, early infantile, 39
- OMIM:617105 Epileptic encephalopathy, early infantile, 41
- OMIM:617132 Epileptic encephalopathy, early infantile, 44
- OMIM:617162 Epileptic encephalopathy, early infantile, 46
- OMIM:617166 Epileptic encephalopathy, early infantile, 47
- OMIM:617281 Epileptic encephalopathy, early infantile, 49
- OMIM:613477 Epileptic encephalopathy, early infantile, 5
- OMIM:617391 Epileptic encephalopathy, early infantile, 54
- OMIM:617599 Epileptic encephalopathy, early infantile, 55
- OMIM:617904 Epileptic encephalopathy, early infantile, 59
- OMIM:607208 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
- OMIM:617933 Epileptic encephalopathy, early infantile, 61
- OMIM:617976 Epileptic encephalopathy, early infantile, 63
- OMIM:618004 Epileptic encephalopathy, early infantile, 64
- OMIM:618067 Epileptic encephalopathy, early infantile, 66
- OMIM:618201 Epileptic encephalopathy, early infantile, 68
- OMIM:618437 Epileptic encephalopathy, early infantile, 75
- OMIM:618468 Epileptic encephalopathy, early infantile, 76
- OMIM:618548 Epileptic encephalopathy, early infantile, 77
- OMIM:618557 Epileptic encephalopathy, early infantile, 78
- OMIM:618559 Epileptic encephalopathy, early infantile, 79
- OMIM:618580 Epileptic encephalopathy, early infantile, 80
- OMIM:618663 Epileptic encephalopathy, early infantile, 81
- OMIM:618721 Epileptic encephalopathy, early infantile, 82
- OMIM:618744 Epileptic encephalopathy, early infantile, 83
- OMIM:618792 Epileptic encephalopathy, early infantile, 84
- OMIM:618910 Epileptic encephalopathy, early infantile, 86
- OMIM:618916 Epileptic encephalopathy, early infantile, 87
- OMIM:618959 Epileptic encephalopathy, early infantile, 88
- OMIM:617829 Epileptic encephalopathy, infantile or early childhood, 2
- OMIM:618012 Epileptic encephalopathy, infantile or early childhood, 3
- OMIM:600204 Epiphyseal dysplasia, multiple, 2
- OMIM:226980 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
- OMIM:132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness
- ORPHA:1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- ORPHA:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome
- ORPHA:37612 Episodic ataxia type 1
- OMIM:128200 Episodic kinesigenic dyskinesia 1
- OMIM:132500 Epistaxis, hereditary
- ORPHA:293381 Epithelial recurrent erosion dystrophy
- ORPHA:35687 Erdheim-Chester disease
- ORPHA:999 Ermine phenotype
- OMIM:227010 Ermine phenotype
- ORPHA:222 Erosive pustular dermatosis of the scalp
- OMIM:227000 Erythema of acral regions
- OMIM:133020 Erythermalgia, primary
- OMIM:609165 Erythroderma, ichthyosiform, congenital reticular
- ORPHA:317 Erythrokeratodermia variabilis
- OMIM:265000 Escobar syndrome
- ORPHA:1199 Esophageal atresia
- ORPHA:31826 Ethylene glycol poisoning
- ORPHA:1959 Evans syndrome
- OMIM:616854 Even-Plus syndrome
- OMIM:612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis
- ORPHA:322 Exstrophy-epispadias complex
- OMIM:133705 External auditory canal, bilateral atresia of, with congenital verticaltalus
- ORPHA:494424 Extracranial carotid artery aneurysm
- OMIM:618148 Extraoral halitosis due to MTO deficiency
- OMIM:133750 Extrasystoles, multiform ventricular, with short stature, hyperpigmentationand microcephaly
- ORPHA:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- ORPHA:2725 Eye defects-arachnodactyly-cardiopathy syndrome
Code pathologie
Nom de la pathologie
- ORPHA:324 Fabry disease
- OMIM:227250 Facial abnormalities, kyphoscoliosis, and mental retardation
- OMIM:600251 Facial clefting, oblique, 1
- OMIM:227255 Facial dysmorphism with multiple malformations
- OMIM:618381 Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
- OMIM:615139 Facial dysmorphism, immunodeficiency, livedo, and short stature
- OMIM:601552 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
- ORPHA:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- ORPHA:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- ORPHA:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- ORPHA:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- ORPHA:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome
- OMIM:617732 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- OMIM:134200 Facial palsy, familial recurrent peripheral
- OMIM:601471 Facial paresis, hereditary congenital, 1
- OMIM:604185 Facial paresis, hereditary congenital, 2
- OMIM:614744 Facial paresis, hereditary congenital, 3
- OMIM:227270 Faciocardiomelic dysplasia, lethal
- OMIM:612731 Faciocardiomelic syndrome
- ORPHA:1973 Faciocardiorenal syndrome
- OMIM:227280 Faciocardiorenal syndrome
- OMIM:227330 Faciodigitogenital syndrome, autosomal recessive
- ORPHA:269 Facioscapulohumeral dystrophy
- OMIM:158900 Facioscapulohumeral muscular dystrophy 1
- OMIM:158901 Facioscapulohumeral muscular dystrophy 2
- OMIM:619477 Facioscapulohumeral muscular dystrophy 3, digenic
- OMIM:619478 Facioscapulohumeral muscular dystrophy 4, digenic
- OMIM:227320 Faciothoracogenital syndrome
- OMIM:613625 Factor V and factor VIII, combined deficiency of
- OMIM:227400 Factor V deficiency
- OMIM:227500 Factor VII deficiency
- OMIM:227600 Factor X deficiency
- OMIM:613225 Factor XIII, A subunit, deficiency of
- OMIM:601127 Fallot complex with severe mental and growth retardation
- ORPHA:3304 Fallot complex-intellectual disability-growth delay syndrome
- ORPHA:733 Familial adenomatous polyposis
- ORPHA:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion
- ORPHA:98880 Familial afibrinogenemia
- ORPHA:228277 Familial anetoderma
- ORPHA:1551 Familial benign copper deficiency
- ORPHA:36382 Familial cervical artery dissection
- OMIM:611762 Familial cold autoinflammatory syndrome 2
- OMIM:614468 Familial cold autoinflammatory syndrome 3
- OMIM:120100 Familial cold inflammatory syndrome 1
- ORPHA:47045 Familial cold urticaria
- ORPHA:98881 Familial dysfibrinogenemia
- ORPHA:324588 Familial dyskinesia and facial myokymia
- OMIM:174810 Familial expansile osteolysis
- ORPHA:891 Familial exudative vitreoretinopathy
- ORPHA:403 Familial hyperaldosteronism type I
- ORPHA:404 Familial hyperaldosteronism type II
- ORPHA:251274 Familial hyperaldosteronism type III
- ORPHA:101041 Familial hypofibrinogenemia
- ORPHA:1677 Familial idiopathic dilatation of the right atrium
- ORPHA:352582 Familial infantile myoclonic epilepsy
- ORPHA:508410 Familial intestinal malrotation
- ORPHA:2238 Familial isolated hypoparathyroidism
- ORPHA:493 Familial keratoacanthoma
- ORPHA:401942 Familial median cleft of the upper and lower lips
- ORPHA:342 Familial Mediterranean fever
- OMIM:249100 Familial Mediterranean fever, AR
- ORPHA:199276 Familial multiple lipomatosis
- ORPHA:922 Familial nasal acilia
- ORPHA:569 Familial or sporadic hemiplegic migraine
- ORPHA:2769 Familial osteodysplasia, Anderson type
- ORPHA:319487 Familial papillary or follicular thyroid carcinoma
- ORPHA:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia
- ORPHA:97 Familial paroxysmal ataxia
- ORPHA:2348 Familial partial lipodystrophy, Dunnigan type
- ORPHA:79147 Familial reactive perforating collagenosis
- ORPHA:168624 Familial scaphocephaly syndrome, McGillivray type
- OMIM:609579 Familial scaphocephaly syndrome, Mcgillivray type
- ORPHA:91387 Familial thoracic aortic aneurysm and aortic dissection
- ORPHA:95716 Familial thyroid dyshormonogenesis
- ORPHA:53715 Familial tumoral calcinosis
- ORPHA:2604 Familial visceral myopathy
- OMIM:227650 Fanconi anemia
- ORPHA:84 Fanconi anemia
- OMIM:300514 Fanconi anemia, complementation group B
- OMIM:227645 Fanconi anemia, complementation group C
- OMIM:605724 Fanconi anemia, complementation group D1
- OMIM:227646 Fanconi anemia, complementation group D2
- OMIM:600901 Fanconi anemia, complementation group E
- OMIM:603467 Fanconi anemia, complementation group F
- OMIM:614082 Fanconi anemia, complementation group G
- OMIM:609053 Fanconi anemia, complementation group I
- OMIM:614083 Fanconi anemia, complementation group L
- OMIM:610832 Fanconi anemia, complementation group N
- OMIM:613951 Fanconi anemia, complementation group P
- OMIM:615272 Fanconi anemia, complementation group Q
- OMIM:617244 Fanconi anemia, complementation group R
- OMIM:617883 Fanconi anemia, complementation group S
- OMIM:617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U
- OMIM:617243 Fanconi anemia, complementation group V
- OMIM:617784 Fanconi anemia, complementation group W
- ORPHA:2088 Fanconi-Bickel syndrome
- ORPHA:333 Farber disease
- OMIM:228000 Farber lipogranulomatosis
- ORPHA:17 Fatal infantile lactic acidosis with methylmalonic aciduria
- ORPHA:438178 Fatty acyl-CoA reductase 1 deficiency
- OMIM:619376 Faundes-Banka syndrome
- ORPHA:404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- ORPHA:163703 Febrile infection-related epilepsy syndrome
- ORPHA:1305 Feingold syndrome
- OMIM:164280 Feingold syndrome 1
- OMIM:614326 Feingold syndrome 2
- ORPHA:391641 Feingold syndrome type 1
- ORPHA:391646 Feingold syndrome type 2
- ORPHA:47612 Felty syndrome
- OMIM:134780 Femoral-facial syndrome
- ORPHA:1988 Femoral-facial syndrome
- OMIM:619699 Ferguson-Bonni neurodevelopmental syndrome
- ORPHA:994 Fetal akinesia deformation sequence
- OMIM:208150 Fetal akinesia deformation sequence
- OMIM:618388 Fetal akinesia deformation sequence 2
- OMIM:618389 Fetal akinesia deformation sequence 3
- OMIM:618393 Fetal akinesia deformation sequence 4
- OMIM:300073 Fetal akinesia syndrome, X-linked
- OMIM:619602 Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
- ORPHA:1915 Fetal alcohol syndrome
- ORPHA:85212 Fetal Gaucher disease
- ORPHA:1912 Fetal hydantoin syndrome
- ORPHA:1917 Fetal methylmercury syndrome
- ORPHA:1918 Fetal minoxidil syndrome
- ORPHA:295 Fetal parvovirus syndrome
- ORPHA:1913 Fetal trimethadione syndrome
- ORPHA:1906 Fetal valproate spectrum disorder
- OMIM:300321 Fg syndrome 2
- OMIM:300422 Fg syndrome 4
- ORPHA:93932 FG syndrome type 1
- ORPHA:313855 FGFR2-related bent bone dysplasia
- ORPHA:2021 Fibrochondrogenesis
- OMIM:228520 Fibrochondrogenesis 1
- OMIM:614524 Fibrochondrogenesis 2
- OMIM:135100 Fibrodysplasia ossificans progressiva
- OMIM:135300 Fibromatosis, gingival, 1
- OMIM:617626 Fibromatosis, gingival, 5
- OMIM:228560 Fibromatosis, gingival, with distinctive facies
- OMIM:135550 Fibromatosis, gingival, with progressive deafness
- OMIM:619329 Fibromuscular dysplasia, multifocal
- OMIM:228800 Fibrosclerosis, multifocal
- OMIM:135700 Fibrosis of extraocular muscles, congenital, 1
- OMIM:602078 Fibrosis of extraocular muscles, congenital, 2
- OMIM:600638 Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement
- OMIM:609384 Fibrosis of extraocular muscles, congenital, 3B
- ORPHA:249 Fibrous dysplasia of bone
- ORPHA:2639 Fibular aplasia-complex brachydactyly syndrome
- ORPHA:1757 Fibular dimelia-diplopodia syndrome
- ORPHA:93323 Fibular hemimelia
- ORPHA:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome
- OMIM:228940 Fibuloulnar aplasia or hypoplasia with renal abnormalities
- OMIM:272440 Filippi syndrome
- ORPHA:3255 Filippi syndrome
- ORPHA:293812 Fixed drug eruption
- ORPHA:1968 Flat face-microstomia-ear anomaly syndrome
- ORPHA:555877 FLNA-related X-linked myxomatous valvular dysplasia
- OMIM:136140 Floating-Harbor syndrome
- ORPHA:2044 Floating-Harbor syndrome
- ORPHA:83451 Florid cemento-osseous dysplasia
- ORPHA:2045 FLOTCH syndrome
- OMIM:136300 Flynn-Aird syndrome
- ORPHA:2047 Flynn-Aird syndrome
- ORPHA:2092 Focal dermal hypoplasia
- OMIM:305600 Focal dermal hypoplasia
- OMIM:136400 Focal epithelial hyperplasia of the oral mucosa
- OMIM:229045 Focal epithelial hyperplasia, oral
- OMIM:136500 Focal facial dermal dysplasia 1, Brauer type
- OMIM:227260 Focal facial dermal dysplasia 3, Setleis type
- OMIM:614974 Focal facial dermal dysplasia 4
- ORPHA:79133 Focal facial dermal dysplasia type I
- ORPHA:398173 Focal facial dermal dysplasia type II
- ORPHA:1807 Focal facial dermal dysplasia type III
- ORPHA:398189 Focal facial dermal dysplasia type IV
- ORPHA:2200 Focal palmoplantar and gingival keratoderma
- OMIM:619428 Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- OMIM:229050 Folate malabsorption, hereditary
- OMIM:612289 Fontaine progeroid syndrome
- ORPHA:228371 Foodborne botulism
- OMIM:613606 Forsythe-Wakeling syndrome
- OMIM:229120 Fountain syndrome
- ORPHA:3219 Fountain syndrome
- ORPHA:561854 FOXG1 syndrome
- ORPHA:261144 FOXG1 syndrome due to 14q12 microdeletion
- ORPHA:137834 Frank-Ter Haar syndrome
- OMIM:249420 Frank-ter Haar syndrome
- OMIM:219000 Fraser syndrome
- ORPHA:2052 Fraser syndrome
- OMIM:617666 Fraser syndrome 2
- OMIM:617667 Fraser syndrome 3
- ORPHA:834 Free sialic acid storage disease
- ORPHA:2053 Freeman-Sheldon syndrome
- OMIM:229250 Freesia flowers, inability to smell
- OMIM:609640 Frias syndrome
- ORPHA:85335 Fried syndrome
- ORPHA:1931 Frontal encephalocele
- ORPHA:1791 Frontofacionasal dysplasia
- OMIM:229400 Frontofacionasal dysplasia
- ORPHA:1826 Frontometaphyseal dysplasia
- OMIM:305620 Frontometaphyseal dysplasia
- OMIM:617137 Frontometaphyseal dysplasia 2
- OMIM:136760 Frontonasal dysplasia 1
- OMIM:613451 Frontonasal dysplasia 2
- OMIM:613456 Frontonasal dysplasia 3
- OMIM:203000 Frontonasal dysplasia with alar clefts
- ORPHA:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- ORPHA:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- OMIM:605321 Frontoocular syndrome
- ORPHA:391474 Frontorhiny
- OMIM:229600 Fructose intolerance, hereditary
- OMIM:600776 Fryns microphthalmia syndrome
- OMIM:229850 Fryns syndrome
- ORPHA:2059 Fryns syndrome
- ORPHA:2058 Fryns-Smeets-Thiry syndrome
- OMIM:230000 FUCOSIDOSIS
- ORPHA:349 Fucosidosis
- ORPHA:637 Full NF2-related schwannomatosis
- OMIM:606812 Fumarase deficiency
- ORPHA:228119 Fusariosis
- ORPHA:2287 Fused mandibular incisors
Code pathologie
Nom de la pathologie
- OMIM:613163 GABA-transaminase deficiency
- OMIM:617557 Gabriele-De vries syndrome
- ORPHA:506358 Gabriele-de Vries syndrome
- ORPHA:79237 Galactokinase deficiency
- ORPHA:351 Galactosialidosis
- OMIM:256540 Galactosialidosis
- ORPHA:2065 Galloway-Mowat syndrome
- OMIM:251300 Galloway-mowat syndrome 1
- OMIM:619609 Galloway-Mowat syndrome 10
- OMIM:301006 Galloway-Mowat syndrome 2, X-linked
- OMIM:617729 Galloway-Mowat syndrome 3
- OMIM:617730 Galloway-Mowat syndrome 4
- OMIM:617731 Galloway-Mowat syndrome 5
- OMIM:618347 Galloway-Mowat syndrome 6
- OMIM:618348 Galloway-Mowat syndrome 7
- OMIM:618349 Galloway-Mowat syndrome 8
- OMIM:619603 Galloway-Mowat syndrome 9
- ORPHA:100026 Gamma-heavy chain disease
- ORPHA:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- ORPHA:251992 Ganglioneuroma
- OMIM:230740 Gapo syndrome
- ORPHA:2067 GAPO syndrome
- ORPHA:79665 Gardner syndrome
- OMIM:137215 Gastric cancer, hereditary diffuse
- ORPHA:2069 Gastrocutaneous syndrome
- OMIM:243150 Gastrointestinal defects and immunodeficiency syndrome
- OMIM:619708 Gastrointestinal defects and immunodeficiency syndrome 2
- ORPHA:355 Gaucher disease
- ORPHA:77259 Gaucher disease type 1
- OMIM:608013 Gaucher disease, perinatal lethal
- OMIM:230800 Gaucher disease, type I
- OMIM:230900 Gaucher disease, type II
- ORPHA:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
- OMIM:607313 Gaze palsy, familial horizontal, with progressive scoliosis, 1
- ORPHA:438274 GCGR-related hyperglucagonemia
- OMIM:231050 Geleophysic dysplasia 1
- OMIM:614185 Geleophysic dysplasia 2
- OMIM:617809 Geleophysic dysplasia 3
- ORPHA:51608 Generalized arterial calcification of infancy
- OMIM:618482 Generalized epilepsy with febrile seizures plus, type 10
- ORPHA:411777 Generalized eruptive keratoacanthoma
- ORPHA:171876 Generalized pseudohypoaldosteronism type 1
- ORPHA:99845 Genetic recurrent myoglobinuria
- ORPHA:656 Genetic steroid-resistant nephrotic syndrome
- ORPHA:226316 Genetic transient congenital hypothyroidism
- ORPHA:2075 Genitopalatocardiac syndrome
- OMIM:231060 Genitopalatocardiac syndrome
- ORPHA:85201 Genitopatellar syndrome
- OMIM:606170 Genitopatellar syndrome
- OMIM:618820 Genitourinary and/or/brain malformation syndrome
- ORPHA:2077 German syndrome
- ORPHA:2078 Geroderma osteodysplastica
- OMIM:231070 Geroderma osteodysplasticum
- OMIM:231095 Ghosal hematodiaphyseal dysplasia
- ORPHA:1802 Ghosal hematodiaphyseal dysplasia
- OMIM:612917 Giacheti syndrome
- ORPHA:643 Giant axonal neuropathy
- OMIM:256850 Giant axonal neuropathy 1, autosomal recessive
- ORPHA:397 Giant cell arteritis
- OMIM:137575 Gigantiform cementoma, familial
- OMIM:263210 Gillessen-Kaesbach-Nishimura syndrome
- ORPHA:2025 Gingival fibromatosis-facial dysmorphism syndrome
- ORPHA:2026 Gingival fibromatosis-hypertrichosis syndrome
- ORPHA:2027 Gingival fibromatosis-progressive deafness syndrome
- ORPHA:568051 GJC2-related late-onset primary lymphedema
- OMIM:273800 Glanzmann thrombasthenia
- ORPHA:849 Glanzmann thrombasthenia
- OMIM:619267 Glanzmann thrombasthenia 2
- OMIM:612313 Glass syndrome
- OMIM:619243 Global developmental delay with speech and behavioral abnormalities
- OMIM:617260 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
- OMIM:618272 Global developmental delay, lung cysts, overgrowth, and wilms tumor
- ORPHA:544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:73223 Global developmental delay-osteopenia-ectodermal defect syndrome
- ORPHA:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- ORPHA:83454 Glomuvenous malformation
- ORPHA:221098 Glossopharyngeal neuralgia
- ORPHA:97280 Glucagonoma
- OMIM:606777 GLUT1 deficiency syndrome 1, infantile onset, severe
- OMIM:610015 Glutamine deficiency, congenital
- OMIM:231670 Glutaric acidemia I
- ORPHA:25 Glutaryl-CoA dehydrogenase deficiency
- OMIM:307030 Glycerol kinase deficiency
- OMIM:617301 Glycine encephalopathy with normal serum glycine
- ORPHA:365 Glycogen storage disease due to acid maltase deficiency
- ORPHA:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
- ORPHA:364 Glycogen storage disease due to glucose-6-phosphatase deficiency
- ORPHA:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- ORPHA:366 Glycogen storage disease due to glycogen debranching enzyme deficiency
- ORPHA:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- OMIM:232200 Glycogen storage disease Ia
- OMIM:232220 Glycogen storage disease Ib
- OMIM:232240 Glycogen storage disease Ic
- OMIM:232300 Glycogen storage disease II
- OMIM:232400 Glycogen storage disease III
- OMIM:261740 Glycogen storage disease of heart, lethal congenital
- OMIM:611881 Glycogen storage disease XII
- OMIM:616025 Glycosylphosphatidylinositol biosynthesis defect 11
- OMIM:617810 Glycosylphosphatidylinositol biosynthesis defect 15
- OMIM:618010 Glycosylphosphatidylinositol biosynthesis defect 17
- OMIM:618143 Glycosylphosphatidylinositol biosynthesis defect 18
- ORPHA:354 GM1 gangliosidosis
- ORPHA:79255 GM1 gangliosidosis type 1
- OMIM:230500 GM1-gangliosidosis, type I
- OMIM:230600 GM1-gangliosidosis, type II
- OMIM:230650 GM1-gangliosidosis, type III
- ORPHA:309246 GM2 gangliosidosis, AB variant
- ORPHA:363623 GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:2090 GMS syndrome
- OMIM:138770 Gms syndrome
- ORPHA:53697 Gnathodiaphyseal dysplasia
- ORPHA:602 GNE myopathy
- ORPHA:66629 Goldberg-Shprintzen megacolon syndrome
- OMIM:609460 Goldberg-Shprintzen syndrome
- OMIM:233270 Gombo syndrome
- OMIM:601853 Gomez-Lopez-Hernandez syndrome
- ORPHA:1532 Gómez-López-Hernández syndrome
- OMIM:618419 Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- ORPHA:169105 Good syndrome
- ORPHA:376 Gordon syndrome
- ORPHA:73 Gorham-Stout disease
- ORPHA:377 Gorlin syndrome
- ORPHA:2095 Gorlin-Chaudhry-Moss syndrome
- OMIM:602361 Gracile bone dysplasia
- ORPHA:39812 Graft versus host disease
- ORPHA:505 Graham Little-Piccardi-Lassueur syndrome
- OMIM:138930 Grant syndrome
- ORPHA:2097 Grant syndrome
- ORPHA:900 Granulomatosis with polyangiitis
- OMIM:608710 Granulomatosis with polyangiitis
- ORPHA:721 Gray platelet syndrome
- OMIM:139090 Gray platelet syndrome
- ORPHA:1426 Greenberg dysplasia
- OMIM:215140 Greenberg skeletal dysplasia
- OMIM:175700 Greig cephalopolysyndactyly syndrome
- ORPHA:380 Greig cephalopolysyndactyly syndrome
- ORPHA:97261 GRFoma
- ORPHA:381 Griscelli syndrome
- OMIM:214450 Griscelli syndrome, type 1
- OMIM:609227 Griscelli syndrome, type 3
- ORPHA:73273 Growth delay due to insulin-like growth factor I resistance
- ORPHA:73272 Growth delay due to insulin-like growth factor type 1 deficiency
- ORPHA:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome
- ORPHA:541423 Growth delay-intellectual disability-hepatopathy syndrome
- OMIM:608278 Growth failure, microcephaly, mental retardation, cataracts, largejoint contractures, osteoporosis, cortical dysplasia, and cerebellaratrophy
- OMIM:262400 Growth hormone deficiency, isolated, type IA
- ORPHA:181393 Growth hormone insensitivity syndrome
- OMIM:245590 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- OMIM:618985 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant
- OMIM:619321 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
- OMIM:612938 Growth retardation, developmental delay, coarse facies, and earlydeath
- OMIM:617093 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
- OMIM:233810 Growth retardation, small and puffy hands and feet, and eczema
- ORPHA:2101 Grubben-de Cock-Borghgraef syndrome
Code pathologie
Nom de la pathologie
- ORPHA:168569 H syndrome
- OMIM:612946 Hadziselimovic syndrome
- OMIM:245010 Haim-Munk syndrome
- OMIM:234030 Hair defect with photosensitivity and mental retardation
- OMIM:139600 Hairy elbows
- OMIM:234250 Hall-Riggs mental retardation syndrome
- ORPHA:2107 Hall-Riggs syndrome
- ORPHA:2108 Hallermann-Streiff syndrome
- OMIM:234100 Hallermann-Streiff syndrome
- OMIM:611174 Hamamy syndrome
- ORPHA:93946 Hamel cerebro-palato-cardiac syndrome
- OMIM:139750 Hand and foot deformity with flat facies
- OMIM:301068 Hardikar syndrome
- OMIM:617183 Harel-Yoon syndrome
- ORPHA:457 Harlequin ichthyosis
- OMIM:601095 Harrod syndrome
- ORPHA:2115 Harrod syndrome
- ORPHA:2116 Hartnup disease
- OMIM:234500 Hartnup disorder
- ORPHA:2117 Hartsfield syndrome
- OMIM:615465 Hartsfield syndrome
- OMIM:140350 Hawkinsinuria
- ORPHA:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- OMIM:616920 Heart and brain malformation syndrome
- ORPHA:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome
- ORPHA:1350 Heart-hand syndrome type 2
- OMIM:234580 Heimler syndrome 1
- OMIM:616617 Heimler syndrome 2
- OMIM:617671 Helix syndrome
- OMIM:615873 Helsmoortel-van der Aa syndrome
- ORPHA:252054 Hemangioblastoma
- OMIM:614034 Heme oxygenase-1 deficiency
- ORPHA:306741 Hemidystonia-hemiatrophy syndrome
- OMIM:141300 Hemifacial atrophy, progressive
- OMIM:133900 Hemifacial hyperplasia
- OMIM:141350 Hemifacial hyperplasia with strabismus
- OMIM:164210 Hemifacial microsomia
- OMIM:141400 Hemifacial microsomia with radial defects
- ORPHA:99802 Hemimegalencephaly
- ORPHA:306669 Hemiparkinsonism-hemiatrophy syndrome
- OMIM:603552 Hemophagocytic lymphohistiocytosis, familial, 4
- OMIM:613101 Hemophagocytic lymphohistiocytosis, familial, 5
- ORPHA:158048 Hemophagocytic syndrome associated with an infection
- OMIM:613730 Hemorrhagic destruction of the brain, subependymal calcification,and cataracts
- ORPHA:340 Hemorrhagic fever-renal syndrome
- OMIM:619641 Hengel-Maroofian-Schols syndrome
- OMIM:235510 Hennekam lymphangiectasia-lymphedema syndrome
- OMIM:616006 Hennekam lymphangiectasia-lymphedema syndrome 2
- OMIM:618154 Hennekam lymphangiectasia-lymphedema syndrome 3
- ORPHA:2136 Hennekam syndrome
- ORPHA:2135 Hennekam-Beemer syndrome
- ORPHA:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome
- ORPHA:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome
- OMIM:235550 Hepatic venoocclusive disease with immunodeficiency
- OMIM:618549 Hepatitis, fulminant viral, susceptibility to
- ORPHA:95159 Hepatoerythropoietic porphyria
- ORPHA:2907 Hereditary acrokeratotic poikiloderma
- ORPHA:100050 Hereditary angioedema type 1
- ORPHA:1867 Hereditary bullous dystrophy, macular type
- ORPHA:79273 Hereditary coproporphyria
- ORPHA:168577 Hereditary cryohydrocytosis with reduced stomatin
- ORPHA:288 Hereditary elliptocytosis
- ORPHA:90045 Hereditary folate malabsorption
- ORPHA:53372 Hereditary geniospasm
- ORPHA:2024 Hereditary gingival fibromatosis
- ORPHA:774 Hereditary hemorrhagic telangiectasia
- ORPHA:411602 Hereditary late-onset Parkinson disease
- ORPHA:621 Hereditary methemoglobinemia
- OMIM:601152 Hereditary motor and sensory neuropathy VI
- ORPHA:1839 Hereditary mucoepithelial dysplasia
- ORPHA:30 Hereditary orotic aciduria
- ORPHA:29072 Hereditary pheochromocytoma-paraganglioma
- ORPHA:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- ORPHA:970 Hereditary sensory and autonomic neuropathy type 2
- ORPHA:642 Hereditary sensory and autonomic neuropathy type 4
- ORPHA:64752 Hereditary sensory and autonomic neuropathy type 5
- ORPHA:79430 Hermansky-Pudlak syndrome
- OMIM:203300 Hermansky-Pudlak syndrome 1
- OMIM:617050 Hermansky-Pudlak syndrome 10
- OMIM:619172 Hermansky-Pudlak syndrome 11
- OMIM:608233 Hermansky-Pudlak syndrome 2
- OMIM:614072 Hermansky-Pudlak syndrome 3
- OMIM:614073 Hermansky-Pudlak syndrome 4
- OMIM:614074 Hermansky-Pudlak syndrome 5
- OMIM:614075 Hermansky-Pudlak syndrome 6
- OMIM:614076 Hermansky-Pudlak syndrome 7
- OMIM:614077 Hermansky-Pudlak syndrome 8
- ORPHA:2139 Hernández-Aguirre Negrete syndrome
- ORPHA:1930 Herpes simplex virus encephalitis
- OMIM:619607 Heterotaxy, visceral, 10, autosomal, with male infertility
- OMIM:619608 Heterotaxy, visceral, 11, autosomal, with male infertility
- OMIM:605376 Heterotaxy, visceral, 2, autosomal
- OMIM:618724 Heyn-Sproul-Jackson syndrome
- OMIM:619311 Hiatt-Neu-Cooper neurodevelopmental syndrome
- ORPHA:189 Hidrotic ectodermal dysplasia
- ORPHA:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type
- ORPHA:1809 Hidrotic ectodermal dysplasia, Halal type
- OMIM:235760 Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures
- OMIM:613870 Hirschsprung disease, cardiac defects, and autonomic dysfunction
- OMIM:142625 Hirsutism, skeletal dysplasia, and mental retardation
- OMIM:235830 Histidinuria due to A renal tubular defect
- ORPHA:2158 Histidinuria-renal tubular defect syndrome
- ORPHA:137675 Histiocytoid cardiomyopathy
- OMIM:602782 Histiocytosis-lymphadenopathy plus syndrome
- ORPHA:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:79242 Holocarboxylase synthetase deficiency
- ORPHA:2162 Holoprosencephaly
- OMIM:236100 Holoprosencephaly 1
- OMIM:614226 Holoprosencephaly 11
- OMIM:618500 Holoprosencephaly 12 with or without pancreatic agenesis
- OMIM:301043 Holoprosencephaly 13, X-linked
- OMIM:619895 Holoprosencephaly 14
- OMIM:157170 Holoprosencephaly 2
- OMIM:142945 Holoprosencephaly 3
- OMIM:142946 Holoprosencephaly 4
- OMIM:609637 Holoprosencephaly 5
- OMIM:610828 Holoprosencephaly 7
- OMIM:610829 Holoprosencephaly 9
- OMIM:306990 Holoprosencephaly with fetal akinesia/hypokinesia sequence
- OMIM:610680 Holoprosencephaly, recurrent infections, and monocytosis
- OMIM:601370 Holoprosencephaly, semilobar, with craniosynostosis
- ORPHA:2165 Holoprosencephaly-caudal dysgenesis syndrome
- ORPHA:2163 Holoprosencephaly-craniosynostosis syndrome
- ORPHA:2166 Holoprosencephaly-postaxial polydactyly syndrome
- ORPHA:3186 Holoprosencephaly-radial heart renal anomalies syndrome
- ORPHA:2167 Holzgreve syndrome
- OMIM:236110 Holzgreve syndrome
- OMIM:236200 Homocystinuria due to cystathionine beta-synthase deficiency
- OMIM:236250 Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity
- ORPHA:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:391665 Homozygous familial hypercholesterolemia
- ORPHA:2744 Horizontal gaze palsy with progressive scoliosis
- ORPHA:3322 Hoyeraal-Hreidarsson syndrome
- ORPHA:391417 HSD10 disease
- ORPHA:391428 HSD10 disease, infantile type
- ORPHA:3265 Humero-radial synostosis
- OMIM:618022 Humerofemoral hypoplasia with radiotibial ray deficiency
- OMIM:236410 Humeroradial synostosis with craniofacial anomalies
- OMIM:236400 Humeroradial synostosishumeroradial/multiple synostosis syndrome
- OMIM:611962 Hunter-Macdonald syndrome
- OMIM:601379 Hunter-Mcalpine craniosynostosis syndrome
- OMIM:607014 Hurler syndrome
- ORPHA:93473 Hurler syndrome
- OMIM:607015 Hurler-Scheie syndrome
- ORPHA:93476 Hurler-Scheie syndrome
- OMIM:176670 Hutchinson-Gilford progeria syndrome
- ORPHA:740 Hutchinson-Gilford progeria syndrome
- OMIM:228600 Hyaline fibromatosis syndrome
- ORPHA:2177 Hydranencephaly
- OMIM:307000 Hydrocephalus due to congenital stenosis of aqueduct of sylvius
- OMIM:236640 Hydrocephalus with associated malformations
- ORPHA:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius
- OMIM:615219 Hydrocephalus, congenital, 2, with or without brain or eye anomalies
- OMIM:617967 Hydrocephalus, congenital, 3, with brain anomalies
- OMIM:600991 Hydrocephalus, skeletal anomalies, and mental disturbance
- ORPHA:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- ORPHA:2183 Hydrocephalus-obesity-hypogonadism syndrome
- ORPHA:2184 Hydrocephaly-low insertion umbilicus syndrome
- ORPHA:2181 Hydrocephaly-tall stature-joint laxity syndrome
- ORPHA:2189 Hydrolethalus
- OMIM:236680 Hydrolethalus syndrome 1
- OMIM:614120 Hydrolethalus syndrome 2
- ORPHA:1041 Hydrops fetalis
- OMIM:613124 Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
- ORPHA:79155 Hydroxykynureninuria
- OMIM:260920 Hyper-Igd syndrome
- OMIM:147060 Hyper-IgE recurrent infection syndrome
- OMIM:618282 Hyper-IgE recurrent infection syndrome 3, autosomal recessive
- OMIM:618523 Hyper-IgE recurrent infection syndrome 4, autosomal recessive
- OMIM:619752 Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
- OMIM:618944 Hyper-IgE recurrent infection syndrome 5, autosomal recessive
- OMIM:243700 Hyper-Ige recurrent infection syndrome, autosomal recessive
- ORPHA:927 Hyperammonemia due to N-acetylglutamate synthase deficiency
- OMIM:143880 Hypercalcemia, infantile, 1
- OMIM:143890 Hypercholesterolemia, familial, 1
- OMIM:144010 Hypercholesterolemia, familial, 2
- OMIM:603776 Hypercholesterolemia, familial, 3
- OMIM:618011 Hyperekplexia 4
- ORPHA:163985 Hyperekplexia-epilepsy syndrome
- OMIM:614462 Hyperglycinemia, lactic acidosis, and seizures
- ORPHA:343 Hyperimmunoglobulinemia D with periodic fever
- OMIM:144250 Hyperlipidemia, familial combined, 3
- ORPHA:2203 Hyperlysinemia
- OMIM:617013 Hypermanganesemia with dystonia 2
- OMIM:614300 Hypermethioninemia due to adenosine kinase deficiency
- OMIM:613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
- ORPHA:285 Hypermobile Ehlers-Danlos syndrome
- OMIM:239100 Hyperostosis corticalis generalisata
- ORPHA:3416 Hyperostosis corticalis generalisata
- OMIM:144755 Hyperostosis cranialis interna
- OMIM:144800 Hyperostosis frontalis interna
- OMIM:144750 Hyperostosis, endosteal
- OMIM:145001 Hyperparathyroidism 2
- ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome
- OMIM:261640 Hyperphenylalaninemia, BH4-deficient, A
- OMIM:233910 Hyperphenylalaninemia, BH4-deficient, B
- OMIM:261630 Hyperphenylalaninemia, bh4-deficient, C
- OMIM:615716 Hyperphosphatasia with impaired intellectual development syndrome 4
- OMIM:239300 Hyperphosphatasia with mental retardation
- OMIM:614749 Hyperphosphatasia with mental retardation syndrome 2
- OMIM:614207 Hyperphosphatasia with mental retardation syndrome 3
- OMIM:616809 Hyperphosphatasia with mental retardation syndrome 6
- ORPHA:247262 Hyperphosphatasia-intellectual disability syndrome
- OMIM:145100 Hyperpigmentation of eyelids
- OMIM:145290 HYPERREFLEXIA
- OMIM:614684 Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes
- OMIM:239800 Hypertelorism, microtia, facial clefting syndrome
- OMIM:614187 Hypertelorism, preauricular sinus, punctal pits, and deafness
- ORPHA:2211 Hypertelorism-hypospadias-polysyndactyly syndrome
- ORPHA:2213 Hypertelorism-microtia-facial clefting syndrome
- ORPHA:2220 Hypertrichosis cubiti
- ORPHA:2222 Hypertrichosis lanuginosa congenita
- OMIM:135400 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
- OMIM:145700 Hypertrichosis universalis
- OMIM:239850 Hypertrichotic osteochondrodysplasia
- OMIM:145900 Hypertrophic neuropathy of dejerine-sottas
- OMIM:167100 Hypertrophic osteoarthropathy, primary, autosomal dominant
- OMIM:259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1
- OMIM:240000 Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase
- ORPHA:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
- ORPHA:289157 Hypocalcemic vitamin D-dependent rickets
- ORPHA:93160 Hypocalcemic vitamin D-resistant rickets
- ORPHA:429 Hypochondroplasia
- OMIM:146000 Hypochondroplasia
- ORPHA:36412 Hypocomplementemic urticarial vasculitis
- ORPHA:2228 Hypodontia-dysplasia of nails syndrome
- OMIM:612776 Hypoglossia with situs inversus
- OMIM:103300 HYPOGLOSSIA-HYPODACTYLIA
- ORPHA:989 Hypoglossia-hypodactyly syndrome
- OMIM:241000 Hypogonadism with low-grade mental deficiency and microcephaly
- ORPHA:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- OMIM:308700 Hypogonadotropic hypogonadism 1 with or without anosmia
- OMIM:614839 Hypogonadotropic hypogonadism 10 with or without anosmia
- OMIM:614841 Hypogonadotropic hypogonadism 12 with or without anosmia
- OMIM:614842 Hypogonadotropic hypogonadism 13 with or without anosmia
- OMIM:614858 Hypogonadotropic hypogonadism 14 with or without anosmia
- OMIM:614880 Hypogonadotropic hypogonadism 15 with or without anosmia
- OMIM:614897 Hypogonadotropic hypogonadism 16 with or without anosmia
- OMIM:615266 Hypogonadotropic hypogonadism 17 with or without anosmia
- OMIM:615267 Hypogonadotropic hypogonadism 18 with or without anosmia
- OMIM:615269 Hypogonadotropic hypogonadism 19 with or without anosmia
- OMIM:147950 Hypogonadotropic hypogonadism 2 with or without anosmia
- OMIM:615270 Hypogonadotropic hypogonadism 20 with or without anosmia
- OMIM:615271 Hypogonadotropic hypogonadism 21 with or without anosmia
- OMIM:616030 Hypogonadotropic hypogonadism 22 with or without anosmia
- OMIM:228300 Hypogonadotropic hypogonadism 23 without anosmia
- OMIM:229070 Hypogonadotropic hypogonadism 24 without anosmia
- OMIM:618841 Hypogonadotropic hypogonadism 25 with anosmia
- OMIM:619718 Hypogonadotropic hypogonadism 26 with or without anosmia
- OMIM:619755 Hypogonadotropic hypogonadism 27 without anosmia
- OMIM:244200 Hypogonadotropic hypogonadism 3 with or without anosmia
- OMIM:610628 Hypogonadotropic hypogonadism 4 with or without anosmia
- OMIM:612370 Hypogonadotropic hypogonadism 5 with or without anosmia
- OMIM:612702 Hypogonadotropic hypogonadism 6 with or without anosmia
- OMIM:146110 Hypogonadotropic hypogonadism 7 without anosmia
- OMIM:614837 Hypogonadotropic hypogonadism 8 with or without anosmia
- OMIM:614838 Hypogonadotropic hypogonadism 9 with or without anosmia
- ORPHA:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- ORPHA:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
- ORPHA:238468 Hypohidrotic ectodermal dysplasia
- ORPHA:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- OMIM:248190 Hypomagnesemia 5, renal, with or without ocular involvement
- OMIM:616418 Hypomagnesemia, seizures, and mental retardation
- OMIM:241310 Hypomandibular faciocranial dysostosis
- ORPHA:1790 Hypomandibular faciocranial dysostosis
- OMIM:300337 Hypomelanosis of ito
- OMIM:615281 Hypomyelination with brainstem and spinal cord involvement and legspasticity
- ORPHA:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- OMIM:307700 Hypoparathyroidism, X-linked
- OMIM:241410 Hypoparathyroidism-retardation-dysmorphism syndrome
- ORPHA:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- ORPHA:436 Hypophosphatasia
- OMIM:146300 Hypophosphatasia, adult
- OMIM:241510 Hypophosphatasia, childhood
- OMIM:241500 Hypophosphatasia, infantile
- ORPHA:437 Hypophosphatemic rickets
- OMIM:612089 Hypophosphatemic rickets and hyperparathyroidism
- OMIM:241530 Hypophosphatemic rickets with hypercalciuria, hereditary
- OMIM:193100 Hypophosphatemic rickets, autosomal dominant
- OMIM:241520 Hypophosphatemic rickets, autosomal recessive
- OMIM:613312 Hypophosphatemic rickets, autosomal recessive, 2
- OMIM:307800 Hypophosphatemic rickets, X-linked dominant
- OMIM:618541 Hypopigmentation, organomegaly, and delayed myelination and development
- ORPHA:722 Hypoplasminogenemia
- ORPHA:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- OMIM:603463 Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
- ORPHA:2261 Hypospadias-intellectual disability, Goldblatt type syndrome
- OMIM:241800 Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included
- ORPHA:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- ORPHA:90673 Hypothyroidism due to TSH receptor mutations
- OMIM:241850 Hypothyroidism, athyroidal, with spiky hair and cleft palate
- OMIM:218700 Hypothyroidism, congenital, nongoitrous, 2
- OMIM:275100 Hypothyroidism, congenital, nongoitrous, 4
- OMIM:614450 Hypothyroidism, congenital, nongoitrous, 6
- OMIM:301033 Hypothyroidism, congenital, nongoitrous, 8
- OMIM:617330 Hypotonia, ataxia, and delayed development syndrome
- OMIM:617915 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
- OMIM:618493 Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
- OMIM:616816 Hypotonia, infantile, with psychomotor retardation
- OMIM:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
- OMIM:616801 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
- OMIM:616900 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- OMIM:606407 Hypotonia-cystinuria syndrome
- ORPHA:163690 Hypotonia-cystinuria syndrome
- ORPHA:371364 Hypotonia-speech impairment-severe cognitive delay syndrome
- OMIM:605389 Hypotrichosis 1
- OMIM:614238 Hypotrichosis 10
- OMIM:615059 Hypotrichosis 11
- OMIM:615885 Hypotrichosis 12
- OMIM:615896 Hypotrichosis 13
- OMIM:618275 Hypotrichosis 14
- OMIM:146520 Hypotrichosis 2
- OMIM:613981 Hypotrichosis 3
- OMIM:612841 Hypotrichosis 5
- OMIM:607903 Hypotrichosis 6
- OMIM:604379 Hypotrichosis 7
- OMIM:278150 Hypotrichosis 8
- OMIM:614237 Hypotrichosis 9
- OMIM:613102 Hypotrichosis and recurrent skin vesicles
- ORPHA:55654 Hypotrichosis simplex
- ORPHA:90368 Hypotrichosis simplex of the scalp
- ORPHA:1573 Hypotrichosis with juvenile macular degeneration
- OMIM:601553 Hypotrichosis, congenital, with juvenile macular dystrophy
- ORPHA:2266 Hypotrichosis-intellectual disability, Lopes type
- OMIM:607823 Hypotrichosis-Lymphedema-Telangiectasia syndrome
- ORPHA:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
- OMIM:137940 Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome
Code pathologie
Nom de la pathologie
- ORPHA:254509 Iatrogenic botulism
- ORPHA:2268 ICF syndrome
- OMIM:242150 Ichthyosiform erythroderma, corneal involvement, and deafness
- OMIM:308200 Ichthyosis and male hypogonadism
- ORPHA:2273 Ichthyosis follicularis-alopecia-photophobia syndrome
- OMIM:608649 Ichthyosis prematurity syndrome
- OMIM:242510 Ichthyosis with alopecia, eclabion, ectropion, and mental retardation
- OMIM:242300 Ichthyosis, congenital, autosomal recessive 1
- OMIM:602400 Ichthyosis, congenital, autosomal recessive 11
- OMIM:242100 Ichthyosis, congenital, autosomal recessive 2
- OMIM:606545 Ichthyosis, congenital, autosomal recessive 3
- OMIM:601277 Ichthyosis, congenital, autosomal recessive 4A
- OMIM:242500 Ichthyosis, congenital, autosomal recessive 4B
- OMIM:612281 Ichthyosis, congenital, autosomal recessive 6
- OMIM:615023 Ichthyosis, congenital, autosomal recessive 9
- OMIM:619016 Ichthyosis, follicular, with atrichia and photophobia syndrome 2
- OMIM:602540 Ichthyosis, hystrix-like, with deafness
- OMIM:607626 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
- OMIM:614457 Ichthyosis, spastic quadriplegia, and mental retardation
- ORPHA:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- OMIM:146720 Ichthyosis-Cheek-Eyebrow syndrome
- ORPHA:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- OMIM:618527 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- ORPHA:88 Idiopathic aplastic anemia
- ORPHA:60033 Idiopathic bronchiectasis
- ORPHA:1320 Idiopathic camptocormia
- ORPHA:95717 Idiopathic congenital hypothyroidism
- ORPHA:238624 Idiopathic intracranial hypertension
- ORPHA:567544 Idiopathic non-lupus full-house nephropathy
- ORPHA:280921 Idiopathic panuveitis
- ORPHA:275766 Idiopathic pulmonary arterial hypertension
- ORPHA:567548 Idiopathic steroid-resistant nephrotic syndrome
- ORPHA:567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- OMIM:308205 IFAP syndrome with or without BRESHECK syndrome
- ORPHA:555905 IgA pemphigus
- OMIM:147050 Ige responsiveness, atopic
- ORPHA:79078 IgG4-related dacryoadenitis and sialadenitis
- ORPHA:449395 IgG4-related kidney disease
- ORPHA:449563 IgG4-related ophthalmic disease
- ORPHA:449427 IgG4-related pachymeningitis
- ORPHA:449432 IgG4-related submandibular gland disease
- ORPHA:64744 IgG4-related thyroid disease
- OMIM:618786 Imagawa-Matsumoto syndrome
- ORPHA:85173 IMAGe syndrome
- ORPHA:35858 Imerslund-Gräsbeck syndrome
- ORPHA:3002 Immune thrombocytopenia
- OMIM:612783 Immunodeficiency 10
- OMIM:301082 Immunodeficiency 102
- OMIM:260570 Immunodeficiency 108 with autoinflammation
- OMIM:615518 Immunodeficiency 13
- OMIM:619281 Immunodeficiency 14B, autosomal recessive
- OMIM:618204 Immunodeficiency 15A
- OMIM:615707 Immunodeficiency 20
- OMIM:615816 Immunodeficiency 23
- OMIM:615966 Immunodeficiency 26 with or without neurologic abnormalities
- OMIM:226990 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive
- OMIM:300636 Immunodeficiency 33
- OMIM:616005 Immunodeficiency 36
- OMIM:606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity
- OMIM:616740 Immunodeficiency 46
- OMIM:300972 Immunodeficiency 47
- OMIM:617237 Immunodeficiency 49
- OMIM:613953 Immunodeficiency 51
- OMIM:609981 Immunodeficiency 54
- OMIM:617827 Immunodeficiency 55
- OMIM:615207 Immunodeficiency 56
- OMIM:618131 Immunodeficiency 58
- OMIM:233600 Immunodeficiency 59 and hypoglycemia
- OMIM:300310 Immunodeficiency 61
- OMIM:618459 Immunodeficiency 62
- OMIM:618648 Immunodeficiency 65, susceptibility to viral infections
- OMIM:618969 Immunodeficiency 70
- OMIM:617718 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
- OMIM:618986 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
- OMIM:619164 Immunodeficiency 76
- OMIM:619220 Immunodeficiency 78 with autoimmunity and developmental delay
- OMIM:619238 Immunodeficiency 79
- OMIM:619381 Immunodeficiency 82 with systemic inflammation
- OMIM:619573 Immunodeficiency 87 and autoimmunity
- OMIM:612782 Immunodeficiency 9
- OMIM:619750 Immunodeficiency 94 with autoinflammation and dysmorphic facies
- OMIM:619773 Immunodeficiency 95
- OMIM:619774 Immunodeficiency 96
- OMIM:619802 Immunodeficiency 97 with autoinflammation
- OMIM:301078 Immunodeficiency 98 with autoinflammation, X-linked
- ORPHA:572 Immunodeficiency by defective expression of MHC class II
- OMIM:610798 Immunodeficiency due to defect in mapbp-interacting protein
- OMIM:613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency
- ORPHA:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency
- OMIM:608106 Immunodeficiency with hyper IgM, type 5
- OMIM:605258 Immunodeficiency with hyper-igm, type 2
- OMIM:608184 Immunodeficiency with hyper-IgM, type 4
- OMIM:607594 Immunodeficiency, common variable, 1
- OMIM:615577 Immunodeficiency, common variable, 10
- OMIM:615767 Immunodeficiency, common variable, 11
- OMIM:616576 Immunodeficiency, common variable, 12
- OMIM:617765 Immunodeficiency, common variable, 14
- OMIM:240500 Immunodeficiency, common variable, 2
- OMIM:613493 Immunodeficiency, common variable, 3
- OMIM:613494 Immunodeficiency, common variable, 4
- OMIM:614700 Immunodeficiency, common variable, 8, with autoimmunity
- OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM
- OMIM:300853 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- OMIM:242860 Immunodeficiency-Centromeric instability-facial anomalies syndrome
- OMIM:616910 Immunodeficiency-Centromeric instability-facial anomalies syndrome 3
- OMIM:616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4
- OMIM:614069 Immunodeficiency-Centromeric instability-facial anomalies syndrome2
- OMIM:242900 Immunoosseous dysplasia, Schimke type
- OMIM:617425 Immunoskeletal dysplasia with neurodevelopmental abnormalities
- OMIM:308280 Impacted teeth, multiple
- ORPHA:2759 Imperforate oropharynx-costovertebral anomalies syndrome
- OMIM:147251 Incisors, fused mandibular
- OMIM:147330 Incisors, lower central, absence of
- OMIM:147350 Incisors, rotation of upper central
- OMIM:147400 Incisors, shovel-shaped
- OMIM:619733 Inclusion body myopathy and brain white matter abnormalities
- OMIM:167320 Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1
- ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- OMIM:308300 Incontinentia pigmenti
- ORPHA:464 Incontinentia pigmenti
- OMIM:243000 Indifference to pain, congenital, autosomal recessive
- ORPHA:178478 Infant botulism
- OMIM:618339 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
- OMIM:614559 Infantile cerebellar-retinal degeneration
- ORPHA:238455 Infantile dystonia-parkinsonism
- ORPHA:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:206436 Infantile Krabbe disease
- OMIM:615438 Infantile liver failure syndrome 1
- ORPHA:456312 Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2591 Infantile myofibromatosis
- ORPHA:35069 Infantile neuroaxonal dystrophy
- ORPHA:85179 Infantile osteopetrosis with neuroaxonal dysplasia
- ORPHA:772 Infantile Refsum disease
- OMIM:269920 Infantile sialic acid storage disease
- ORPHA:3173 Infantile spasms-broad thumbs syndrome
- ORPHA:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- ORPHA:2176 Infantile systemic hyalinosis
- ORPHA:293168 Infantile-onset ascending hereditary spastic paralysis
- ORPHA:494526 Infantile-onset generalized dyskinesia with orofacial involvement
- OMIM:619418 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
- ORPHA:1145 Infantile-onset X-linked spinal muscular atrophy
- OMIM:266600 Inflammatory bowel disease 1, Crohn disease
- OMIM:612567 Inflammatory bowel disease 25, early onset, autosomal recessive
- OMIM:613148 Inflammatory bowel disease 28, early onset, autosomal recessive
- OMIM:614328 Inflammatory skin and bowel disease, neonatal, 1
- OMIM:616069 Inflammatory skin and bowel disease, neonatal, 2
- ORPHA:254504 Inhalational botulism
- ORPHA:282166 Inherited Creutzfeldt-Jakob disease
- ORPHA:63259 Iniencephaly
- OMIM:256800 Insensitivity to pain, congenital, with anhidrosis
- OMIM:608747 Insulin-Like growth factor I deficiency
- OMIM:270450 Insulin-Like growth factor I, resistance to
- ORPHA:2298 Insulin-resistance syndrome type B
- OMIM:618522 Intellectual developmental disorder 59
- OMIM:618587 Intellectual developmental disorder 60 with seizures
- OMIM:618009 Intellectual developmental disorder 61
- OMIM:619326 Intellectual developmental disorder and hypogonadotropic hypogonadism
- OMIM:618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
- OMIM:620021 Intellectual developmental disorder with autism and dysmorphic facies
- OMIM:615032 Intellectual developmental disorder with autism and macrocephaly
- OMIM:618906 Intellectual developmental disorder with autistic features and language delay, with or without seizures
- OMIM:618725 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
- OMIM:618316 Intellectual developmental disorder with cardiac defects and dysmorphic facies
- OMIM:618089 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
- OMIM:617333 Intellectual developmental disorder with dysmorphic facies and ptosis
- OMIM:617452 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
- OMIM:618092 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities
- OMIM:619031 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- OMIM:617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
- OMIM:618147 Intellectual developmental disorder with hypertelorism and distinctive facies
- OMIM:618748 Intellectual developmental disorder with hypotonia and behavioral abnormalities
- OMIM:619556 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- OMIM:618653 Intellectual developmental disorder with impaired language and dysmorphic facies
- OMIM:618158 Intellectual developmental disorder with macrocephaly, seizures, and speech delay
- OMIM:620007 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
- OMIM:618608 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
- OMIM:617532 Intellectual developmental disorder with neuropsychiatric features
- OMIM:620086 Intellectual developmental disorder with ocular anomalies and distinctive facial features
- OMIM:619844 Intellectual developmental disorder with or without peripheral neuropathy
- OMIM:619150 Intellectual developmental disorder with paroxysmal dyskinesia or seizures
- OMIM:617101 Intellectual developmental disorder with persistence of fetal hemoglobin
- OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia
- OMIM:619000 Intellectual developmental disorder with seizures and language delay
- OMIM:618470 Intellectual developmental disorder with severe speech and ambulation defects
- OMIM:618687 Intellectual developmental disorder with short stature and behavioral abnormalities
- OMIM:606220 Intellectual developmental disorder with short stature, facial anomalies, and speech defects
- OMIM:618672 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
- OMIM:614563 Intellectual developmental disorder, autosomal dominant 13
- OMIM:615502 Intellectual developmental disorder, autosomal dominant 21
- OMIM:612337 Intellectual developmental disorder, autosomal dominant 22
- OMIM:615761 Intellectual developmental disorder, autosomal dominant 23
- OMIM:615834 Intellectual developmental disorder, autosomal dominant 26
- OMIM:616083 Intellectual developmental disorder, autosomal dominant 30
- OMIM:616311 Intellectual developmental disorder, autosomal dominant 33
- OMIM:616393 Intellectual developmental disorder, autosomal dominant 38
- OMIM:616579 Intellectual developmental disorder, autosomal dominant 40
- OMIM:616977 Intellectual developmental disorder, autosomal dominant 43
- OMIM:617751 Intellectual developmental disorder, autosomal dominant 48
- OMIM:612621 Intellectual developmental disorder, autosomal dominant 5
- OMIM:617788 Intellectual developmental disorder, autosomal dominant 51
- OMIM:617796 Intellectual developmental disorder, autosomal dominant 52
- OMIM:617798 Intellectual developmental disorder, autosomal dominant 53
- OMIM:617799 Intellectual developmental disorder, autosomal dominant 54
- OMIM:617854 Intellectual developmental disorder, autosomal dominant 56
- OMIM:618106 Intellectual developmental disorder, autosomal dominant 58
- OMIM:613970 Intellectual developmental disorder, autosomal dominant 6, with or without seizures
- OMIM:618825 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
- OMIM:619188 Intellectual developmental disorder, autosomal dominant 64
- OMIM:619320 Intellectual developmental disorder, autosomal dominant 65
- OMIM:619910 Intellectual developmental disorder, autosomal dominant 66
- OMIM:619927 Intellectual developmental disorder, autosomal dominant 67
- OMIM:619934 Intellectual developmental disorder, autosomal dominant 68
- OMIM:613192 Intellectual developmental disorder, autosomal recessive 13
- OMIM:614020 Intellectual developmental disorder, autosomal recessive 14
- OMIM:614345 Intellectual developmental disorder, autosomal recessive 24
- OMIM:608443 Intellectual developmental disorder, autosomal recessive 3
- OMIM:615493 Intellectual developmental disorder, autosomal recessive 37
- OMIM:611107 Intellectual developmental disorder, autosomal recessive 4
- OMIM:615637 Intellectual developmental disorder, autosomal recessive 41
- OMIM:615817 Intellectual developmental disorder, autosomal recessive 43
- OMIM:615942 Intellectual developmental disorder, autosomal recessive 44
- OMIM:615979 Intellectual developmental disorder, autosomal recessive 45
- OMIM:616116 Intellectual developmental disorder, autosomal recessive 46
- OMIM:611091 Intellectual developmental disorder, autosomal recessive 5
- OMIM:617432 Intellectual developmental disorder, autosomal recessive 60
- OMIM:617773 Intellectual developmental disorder, autosomal recessive 61
- OMIM:618103 Intellectual developmental disorder, autosomal recessive 64
- OMIM:618109 Intellectual developmental disorder, autosomal recessive 65
- OMIM:618295 Intellectual developmental disorder, autosomal recessive 67
- OMIM:618302 Intellectual developmental disorder, autosomal recessive 68
- OMIM:618383 Intellectual developmental disorder, autosomal recessive 69
- OMIM:611093 Intellectual developmental disorder, autosomal recessive 7
- OMIM:618402 Intellectual developmental disorder, autosomal recessive 70
- OMIM:618504 Intellectual developmental disorder, autosomal recessive 71
- OMIM:618665 Intellectual developmental disorder, autosomal recessive 72
- OMIM:619717 Intellectual developmental disorder, autosomal recessive 73
- OMIM:617169 Intellectual developmental disorder, autosomal recessive 74
- OMIM:619827 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
- OMIM:301024 Intellectual developmental disorder, X-linked 108
- OMIM:300534 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type
- OMIM:300958 Intellectual developmental disorder, X-linked, syndrome, snijders Blok type
- OMIM:301039 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type
- OMIM:301066 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
- OMIM:619719 Intellectual disability and myopathy syndrome
- ORPHA:464311 Intellectual disability syndrome due to a DYRK1A point mutation
- ORPHA:166108 Intellectual disability, Birk-Barel type
- ORPHA:3079 Intellectual disability, Buenos-Aires type
- ORPHA:3080 Intellectual disability, Wolff type
- ORPHA:289483 Intellectual disability-alacrima-achalasia syndrome
- ORPHA:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- ORPHA:3041 Intellectual disability-balding-patella luxation-acromicria syndrome
- ORPHA:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome
- ORPHA:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- ORPHA:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- ORPHA:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
- ORPHA:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- ORPHA:468620 Intellectual disability-epilepsy-extrapyramidal syndrome
- ORPHA:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome
- ORPHA:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
- ORPHA:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome
- ORPHA:1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- ORPHA:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- OMIM:309580 Intellectual disability-hypotonic facies syndrome, X-linked
- ORPHA:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
- ORPHA:457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- ORPHA:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome
- ORPHA:352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- ORPHA:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- ORPHA:3082 Intellectual disability-polydactyly-uncombable hair syndrome
- ORPHA:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- ORPHA:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome
- ORPHA:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome
- ORPHA:3074 Intellectual disability-short stature-hypertelorism syndrome
- ORPHA:363528 Intellectual disability-strabismus syndrome
- OMIM:612852 Interleukin 1 receptor antagonist deficiency
- ORPHA:79402 Intermediate generalized junctional epidermolysis bullosa
- ORPHA:171433 Intermediate nemaline myopathy
- ORPHA:210110 Intermediate osteopetrosis
- OMIM:243100 Internal carotid arteries, hypoplasia of
- OMIM:614748 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
- OMIM:263000 Interstitial pneumonitis, desquamative, familial
- ORPHA:178481 Intestinal botulism
- OMIM:620045 Intestinal dysmotility syndrome
- OMIM:300048 Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
- OMIM:600546 Intrauterine growth retardation with increased mitomycin C sensitivity
- OMIM:618336 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
- OMIM:614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies
- ORPHA:3306 Inverted duplicated chromosome 15 syndrome
- OMIM:137600 Iridogoniodysgenesis, type 2
- OMIM:147891 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
- ORPHA:229717 Isolated agammaglobulinemia
- ORPHA:563609 Isolated anencephaly
- ORPHA:1134 Isolated arrhinia
- ORPHA:30391 Isolated biliary atresia
- ORPHA:1398 Isolated cerebellar agenesis
- ORPHA:209908 Isolated childhood apraxia of speech
- ORPHA:199302 Isolated cleft lip
- ORPHA:2609 Isolated complex I deficiency
- ORPHA:91416 Isolated congenital alacrima
- ORPHA:141152 Isolated congenital hypoglossia/aglossia
- ORPHA:79144 Isolated congenital onychodysplasia
- ORPHA:217 Isolated Dandy-Walker malformation
- ORPHA:1885 Isolated ectopia lentis
- ORPHA:563612 Isolated exencephaly
- ORPHA:52901 Isolated follicle stimulating hormone deficiency
- OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia
- OMIM:618160 Isolated growth hormone deficiency, type V
- ORPHA:2128 Isolated hemihyperplasia
- ORPHA:2345 Isolated Klippel-Feil syndrome
- ORPHA:166119 Isolated osteopoikilosis
- ORPHA:99885 Isolated permanent neonatal diabetes mellitus
- ORPHA:718 Isolated Pierre Robin syndrome
- ORPHA:440713 Isolated sedoheptulokinase deficiency
- ORPHA:3208 Isolated succinate-CoQ reductase deficiency
- ORPHA:90674 Isolated thyroid-stimulating hormone deficiency
- OMIM:243440 Isotretinoin embryopathy-like syndrome
- ORPHA:2305 Isotretinoin syndrome
- ORPHA:2306 Isotretinoin-like syndrome
- OMIM:243450 Isovaleric acid, inability to smell
- ORPHA:352479 ISPD-related limb-girdle muscular dystrophy R20
- OMIM:147750 Ivic syndrome
Code pathologie
Nom de la pathologie
- OMIM:617988 Jaberi-Elahi syndrome
- ORPHA:1540 Jackson-Weiss syndrome
- OMIM:123150 Jackson-Weiss syndrome
- ORPHA:2308 Jacobsen syndrome
- OMIM:147791 Jacobsen syndrome
- ORPHA:1873 Jalili syndrome
- OMIM:217080 Jalili syndrome
- ORPHA:79139 Japanese encephalitis
- OMIM:251255 Jawad syndrome
- OMIM:243800 Johanson-Blizzard syndrome
- ORPHA:2315 Johanson-Blizzard syndrome
- OMIM:147770 Johnson neuroectodermal syndrome
- ORPHA:2316 Johnson neuroectodermal syndrome
- ORPHA:475 Joubert syndrome
- OMIM:213300 Joubert syndrome 1
- OMIM:300804 Joubert syndrome 10
- OMIM:614424 Joubert syndrome 14
- OMIM:614465 Joubert syndrome 16
- OMIM:614815 Joubert syndrome 18
- OMIM:608091 Joubert syndrome 2
- OMIM:615636 Joubert syndrome 21
- OMIM:615665 Joubert syndrome 22
- OMIM:616784 Joubert syndrome 26
- OMIM:617121 Joubert syndrome 28
- OMIM:608629 Joubert syndrome 3
- OMIM:617622 Joubert syndrome 30
- OMIM:617757 Joubert syndrome 32
- OMIM:618161 Joubert syndrome 35
- OMIM:618763 Joubert syndrome 36
- OMIM:619185 Joubert syndrome 37
- OMIM:619476 Joubert syndrome 38
- OMIM:619562 Joubert syndrome 39
- OMIM:619582 Joubert syndrome 40
- OMIM:610188 Joubert syndrome 5
- OMIM:611560 Joubert syndrome 7
- OMIM:612291 Joubert syndrome 8
- OMIM:612285 Joubert syndrome 9
- ORPHA:1454 Joubert syndrome with hepatic defect
- ORPHA:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- ORPHA:220493 Joubert syndrome with ocular defect
- ORPHA:2318 Joubert syndrome with oculorenal defect
- ORPHA:220497 Joubert syndrome with renal defect
- ORPHA:2319 Juberg-Hayward syndrome
- ORPHA:79405 Junctional epidermolysis bullosa inversa
- ORPHA:79403 Junctional epidermolysis bullosa with pyloric atresia
- ORPHA:2321 Jung syndrome
- ORPHA:1941 Juvenile absence epilepsy
- ORPHA:300605 Juvenile amyotrophic lateral sclerosis
- ORPHA:93672 Juvenile dermatomyositis
- ORPHA:98977 Juvenile glaucoma
- ORPHA:2028 Juvenile hyaline fibromatosis
- ORPHA:307 Juvenile myoclonic epilepsy
- ORPHA:289596 Juvenile nasopharyngeal angiofibroma
- ORPHA:79264 Juvenile neuronal ceroid lipofuscinosis
- ORPHA:2801 Juvenile Paget disease
- ORPHA:79076 Juvenile polyposis of infancy
- ORPHA:2929 Juvenile polyposis syndrome
- OMIM:175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- ORPHA:93399 Juvenile sialidosis type 2
- ORPHA:26137 Juvenile temporal arteritis
- ORPHA:158000 Juvenile xanthogranuloma
Code pathologie
Nom de la pathologie
- ORPHA:2322 Kabuki syndrome
- OMIM:147920 Kabuki syndrome 1
- OMIM:300867 Kabuki syndrome 2
- ORPHA:254519 Kagami-Ogata syndrome
- OMIM:608149 Kagami-Ogata syndrome
- ORPHA:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- ORPHA:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- OMIM:612713 Kahrizi syndrome
- ORPHA:478 Kallmann syndrome
- OMIM:308750 Kallmann syndrome with spastic paraplegia
- ORPHA:2326 Kallmann syndrome-heart disease syndrome
- OMIM:609242 Kanzaki disease
- ORPHA:464329 Kaposiform lymphangiomatosis
- OMIM:244300 Kapur-Toriello syndrome
- ORPHA:2328 Kapur-Toriello syndrome
- OMIM:244450 Kaufman oculocerebrofacial syndrome
- ORPHA:2331 Kawasaki disease
- OMIM:619125 Kaya-Barakat-Masson syndrome
- OMIM:148050 KBG syndrome
- ORPHA:2332 KBG syndrome
- ORPHA:85279 KDM5C-related syndromic X-linked intellectual disability
- OMIM:530000 Kearns-Sayre syndrome
- OMIM:301026 Keipert syndrome
- ORPHA:2662 Keipert syndrome
- OMIM:244460 Kenny-caffey syndrome, type 1
- OMIM:127000 Kenny-caffey syndrome, type 2
- ORPHA:435628 Keppen-Lubinsky syndrome
- OMIM:614098 Keppen-Lubinsky syndrome
- OMIM:148210 Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant
- OMIM:244600 Keratoconus posticus circumscriptus
- ORPHA:494 Keratoderma hereditarium mutilans
- OMIM:148200 Keratoendotheliitis fugax hereditaria
- OMIM:612843 Keratosis follicularis spinulosa decalvans, autosomal dominant
- OMIM:308800 Keratosis follicularis spinulosa decalvans, X-linked
- OMIM:308830 Keratosis follicularis, dwarfism, and cerebral atrophy
- ORPHA:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome
- OMIM:612908 Keratosis palmoplantaris striata II
- OMIM:604093 Keratosis pilaris atrophicans
- OMIM:148730 Keratosis, focal palmoplantar and gingival
- ORPHA:85202 Keutel syndrome
- OMIM:245150 Keutel syndrome
- OMIM:618460 Khan-Khan-Katsanis syndrome
- ORPHA:477 KID syndrome
- ORPHA:50918 Kikuchi-Fujimoto disease
- OMIM:619080 Kilquist syndrome
- ORPHA:482 Kimura disease
- ORPHA:2908 Kindler epidermolysis bullosa
- OMIM:173650 Kindler syndrome
- OMIM:619542 King-Denborough syndrome
- OMIM:619297 KINSSHIP syndrome
- OMIM:148800 Kleeblattschaedel syndrome
- OMIM:610253 Kleefstra syndrome
- ORPHA:261494 Kleefstra syndrome
- OMIM:617768 Kleefstra syndrome 2
- ORPHA:96147 Kleefstra syndrome due to 9q34 microdeletion
- ORPHA:261652 Kleefstra syndrome due to a point mutation
- OMIM:118100 Klippel-Feil syndrome 1, autosomal dominant
- OMIM:616549 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
- OMIM:214300 Klippel-Feil syndrome, autosomal recessive
- ORPHA:90308 Klippel-Trénaunay syndrome
- OMIM:156550 Kniest dysplasia
- ORPHA:485 Kniest dysplasia
- OMIM:245160 Kniest-Like dysplasia with pursed lips and ectopia lentis
- OMIM:245190 Kniest-Like dysplasia, lethal
- ORPHA:1571 Knobloch syndrome
- OMIM:618458 Knobloch syndrome 2
- OMIM:267750 Knobloch syndrome, type 1
- OMIM:226750 Kohlschutter-Tonz syndrome
- OMIM:619229 Kohlschutter-Tonz syndrome-like
- OMIM:610443 Koolen-De Vries syndrome
- ORPHA:96169 Koolen-De Vries syndrome
- ORPHA:363965 Koolen-De Vries syndrome due to a point mutation
- OMIM:616592 Kosaki overgrowth syndrome
- OMIM:606693 Kufor-Rakeb syndrome
- ORPHA:306674 Kufor-Rakeb syndrome
- OMIM:619762 Kury-Isidor syndrome
- OMIM:211350 Kyphomelic dysplasia
- ORPHA:1801 Kyphomelic dysplasia
- ORPHA:496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- ORPHA:536545 Kyphoscoliotic Ehlers-Danlos syndrome
- ORPHA:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Code pathologie
Nom de la pathologie
- ORPHA:79314 L-2-hydroxyglutaric aciduria
- OMIM:149700 Lacrimal duct defect
- OMIM:149730 Lacrimoauriculodentodigital syndrome
- ORPHA:2363 Lacrimoauriculodentodigital syndrome
- OMIM:245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID
- ORPHA:59135 Laing early-onset distal myopathy
- ORPHA:530983 Lamb-Shaffer syndrome
- OMIM:616803 Lamb-Shaffer syndrome
- OMIM:245550 Lambert syndrome
- ORPHA:1296 Lambert syndrome
- ORPHA:43393 Lambert-Eaton myasthenic syndrome
- OMIM:245552 Lambotte syndrome
- ORPHA:313 Lamellar ichthyosis
- ORPHA:258 Laminin subunit alpha 2-related congenital muscular dystrophy
- OMIM:617182 Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
- OMIM:262500 Laron syndrome
- ORPHA:633 Laron syndrome
- OMIM:150250 Larsen syndrome
- ORPHA:503 Larsen syndrome
- ORPHA:2370 Larsen-like osseous dysplasia-short stature syndrome
- OMIM:608545 Larsen-Like syndrome
- OMIM:150260 Laryngeal abductor paralysis
- ORPHA:2375 Laryngeal abductor paralysis-intellectual disability syndrome
- OMIM:150360 Laryngeal web, familial
- OMIM:245660 Laryngoonychocutaneous syndrome
- ORPHA:137935 Laryngotracheal angioma
- ORPHA:99824 Lassa fever
- ORPHA:79406 Late-onset junctional epidermolysis bullosa
- OMIM:130720 Lateral meningocele syndrome
- ORPHA:2789 Lateral meningocele syndrome
- OMIM:607330 Lathosterolosis
- ORPHA:46059 Lathosterolosis
- ORPHA:2377 Laurence-Moon syndrome
- ORPHA:2378 Laurin-Sandrow syndrome
- OMIM:135750 Laurin-Sandrow syndrome
- ORPHA:330015 Lead poisoning
- ORPHA:65 Leber congenital amaurosis
- OMIM:611755 Leber congenital amaurosis 10
- OMIM:619382 Leber hereditary optic neuropathy, autosomal recessive
- OMIM:535000 Leber optic atrophy
- ORPHA:2380 Legg-Calvé-Perthes disease
- ORPHA:549 Legionnaires disease
- ORPHA:137605 Legius syndrome
- OMIM:611431 Legius syndrome
- ORPHA:506 Leigh syndrome
- OMIM:220111 Leigh syndrome, french Canadian type
- ORPHA:507 Leishmaniasis
- ORPHA:140936 Lelis syndrome
- OMIM:151050 Lenz-Majewski hyperostotic dwarfism
- ORPHA:2658 Lenz-Majewski hyperostotic dwarfism
- OMIM:151100 Leopard syndrome 1
- OMIM:611554 Leopard syndrome 2
- OMIM:613707 Leopard syndrome 3
- ORPHA:508 Leprechaunism
- ORPHA:548 Leprosy
- OMIM:614962 Leptin deficiency or dysfunction
- OMIM:614963 Leptin receptor deficiency
- ORPHA:509 Leptospirosis
- ORPHA:2900 Leri pleonosteosis
- OMIM:619149 Lessel-Kreienkamp syndrome
- OMIM:618681 Lessel-Kubisch syndrome
- ORPHA:158687 Lethal acantholytic erosive disorder
- ORPHA:1187 Lethal ataxia with deafness and optic atrophy
- OMIM:253310 Lethal congenital contracture syndrome 1
- OMIM:617022 Lethal congenital contracture syndrome 10
- OMIM:617194 Lethal congenital contracture syndrome 11
- OMIM:607598 Lethal congenital contracture syndrome 2
- OMIM:616248 Lethal congenital contracture syndrome 6
- OMIM:616286 Lethal congenital contracture syndrome 7
- OMIM:616287 Lethal congenital contracture syndrome 8
- OMIM:616503 Lethal congenital contracture syndrome 9
- ORPHA:1486 Lethal congenital contracture syndrome type 1
- ORPHA:1972 Lethal faciocardiomelic dysplasia
- ORPHA:1046 Lethal hemolytic anemia-genital anomalies syndrome
- ORPHA:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:2347 Lethal Kniest-like dysplasia
- ORPHA:2736 Lethal omphalocele-cleft palate syndrome
- ORPHA:1832 Lethal osteosclerotic bone dysplasia
- ORPHA:1423 Lethal recessive chondrodysplasia
- OMIM:601356 Lethal short-limb skeletal dysplasia, al Gazali type
- OMIM:246400 Letterer-Siwe disease
- ORPHA:2968 Leukocyte adhesion deficiency
- ORPHA:99843 Leukocyte adhesion deficiency type II
- OMIM:116920 Leukocyte adhesion deficiency, type I
- OMIM:612840 Leukocyte adhesion deficiency, type III
- OMIM:616763 Leukodystrophy and acquired microcephaly with or without dystonia
- OMIM:616420 Leukodystrophy, hypomyelinating, 10
- OMIM:616494 Leukodystrophy, hypomyelinating, 11
- OMIM:616683 Leukodystrophy, hypomyelinating, 12
- OMIM:617899 Leukodystrophy, hypomyelinating, 14
- OMIM:617951 Leukodystrophy, hypomyelinating, 15
- OMIM:618006 Leukodystrophy, hypomyelinating, 17
- OMIM:618404 Leukodystrophy, hypomyelinating, 18
- OMIM:608804 Leukodystrophy, hypomyelinating, 2
- OMIM:619071 Leukodystrophy, hypomyelinating, 20
- OMIM:619310 Leukodystrophy, hypomyelinating, 21
- OMIM:619328 Leukodystrophy, hypomyelinating, 22
- OMIM:619851 Leukodystrophy, hypomyelinating, 24
- OMIM:260600 Leukodystrophy, hypomyelinating, 3
- OMIM:612233 Leukodystrophy, hypomyelinating, 4
- OMIM:612438 Leukodystrophy, hypomyelinating, 6
- OMIM:607694 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism
- OMIM:614381 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
- OMIM:616140 Leukodystrophy, hypomyelinating, 9
- OMIM:617762 Leukodystrophy, progressive, early childhood-onset
- ORPHA:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts
- ORPHA:542310 Leukoencephalopathy with calcifications and cysts
- OMIM:613724 Leukoencephalopathy with dystonia and motor neuropathy
- OMIM:300660 Leukoencephalopathy with metaphyseal chondrodysplasia
- OMIM:603896 Leukoencephalopathy with vanishing white matter
- OMIM:612951 Leukoencephalopathy, cystic, without megalencephaly
- OMIM:618877 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
- OMIM:619147 Leukoencephalopathy, progressive, infantile-onset, with or without deafness
- ORPHA:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- OMIM:246500 Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis
- ORPHA:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- ORPHA:2387 Leukonychia totalis
- OMIM:614037 Leukotriene C4 synthase deficiency
- OMIM:151610 Levator-Medial rectus synkinesis
- ORPHA:65285 Lhermitte-Duclos disease
- OMIM:619189 Li-Campeau syndrome
- OMIM:618974 Li-Ghorgani-Weisz-Hubshman syndrome
- OMIM:618729 Liang-Wang syndrome
- OMIM:618889 Liberfarb syndrome
- ORPHA:525 Lichen planopilaris
- ORPHA:254478 Lichen planus pemphigoides
- ORPHA:99812 LIG4 syndrome
- OMIM:606593 Lig4 syndrome
- ORPHA:2369 Limb body wall complex
- OMIM:603543 Limb-Mammary syndrome
- ORPHA:69085 Limb-mammary syndrome
- ORPHA:171673 Limbal stem cell deficiency
- ORPHA:46488 Linear IgA dermatosis
- ORPHA:2612 Linear nevus sebaceus syndrome
- OMIM:309801 Linear skin defects with multiple congenital anomalies 1
- OMIM:300887 Linear skin defects with multiple congenital anomalies 2
- OMIM:300952 Linear skin defects with multiple congenital anomalies 3
- ORPHA:2611 Linear verrucous nevus syndrome
- OMIM:247150 Lip prints
- OMIM:151640 Lip, hamartomatous
- OMIM:151630 Lip, median nodule of upper
- ORPHA:435660 LIPE-related familial partial lipodystrophy
- ORPHA:1979 Lipodystrophy due to peptidic growth factors deficiency
- OMIM:608594 Lipodystrophy, congenital generalized, type 1
- OMIM:269700 Lipodystrophy, congenital generalized, type 2
- OMIM:608600 Lipodystrophy, familial partial, type 1
- OMIM:151660 Lipodystrophy, familial partial, type 2
- OMIM:606721 Lipodystrophy, familial partial, type 7
- OMIM:608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones
- OMIM:608709 Lipodystrophy, partial, acquired, susceptibility to
- OMIM:613913 Lipodystrophy, partial, acquired, with low complement component C3, with or without glomerulonephritis
- ORPHA:530 Lipoid proteinosis
- OMIM:151700 Lipoma of the conjunctiva
- OMIM:607432 Lissencephaly 1
- OMIM:618873 Lissencephaly 10
- OMIM:257320 Lissencephaly 2
- OMIM:611603 Lissencephaly 3
- OMIM:614019 Lissencephaly 4
- OMIM:615191 Lissencephaly 5
- OMIM:616212 Lissencephaly 6, with microcephaly
- OMIM:616342 Lissencephaly 7 with cerebellar hypoplasia
- OMIM:617255 Lissencephaly 8
- OMIM:618325 Lissencephaly 9 with complex brainstem malformation
- ORPHA:95232 Lissencephaly due to LIS1 mutation
- ORPHA:171680 Lissencephaly due to TUBA1A mutation
- ORPHA:89844 Lissencephaly syndrome, Norman-Roberts type
- ORPHA:2148 Lissencephaly type 1 due to doublecortin gene mutation
- ORPHA:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome
- OMIM:300215 Lissencephaly, X-linked, 2
- ORPHA:533 Listeriosis
- OMIM:619991 Liver disease, severe congenital
- ORPHA:363618 LMNA-related cardiocutaneous progeria syndrome
- ORPHA:93924 Lobar holoprosencephaly
- ORPHA:79410 Localized dystrophic epidermolysis bullosa, pretibial form
- ORPHA:79400 Localized epidermolysis bullosa simplex
- ORPHA:251393 Localized junctional epidermolysis bullosa
- ORPHA:90289 Localized scleroderma
- ORPHA:2406 Locked-in syndrome
- ORPHA:60030 Loeys-Dietz syndrome
- OMIM:609192 Loeys-Dietz syndrome 1
- OMIM:610168 Loeys-Dietz syndrome 2
- OMIM:613795 Loeys-Dietz syndrome 3
- OMIM:614816 Loeys-Dietz syndrome 4
- OMIM:615582 Loeys-Dietz syndrome 5
- OMIM:619656 Loeys-Dietz syndrome 6
- OMIM:309000 Lowe syndrome
- ORPHA:2408 Lowe-Kohn-Cohen syndrome
- ORPHA:2487 Lower limb malformation-hypospadias syndrome
- ORPHA:276435 Lower motor neuron syndrome with late-adult onset
- ORPHA:2409 Lowry-MacLean syndrome
- OMIM:600252 Lowry-Maclean syndrome
- OMIM:226960 Lowry-Wood syndrome
- ORPHA:1824 Lowry-Wood syndrome
- ORPHA:776 Lujan-Fryns syndrome
- OMIM:309520 Lujan-Fryns syndrome
- ORPHA:319213 Lujo hemorrhagic fever
- OMIM:617241 Lung disease, immunodeficiency, and chromosome breakage syndrome
- OMIM:619460 Luo-Schoch-Yamamoto syndrome
- OMIM:616831 Luscan-Lumish syndrome
- OMIM:265300 Lymphangiectasia, pulmonary, congenital
- ORPHA:538 Lymphangioleiomyomatosis
- OMIM:620014 Lymphatic malformation 12
- OMIM:617300 Lymphatic malformation 7
- OMIM:601927 Lymphedema, cardiac septal defects, and characteristic facies
- OMIM:153200 Lymphedema, hereditary, II
- OMIM:616843 Lymphedema, hereditary, III
- OMIM:614038 Lymphedema, primary, with myelodysplasia
- ORPHA:33001 Lymphedema-distichiasis syndrome
- OMIM:153400 Lymphedema-Distichiasis syndrome
- OMIM:247410 Lymphedema-Hypoparathyroidism syndrome
- ORPHA:79128 Lymphoid interstitial pneumonia
- OMIM:613011 Lymphoproliferative syndrome 1
- OMIM:615122 Lymphoproliferative syndrome 2
- OMIM:308240 Lymphoproliferative syndrome, X-linked, 1
- ORPHA:275761 Lysosomal acid lipase deficiency
Code pathologie
Nom de la pathologie
- OMIM:247990 Macdermot-Winter syndrome
- OMIM:606369 Macrocephaly and epileptic encephalopathy
- OMIM:618286 Macrocephaly, acquired, with impaired intellectual development
- OMIM:613075 Macrocephaly, alopecia, cutis laxa, and scoliosis
- OMIM:153470 Macrocephaly, benign familial
- OMIM:617011 Macrocephaly, dysmorphic facies, and psychomotor retardation
- OMIM:619769 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
- ORPHA:397612 Macrocephaly-developmental delay syndrome
- ORPHA:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- ORPHA:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
- ORPHA:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome
- OMIM:605309 Macrocephaly/autism syndrome
- OMIM:248000 Macrocephaly/megalencephaly syndrome, autosomal recessive
- OMIM:153630 MACROGLOSSIA
- OMIM:248110 Macrosomia with microphthalmia, lethal
- ORPHA:2432 Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- OMIM:155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- ORPHA:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
- ORPHA:137867 Madras motor neuron disease
- ORPHA:398069 MAGEL2-related Prader-Willi-like syndrome
- ORPHA:210272 Mal de débarquement
- ORPHA:556 Malakoplakia
- ORPHA:420179 Malan overgrowth syndrome
- OMIM:614753 Malan syndrome
- ORPHA:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- OMIM:602248 Malignant atrophic papulosis
- ORPHA:423 Malignant hyperthermia of anesthesia
- OMIM:154300 Malocclusion due to protuberant upper front teeth
- OMIM:212112 Malouf syndrome
- ORPHA:52417 MALT lymphoma
- ORPHA:397941 MAN1B1-CDG
- OMIM:615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
- OMIM:248370 Mandibuloacral dysplasia
- ORPHA:2457 Mandibuloacral dysplasia
- OMIM:619127 Mandibuloacral dysplasia progeroid syndrome
- ORPHA:90153 Mandibuloacral dysplasia with type A lipodystrophy
- OMIM:608612 Mandibuloacral dysplasia with type B lipodystrophy
- ORPHA:90154 Mandibuloacral dysplasia with type B lipodystrophy
- OMIM:616367 Mandibulofacial dysostosis with alopecia
- OMIM:602562 Mandibulofacial dysostosis with macroblepharon and macrostomia
- OMIM:608257 Mandibulofacial dysostosis with ptosis, autosomal dominant
- OMIM:610536 Mandibulofacial dysostosis, Guion-Almeida type
- ORPHA:79113 Mandibulofacial dysostosis-microcephaly syndrome
- OMIM:248450 Manitoba oculotrichoanal syndrome
- OMIM:248510 Mannosidosis, beta
- OMIM:619322 Marbach-Rustad progeroid syndrome
- OMIM:619680 Marbach-Schaaf neurodevelopmental syndrome
- ORPHA:99826 Marburg hemorrhagic fever
- ORPHA:221074 Marchiafava-Bignami disease
- ORPHA:91412 Marcus-Gunn syndrome
- ORPHA:2461 Marden-Walker syndrome
- OMIM:248700 Marden-Walker syndrome
- OMIM:616914 Marfan lipodystrophy syndrome
- OMIM:154700 Marfan syndrome
- ORPHA:558 Marfan syndrome
- OMIM:248760 Marfanoid habitus with microcephaly and glomerulonephritis
- OMIM:609008 Marfanoid habitus with situs inversus
- ORPHA:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome
- OMIM:154750 Marfanoid hypermobility syndrome
- ORPHA:444 Marie Unna hereditary hypotrichosis
- OMIM:146550 Marie unna hereditary hypotrichosis 1
- OMIM:248800 Marinesco-Sjogren syndrome
- ORPHA:559 Marinesco-Sjögren syndrome
- ORPHA:560 Marshall syndrome
- OMIM:154780 Marshall syndrome
- OMIM:602535 Marshall-Smith syndrome
- ORPHA:561 Marshall-Smith syndrome
- OMIM:212720 Martsolf syndrome 1
- OMIM:619420 Martsolf syndrome 2
- OMIM:303350 MASA syndrome
- ORPHA:2216 Maternal hyperthermia-induced birth defects
- ORPHA:2209 Maternal phenylketonuria
- ORPHA:251009 Maternal uniparental disomy of chromosome 1
- ORPHA:96181 Maternal uniparental disomy of chromosome 6
- ORPHA:96183 Maternal uniparental disomy of chromosome 9
- ORPHA:261519 Maternal uniparental disomy of chromosome X
- OMIM:155000 Maxillofacial dysostosis
- ORPHA:1248 Maxillonasal dysplasia
- OMIM:155050 Maxillonasal dysplasia, Binder type
- ORPHA:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2
- ORPHA:562 McCune-Albright syndrome
- OMIM:174800 McCune-Albright syndrome, somatic, mosaic
- ORPHA:2471 McDonough syndrome
- ORPHA:2473 McKusick-Kaufman syndrome
- ORPHA:564 Meckel syndrome
- OMIM:249000 Meckel syndrome 1
- OMIM:615397 Meckel syndrome 11
- OMIM:616258 Meckel syndrome 12
- OMIM:617562 Meckel syndrome 13
- OMIM:619879 Meckel syndrome 14
- OMIM:607361 Meckel syndrome 3
- OMIM:614175 Meckel syndrome, type 10
- OMIM:603194 Meckel syndrome, type 2
- OMIM:611134 Meckel syndrome, type 4
- OMIM:611561 Meckel syndrome, type 5
- OMIM:612284 Meckel syndrome, type 6
- OMIM:267010 Meckel syndrome, type 7
- OMIM:613885 Meckel syndrome, type 8
- OMIM:614209 Meckel syndrome, type 9
- ORPHA:42 Medium chain acyl-CoA dehydrogenase deficiency
- ORPHA:616 Medulloblastoma
- OMIM:300989 Meester-Loeys syndrome
- OMIM:249230 Megaepiphyseal dwarfism
- OMIM:604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
- OMIM:613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A
- OMIM:613926 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
- ORPHA:2477 Megalencephaly
- OMIM:155350 MEGALENCEPHALY
- ORPHA:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome
- OMIM:602501 Megalencephaly-Capillary malformation-polymicrogyria syndrome
- OMIM:603387 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
- OMIM:615937 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
- OMIM:615938 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
- ORPHA:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- ORPHA:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- OMIM:613839 Megaloblastic anemia due to dihydrofolate reductase deficiency
- ORPHA:2479 Megalocornea-intellectual disability syndrome
- OMIM:249310 Megalocornea-Mental retardation syndrome
- ORPHA:85282 MEHMO syndrome
- OMIM:300148 Mehmo syndrome
- OMIM:224690 Meier-Gorlin syndrome 1
- OMIM:613800 Meier-Gorlin syndrome 2
- OMIM:613803 Meier-Gorlin syndrome 3
- OMIM:613804 Meier-Gorlin syndrome 4
- OMIM:613805 Meier-Gorlin syndrome 5
- OMIM:616835 Meier-Gorlin syndrome 6
- OMIM:617063 Meier-Gorlin syndrome 7
- ORPHA:90186 Meige disease
- OMIM:137550 Melanocytic nevus syndrome, congenital
- ORPHA:31202 Melioidosis
- ORPHA:2483 Melkersson-Rosenthal syndrome
- OMIM:155900 Melkersson-Rosenthal syndrome
- ORPHA:2484 Melnick-Needles syndrome
- OMIM:309350 Melnick-Needles syndrome
- OMIM:155980 Membranous cranial ossification, delayed
- OMIM:300960 Mend syndrome
- ORPHA:401973 MEND syndrome
- ORPHA:2495 Meningioma
- ORPHA:33475 Meningococcal meningitis
- OMIM:618332 Menke-Hennekam syndrome 1
- OMIM:618333 Menke-Hennekam syndrome 2
- ORPHA:565 Menkes disease
- OMIM:309400 Menkes disease
- OMIM:616789 Mental retardation and distinctive facial features with or without cardiac defects
- OMIM:300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- OMIM:249599 Mental retardation syndrome, Belgian type
- OMIM:249600 Mental retardation syndrome, Mietens-Weber type
- OMIM:300261 Mental retardation syndrome, X-linked, Armfield type
- OMIM:613670 Mental retardation with language impairment and with or without autistic features
- OMIM:309555 Mental retardation with optic atrophy, deafness, and seizures
- OMIM:609037 Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature
- OMIM:309560 Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
- OMIM:613671 Mental retardation, anterior maxillary protrusion, and strabismus
- OMIM:156200 Mental retardation, autosomal dominant 1
- OMIM:615074 Mental retardation, autosomal dominant 18
- OMIM:614113 Mental retardation, autosomal dominant 2
- OMIM:616078 Mental retardation, autosomal dominant 29
- OMIM:616158 Mental retardation, autosomal dominant 31
- OMIM:616351 Mental retardation, autosomal dominant 34
- OMIM:616355 Mental retardation, autosomal dominant 35
- OMIM:616362 Mental retardation, autosomal dominant 36
- OMIM:616521 Mental retardation, autosomal dominant 39
- OMIM:612581 Mental retardation, autosomal dominant 4
- OMIM:616944 Mental retardation, autosomal dominant 41
- OMIM:616973 Mental retardation, autosomal dominant 42
- OMIM:617061 Mental retardation, autosomal dominant 44
- OMIM:617635 Mental retardation, autosomal dominant 47
- OMIM:617752 Mental retardation, autosomal dominant 49
- OMIM:618050 Mental retardation, autosomal dominant 57
- OMIM:614104 Mental retardation, autosomal dominant 7
- OMIM:614255 Mental retardation, autosomal dominant 9
- OMIM:614208 Mental retardation, autosomal recessive 16
- OMIM:614249 Mental retardation, autosomal recessive 18
- OMIM:614340 Mental retardation, autosomal recessive 27
- OMIM:614347 Mental retardation, autosomal recessive 28
- OMIM:614342 Mental retardation, autosomal recessive 30
- OMIM:614341 Mental retardation, autosomal recessive 33
- OMIM:614499 Mental retardation, autosomal recessive 34, with variant lissencephaly
- OMIM:615162 Mental retardation, autosomal recessive 35
- OMIM:615516 Mental retardation, autosomal recessive 38
- OMIM:615541 Mental retardation, autosomal recessive 39
- OMIM:616269 Mental retardation, autosomal recessive 48
- OMIM:616460 Mental retardation, autosomal recessive 50
- OMIM:616739 Mental retardation, autosomal recessive 51
- OMIM:617188 Mental retardation, autosomal recessive 57
- OMIM:618221 Mental retardation, autosomal recessive 66
- OMIM:249630 Mental retardation, buenos Aires type
- OMIM:609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
- OMIM:601352 Mental retardation, microcephaly, epilepsy, and coarse face
- OMIM:606242 Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism
- OMIM:606772 Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies
- OMIM:309620 Mental retardation, skeletal dysplasia, and abducens palsy
- OMIM:309530 Mental retardation, X-linked 1
- OMIM:300923 Mental retardation, X-linked 100
- OMIM:300928 Mental retardation, X-linked 101
- OMIM:300982 Mental retardation, X-linked 103
- OMIM:300983 Mental retardation, X-linked 104
- OMIM:300997 Mental retardation, X-linked 106
- OMIM:301013 Mental retardation, X-linked 107
- OMIM:300957 Mental retardation, X-linked 12/35
- OMIM:300062 Mental retardation, X-linked 14
- OMIM:300844 Mental retardation, X-linked 19
- OMIM:300428 Mental retardation, X-linked 2
- OMIM:300143 Mental retardation, X-linked 21
- OMIM:300558 Mental retardation, X-linked 30
- OMIM:300498 Mental retardation, X-linked 45
- OMIM:300210 Mental retardation, X-linked 58
- OMIM:300387 Mental retardation, X-linked 63
- OMIM:300271 Mental retardation, X-linked 72
- OMIM:300355 Mental retardation, X-linked 73
- OMIM:300505 Mental retardation, X-linked 84
- OMIM:309549 Mental retardation, X-linked 9
- OMIM:300850 Mental retardation, X-linked 90
- OMIM:300577 Mental retardation, X-linked 91
- OMIM:300851 Mental retardation, X-linked 92
- OMIM:300659 Mental retardation, X-linked 93
- OMIM:300699 Mental retardation, X-linked 94
- OMIM:300803 Mental retardation, X-linked 97
- OMIM:300912 Mental retardation, X-linked 98
- OMIM:300919 Mental retardation, X-linked 99
- OMIM:300968 Mental retardation, X-linked 99, syndromic, female-restricted
- OMIM:300243 Mental retardation, x-linked syndromic, Christianson type
- OMIM:300260 Mental retardation, x-linked syndromic, Lubs type
- OMIM:309590 Mental retardation, x-linked syndromic, Turner type
- OMIM:300238 Mental retardation, X-linked, syndromic 11
- OMIM:309545 Mental retardation, X-linked, syndromic 12
- OMIM:300055 Mental retardation, X-linked, syndromic 13
- OMIM:300676 Mental retardation, X-linked, syndromic 14
- OMIM:300886 Mental retardation, X-linked, syndromic 32
- OMIM:300966 Mental retardation, X-linked, syndromic 33
- OMIM:300967 Mental retardation, X-linked, syndromic 34
- OMIM:300998 Mental retardation, X-linked, syndromic, 35
- OMIM:300986 Mental retardation, X-linked, syndromic, Bain type
- OMIM:300354 Mental retardation, X-linked, syndromic, Cabezas type
- OMIM:300861 Mental retardation, X-linked, syndromic, Chudley-Schwartz type
- OMIM:300423 Mental retardation, X-linked, syndromic, Hedera type
- OMIM:300519 Mental retardation, X-linked, syndromic, Martin-Probst type
- OMIM:300860 Mental retardation, X-linked, syndromic, Nascimento type
- OMIM:309583 Mental retardation, X-linked, syndromic, Snyder-Robinson type
- OMIM:300706 Mental retardation, x-linked, syndromic, Turner type
- OMIM:300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- OMIM:300419 Mental retardation, X-linked, with or without seizures, arx-related
- OMIM:249650 Mercaptolactate-Cysteine disulfiduria
- OMIM:249660 Mesangial sclerosis, diffuse renal, with ocular abnormalities
- OMIM:249670 Mesoaxial hexadactyly and cardiac malformation
- OMIM:600383 Mesomelia-Synostoses syndrome
- ORPHA:2496 Mesomelia-synostoses syndrome
- OMIM:156230 Mesomelic dwarfism of hypoplastic tibia and Radius type
- ORPHA:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- ORPHA:2633 Mesomelic dysplasia, Nievergelt type
- OMIM:605274 Mesomelic dysplasia, Savarirayan type
- OMIM:249710 Mesomelic limb shortening and bowing
- OMIM:618416 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
- OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- OMIM:250215 Metaphyseal acroscyphodysplasia
- ORPHA:1240 Metaphyseal acroscyphodysplasia
- OMIM:156400 Metaphyseal chondrodysplasia, Jansen type
- OMIM:250230 Metaphyseal chondrodysplasia, Kaitila type
- ORPHA:2501 Metaphyseal chondrodysplasia, Spahr type
- OMIM:250400 Metaphyseal chondrodysplasia, Spahr type
- ORPHA:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- OMIM:156510 Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
- OMIM:250460 Metaphyseal dysplasia without hypotrichosis
- ORPHA:85188 Metaphyseal dysplasia, Braun-Tinschert type
- ORPHA:2635 Metatropic dysplasia
- OMIM:156530 Metatropic dysplasia
- OMIM:250800 Methemoglobinemia due to deficiency of methemoglobin reductase
- ORPHA:1923 Methimazole embryofetopathy
- OMIM:250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
- ORPHA:2169 Methylcobalamin deficiency type cblE
- OMIM:614105 Methylmalonate semialdehyde dehydrogenase deficiency
- OMIM:309541 Methylmalonic acidemia and homocysteinemia, Cblx type
- ORPHA:26 Methylmalonic acidemia with homocystinuria
- ORPHA:79284 Methylmalonic acidemia with homocystinuria type cblF
- ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC
- OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type
- OMIM:277380 Methylmalonic aciduria and homocystinuria, Cblf type
- OMIM:614857 Methylmalonic aciduria and homocystinuria, Cblj type
- ORPHA:29 Mevalonic aciduria
- OMIM:610377 Mevalonic aciduria
- ORPHA:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:79329 MGAT2-CDG
- ORPHA:2510 Micro syndrome
- ORPHA:2511 Microbrachycephaly-ptosis-cleft lip syndrome
- ORPHA:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency
- ORPHA:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- ORPHA:2637 Microcephalic osteodysplastic primordial dwarfism type II
- ORPHA:2636 Microcephalic osteodysplastic primordial dwarfism types I and III
- OMIM:210710 Microcephalic osteodysplastic primordial dwarfism, type I
- OMIM:210720 Microcephalic osteodysplastic primordial dwarfism, type II
- OMIM:210730 Microcephalic osteodysplastic primordial dwarfism, type III
- ORPHA:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency
- ORPHA:319675 Microcephalic primordial dwarfism, Dauber type
- ORPHA:2617 Microcephalic primordial dwarfism, Montreal type
- OMIM:210700 Microcephalic primordial dwarfism, Montreal type
- OMIM:251190 Microcephalic primordial dwarfism, Toriello type
- ORPHA:2643 Microcephalic primordial dwarfism, Toriello type
- ORPHA:436182 Microcephalic primordial dwarfism-insulin resistance syndrome
- OMIM:615095 Microcephaly 10, primary, autosomal recessive
- OMIM:615414 Microcephaly 11, primary, autosomal recessive
- OMIM:616080 Microcephaly 12, primary, autosomal recessive
- OMIM:616051 Microcephaly 13, primary, autosomal recessive
- OMIM:616402 Microcephaly 14, primary, autosomal recessive
- OMIM:616681 Microcephaly 16, primary, autosomal recessive
- OMIM:617090 Microcephaly 17, primary, autosomal recessive
- OMIM:617520 Microcephaly 18, primary, autosomal dominant
- OMIM:617800 Microcephaly 19, primary, autosomal recessive
- OMIM:604317 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
- OMIM:617914 Microcephaly 20, primary, autosomal recessive
- OMIM:617983 Microcephaly 21, primary, autosomal recessive
- OMIM:617984 Microcephaly 22, primary, autosomal recessive
- OMIM:617985 Microcephaly 23, primary, autosomal recessive
- OMIM:618179 Microcephaly 24, primary, autosomal recessive
- OMIM:618351 Microcephaly 25, primary, autosomal recessive
- OMIM:619179 Microcephaly 26, primary, autosomal dominant
- OMIM:619180 Microcephaly 27, primary, autosomal dominant
- OMIM:619453 Microcephaly 28, primary, autosomal recessive
- OMIM:620047 Microcephaly 29, primary, autosomal recessive
- OMIM:604804 Microcephaly 3, primary, autosomal recessive
- OMIM:604321 Microcephaly 4, primary, autosomal recessive
- OMIM:608716 Microcephaly 5, primary, autosomal recessive
- OMIM:612703 Microcephaly 7, primary, autosomal recessive
- OMIM:614673 Microcephaly 8, primary, autosomal recessive
- OMIM:614852 Microcephaly 9, primary, autosomal recessive
- OMIM:251270 Microcephaly and chorioretinopathy, autosomal recessive, 1
- OMIM:616171 Microcephaly and chorioretinopathy, autosomal recessive, 2
- OMIM:616335 Microcephaly and chorioretinopathy, autosomal recessive, 3
- OMIM:251250 Microcephaly with cervical spine fusion anomalies
- OMIM:251240 Microcephaly with chemotactic defect and transient hypogammaglobulinemia
- OMIM:152950 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
- OMIM:607196 Microcephaly, Amish type
- OMIM:156580 Microcephaly, autosomal dominant
- OMIM:618284 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- OMIM:614407 Microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome
- OMIM:616834 Microcephaly, congenital cataract, and psoriasiform dermatitis
- OMIM:601355 Microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs
- OMIM:601420 Microcephaly, corpus callosum dysgenesis, and cleft lip/palate
- OMIM:618891 Microcephaly, developmental delay, and brittle hair syndrome
- OMIM:614231 Microcephaly, epilepsy, and diabetes syndrome
- OMIM:619278 Microcephaly, epilepsy, and diabetes syndrome 2
- OMIM:618142 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- OMIM:618346 Microcephaly, growth deficiency, seizures, and brain malformations
- OMIM:618097 Microcephaly, growth restriction, and increased sister chromatid exchange 2
- OMIM:612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
- OMIM:613668 Microcephaly, postnatal progressive, with seizures and brain atrophy
- OMIM:251200 Microcephaly, primary autosomal recessive, 1
- OMIM:608393 Microcephaly, primary autosomal recessive, 6
- OMIM:615760 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
- OMIM:613402 Microcephaly, seizures, and developmental delay
- OMIM:251280 Microcephaly, seizures, spasticity, and brain calcifications
- OMIM:616033 Microcephaly, short stature, and impaired glucose metabolism 1
- OMIM:616817 Microcephaly, short stature, and impaired glucose metabolism 2
- OMIM:617604 Microcephaly, short stature, and limb abnormalities
- OMIM:614833 Microcephaly, short stature, and polymicrogyria with or without seizures
- ORPHA:2513 Microcephaly-albinism-digital anomalies syndrome
- ORPHA:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome
- ORPHA:2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome
- OMIM:614261 Microcephaly-Capillary malformation syndrome
- ORPHA:2516 Microcephaly-cardiac defect-lung malsegmentation syndrome
- OMIM:251220 MICROCEPHALY-CARDIOMYOPATHY
- ORPHA:2515 Microcephaly-cardiomyopathy syndrome
- ORPHA:2522 Microcephaly-cervical spine fusion anomalies syndrome
- ORPHA:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
- ORPHA:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
- ORPHA:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
- ORPHA:2533 Microcephaly-deafness-intellectual disability syndrome
- ORPHA:521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- ORPHA:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome
- ORPHA:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- ORPHA:2526 Microcephaly-lymphedema-chorioretinopathy syndrome
- ORPHA:2528 Microcephaly-microcornea syndrome, Seemanova type
- OMIM:251230 Microcephaly-Micromelia syndrome
- ORPHA:171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
- ORPHA:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome
- OMIM:156700 Microcornea, glaucoma, and absent frontal sinuses
- OMIM:615458 Microcornea, myopic chorioretinal atrophy, and telecanthus
- ORPHA:2536 Microcornea-glaucoma-absent frontal sinuses syndrome
- ORPHA:280200 Microform holoprosencephaly
- ORPHA:2538 Microgastria-limb reduction defect syndrome
- ORPHA:476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
- OMIM:605013 MICROHYDRANENCEPHALY
- ORPHA:1083 Microlissencephaly
- ORPHA:50810 Microlissencephaly-micromelia syndrome
- OMIM:156830 Micromelic bone dysplasia with cloverleaf skull
- ORPHA:139471 Microphthalmia with brain and digit anomalies
- OMIM:607597 Microphthalmia with cyst, bilateral facial clefts, and limb anomalies
- OMIM:251700 Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies
- OMIM:206920 Microphthalmia with limb anomalies
- ORPHA:1106 Microphthalmia with limb anomalies
- ORPHA:2556 Microphthalmia with linear skin defects syndrome
- OMIM:611038 Microphthalmia, isolated 3
- OMIM:615113 Microphthalmia, isolated 8
- OMIM:251505 Microphthalmia, isolated, with coloboma 4
- OMIM:611638 Microphthalmia, isolated, with coloboma 5
- OMIM:613703 Microphthalmia, isolated, with coloboma 6
- OMIM:615145 Microphthalmia, isolated, with coloboma 9
- ORPHA:568 Microphthalmia, Lenz type
- OMIM:309800 Microphthalmia, syndromic 1
- OMIM:614402 Microphthalmia, syndromic 11
- OMIM:615524 Microphthalmia, syndromic 12
- OMIM:300915 Microphthalmia, syndromic 13
- OMIM:300166 Microphthalmia, syndromic 2
- OMIM:206900 Microphthalmia, syndromic 3
- OMIM:610125 Microphthalmia, syndromic 5
- OMIM:607932 Microphthalmia, syndromic 6
- OMIM:601349 Microphthalmia, syndromic 8
- OMIM:601186 Microphthalmia, syndromic 9
- ORPHA:85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome
- ORPHA:77299 Microphthalmia-brain atrophy syndrome
- ORPHA:2547 Microphthalmia-microtia-fetal akinesia syndrome
- OMIM:615877 Microphthalmia/coloboma and skeletal dysplasia syndrome
- ORPHA:727 Microscopic polyangiitis
- OMIM:251750 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
- ORPHA:2552 Microsporidiosis
- OMIM:251800 Microtia with meatal atresia and conductive deafness
- OMIM:612290 Microtia, hearing impairment, and cleft palate
- ORPHA:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
- ORPHA:289522 Microtriplication 11q24.1
- ORPHA:100084 Middle ear neuroendocrine tumor
- OMIM:300990 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
- OMIM:608624 Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
- ORPHA:93926 Midline interhemispheric variant of holoprosencephaly
- OMIM:601016 Midline malformations, multiple, with limb abnormalities and hypopituitarism
- ORPHA:2557 Mietens syndrome
- ORPHA:314918 Mild Canavan disease
- ORPHA:411536 Mild phosphoribosylpyrophosphate synthetase superactivity
- OMIM:247200 Miller-Dieker lissencephaly syndrome
- ORPHA:531 Miller-Dieker syndrome
- ORPHA:79452 Milroy disease
- OMIM:255320 Minicore myopathy with external ophthalmoplegia
- OMIM:619097 Mismatch repair cancer syndrome 3
- OMIM:252010 Mitochondrial complex I deficiency, nuclear type 1
- OMIM:618236 Mitochondrial complex I deficiency, nuclear type 14
- OMIM:618239 Mitochondrial complex I deficiency, nuclear type 17
- OMIM:618240 Mitochondrial complex I deficiency, nuclear type 18
- OMIM:618241 Mitochondrial complex I deficiency, nuclear type 19
- OMIM:618251 Mitochondrial complex I deficiency, nuclear type 31
- OMIM:619003 Mitochondrial complex I deficiency, nuclear type 35
- OMIM:619170 Mitochondrial complex I deficiency, nuclear type 36
- OMIM:619272 Mitochondrial complex I deficiency, nuclear type 37
- OMIM:618225 Mitochondrial complex I deficiency, nuclear type 4
- OMIM:618226 Mitochondrial complex I deficiency, nuclear type 5
- OMIM:618229 Mitochondrial complex I deficiency, nuclear type 7
- OMIM:618230 Mitochondrial complex I deficiency, nuclear type 8
- OMIM:619167 Mitochondrial complex II deficiency, nuclear type 3
- OMIM:619224 Mitochondrial complex II deficiency, nuclear type 4
- OMIM:620137 Mitochondrial complex III deficiency, nuclear type 11
- OMIM:615160 Mitochondrial complex III deficiency, nuclear type 5
- OMIM:615824 Mitochondrial complex III deficiency, nuclear type 7
- OMIM:220110 Mitochondrial complex IV deficiency, nuclear type 1
- OMIM:619053 Mitochondrial complex IV deficiency, nuclear type 10
- OMIM:619054 Mitochondrial complex IV deficiency, nuclear type 11
- OMIM:619055 Mitochondrial complex IV deficiency, nuclear type 12
- OMIM:616501 Mitochondrial complex IV deficiency, nuclear type 13
- OMIM:619058 Mitochondrial complex IV deficiency, nuclear type 14
- OMIM:619059 Mitochondrial complex IV deficiency, nuclear type 15
- OMIM:619060 Mitochondrial complex IV deficiency, nuclear type 16
- OMIM:619062 Mitochondrial complex IV deficiency, nuclear type 18
- OMIM:604377 Mitochondrial complex IV deficiency, nuclear type 2
- OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 20
- OMIM:615119 Mitochondrial complex IV deficiency, nuclear type 6
- OMIM:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- OMIM:614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
- OMIM:615084 Mitochondrial DNA depletion syndrome 11
- OMIM:615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
- OMIM:618811 Mitochondrial DNA depletion syndrome 18
- OMIM:609560 Mitochondrial DNA depletion syndrome 2 (myopathic type)
- OMIM:251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- OMIM:612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
- ORPHA:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- ORPHA:254875 Mitochondrial DNA depletion syndrome, myopathic form
- ORPHA:2598 Mitochondrial myopathy and sideroblastic anemia
- OMIM:500002 Mitochondrial myopathy with diabetes
- ORPHA:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- OMIM:251900 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
- OMIM:500009 Mitochondrial myopathy, infantile, transient
- ORPHA:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:298 Mitochondrial neurogastrointestinal encephalomyopathy
- OMIM:614741 Mitochondrial pyruvate carrier deficiency
- OMIM:157700 Mitral valve prolapse 1
- ORPHA:809 Mixed connective tissue disease
- ORPHA:3434 MMEP syndrome
- ORPHA:178145 Moderate multiminicore disease with hand involvement
- OMIM:157900 Moebius syndrome
- ORPHA:570 Moebius syndrome
- ORPHA:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
- ORPHA:79330 MOGS-CDG
- OMIM:252100 Mohr syndrome
- OMIM:157950 Molar I reinclusion
- OMIM:252150 Molybdenum cofactor deficiency, complementation group A
- OMIM:252160 Molybdenum cofactor deficiency, complementation group B
- OMIM:157980 MOMO syndrome
- ORPHA:2563 MOMO syndrome
- ORPHA:573 Monilethrix
- ORPHA:1587 Monosomy 13q14
- ORPHA:96168 Monosomy 13q34
- ORPHA:1598 Monosomy 18p
- ORPHA:1600 Monosomy 18q
- ORPHA:96123 Monosomy 22
- ORPHA:48652 Monosomy 22q13.3
- ORPHA:281 Monosomy 5p
- ORPHA:261112 Monosomy 9p
- ORPHA:77301 Monosomy 9q22.3
- ORPHA:99226 Monosomy X
- ORPHA:77296 Morgagni-Stewart-Morel syndrome
- OMIM:252300 Morquio syndrome C
- ORPHA:99228 Mosaic monosomy X
- ORPHA:1692 Mosaic trisomy 1
- ORPHA:1703 Mosaic trisomy 14
- ORPHA:1708 Mosaic trisomy 16
- ORPHA:1724 Mosaic trisomy 20
- ORPHA:96061 Mosaic trisomy 8
- ORPHA:99776 Mosaic trisomy 9
- ORPHA:1052 Mosaic variegated aneuploidy syndrome
- OMIM:257300 Mosaic variegated aneuploidy syndrome 1
- OMIM:614114 Mosaic variegated aneuploidy syndrome 2
- OMIM:617598 Mosaic variegated aneuploidy syndrome 3
- ORPHA:2152 Mowat-Wilson syndrome
- OMIM:235730 Mowat-Wilson syndrome
- ORPHA:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation
- ORPHA:261537 Mowat-Wilson syndrome due to monosomy 2q22
- ORPHA:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- OMIM:300845 Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism
- ORPHA:2574 Moynahan syndrome
- ORPHA:79323 MPDU1-CDG
- ORPHA:575 Muckle-Wells syndrome
- OMIM:191900 Muckle-Wells syndrome
- OMIM:618287 Mucocutaneous ulceration, chronic
- OMIM:158310 Mucoepithelial dysplasia, hereditary
- OMIM:252500 Mucolipidosis II alpha/beta
- OMIM:252600 Mucolipidosis III alpha/beta
- OMIM:252605 Mucolipidosis III gamma
- OMIM:252650 Mucolipidosis IV
- ORPHA:576 Mucolipidosis type II
- ORPHA:577 Mucolipidosis type III
- ORPHA:578 Mucolipidosis type IV
- OMIM:252700 Mucopolysaccharidoses, unclassified types
- OMIM:253000 Mucopolysaccharidosis IVA
- ORPHA:579 Mucopolysaccharidosis type 1
- ORPHA:581 Mucopolysaccharidosis type 3
- ORPHA:582 Mucopolysaccharidosis type 4
- ORPHA:583 Mucopolysaccharidosis type 6
- ORPHA:584 Mucopolysaccharidosis type 7
- OMIM:252900 Mucopolysaccharidosis type IIIA
- OMIM:252920 Mucopolysaccharidosis type IIIB
- OMIM:252930 Mucopolysaccharidosis type IIIC
- OMIM:253010 Mucopolysaccharidosis type IVB (Morquio)
- OMIM:601492 Mucopolysaccharidosis type IX
- OMIM:253220 Mucopolysaccharidosis VII
- OMIM:252940 Mucopolysaccharidosis, type IIID
- OMIM:253200 Mucopolysaccharidosis, type VI
- OMIM:619698 Mucopolysaccharidosis, type X
- ORPHA:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- OMIM:617303 Mucopolysaccharidosis-Plus syndrome
- ORPHA:46486 Mucous membrane pemphigoid
- OMIM:253240 Mucus inspissation of respiratory tract
- ORPHA:53271 Muenke syndrome
- OMIM:602849 Muenke syndrome
- ORPHA:587 Muir-Torre syndrome
- OMIM:158320 Muir-Torre syndrome
- OMIM:617352 Mulchandani-Bhoj-Conlin syndrome
- OMIM:253250 Mulibrey nanism
- ORPHA:2576 Mulibrey nanism
- OMIM:235255 Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
- OMIM:601076 Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies
- ORPHA:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
- OMIM:166300 Multicentric carpotarsal osteolysis syndrome
- OMIM:259600 Multicentric osteolysis, nodulosis, and arthropathy
- ORPHA:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum
- OMIM:253320 Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadism
- OMIM:236500 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
- ORPHA:26791 Multiple acyl-CoA dehydrogenase deficiency
- OMIM:231680 Multiple acyl-CoA-dehydrogenase deficiency
- ORPHA:2505 Multiple benign circumferential skin creases on limbs
- ORPHA:280633 Multiple congenital anomalies-hypotonia-seizures syndrome
- OMIM:614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1
- OMIM:300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2
- OMIM:615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3
- OMIM:301056 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
- OMIM:131100 Multiple endocrine neoplasia 1
- ORPHA:652 Multiple endocrine neoplasia type 1
- ORPHA:653 Multiple endocrine neoplasia type 2
- OMIM:162300 Multiple endocrine neoplasia, type IIB
- ORPHA:93307 Multiple epiphyseal dysplasia type 4
- ORPHA:166024 Multiple epiphyseal dysplasia, Al-Gazali type
- ORPHA:166016 Multiple epiphyseal dysplasia, Lowry type
- OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
- ORPHA:93430 Multiple metaphyseal dysplasia
- OMIM:605711 Multiple mitochondrial dysfunctions syndrome 1
- OMIM:615330 Multiple mitochondrial dysfunctions syndrome 3
- OMIM:617613 Multiple mitochondrial dysfunctions syndrome 5
- OMIM:617954 Multiple mitochondrial dysfunctions syndrome 6
- OMIM:253290 Multiple pterygium syndrome, Lethal type
- OMIM:312150 Multiple pterygium syndrome, X-linked
- ORPHA:2215 Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:585 Multiple sulfatase deficiency
- OMIM:272200 Multiple sulfatase deficiency
- ORPHA:3237 Multiple synostoses syndrome
- OMIM:186500 Multiple synostoses syndrome 1
- OMIM:610017 Multiple synostoses syndrome 2
- OMIM:612961 Multiple synostoses syndrome 3
- OMIM:604801 Muscular dystrophy, congenital, 1B
- OMIM:617066 Muscular dystrophy, congenital, Davignon-Chauveau type
- OMIM:613204 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
- OMIM:602541 Muscular dystrophy, congenital, Megaconial type
- OMIM:609456 Muscular dystrophy, congenital, merosin-positive
- OMIM:617404 Muscular dystrophy, congenital, with cataracts and intellectual disability
- OMIM:615356 Muscular dystrophy, limb-girdle, autosomal recessive 18
- OMIM:619566 Muscular dystrophy, limb-girdle, autosomal recessive 27
- OMIM:603511 Muscular dystrophy, limb-girdle, type 1E
- OMIM:253600 Muscular dystrophy, limb-girdle, type 2A
- OMIM:254110 Muscular dystrophy, limb-girdle, type 2H
- OMIM:611307 Muscular dystrophy, limb-girdle, type 2L
- OMIM:616827 Muscular dystrophy, limb-girdle, type 2W
- OMIM:310095 Muscular dystrophy, progressive pectorodorsal
- OMIM:600416 Muscular dystrophy, scapulohumeral
- OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
- OMIM:615249 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
- OMIM:615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
- OMIM:615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
- OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
- OMIM:253280 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
- OMIM:253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
- OMIM:613153 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
- OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- OMIM:616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
- OMIM:613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6
- OMIM:613155 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1
- OMIM:615351 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14
- OMIM:613156 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2
- OMIM:613151 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
- OMIM:608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
- OMIM:606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5
- OMIM:609308 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
- OMIM:616094 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12
- OMIM:615352 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
- OMIM:607155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
- OMIM:616052 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
- ORPHA:324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- ORPHA:2349 Muscular pseudohypertrophy-hypothyroidism syndrome
- ORPHA:2953 Musculocontractural Ehlers-Danlos syndrome
- OMIM:254150 Musk, inability to smell
- ORPHA:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- ORPHA:2582 Myalgia-eosinophilia syndrome associated with tryptophan
- OMIM:254200 Myasthenia gravis
- OMIM:254300 Myasthenia, limb-girdle, familial
- OMIM:616326 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
- OMIM:616228 Myasthenic syndrome, congenital, 14
- OMIM:614198 Myasthenic syndrome, congenital, 16
- OMIM:616720 Myasthenic syndrome, congenital, 19
- OMIM:601462 Myasthenic syndrome, congenital, 1A, slow-channel
- OMIM:608930 Myasthenic syndrome, congenital, 1B, fast-channel
- OMIM:617143 Myasthenic syndrome, congenital, 20, presynaptic
- OMIM:617239 Myasthenic syndrome, congenital, 21, presynaptic
- OMIM:616224 Myasthenic syndrome, congenital, 22
- OMIM:618323 Myasthenic syndrome, congenital, 25, presynaptic
- OMIM:616313 Myasthenic syndrome, congenital, 2A, slow-channel
- OMIM:616322 Myasthenic syndrome, congenital, 3B, fast-channel
- OMIM:616323 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
- OMIM:616324 Myasthenic syndrome, congenital, 4B, fast-channel
- OMIM:608931 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
- OMIM:619461 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive
- OMIM:615120 Myasthenic syndrome, congenital, 8
- OMIM:616325 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
- OMIM:610542 Myasthenic syndrome, congenital, with tubular aggregates 1
- ORPHA:2583 Mycetoma
- ORPHA:268249 Mycophenolate mofetil embryopathy
- ORPHA:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy
- ORPHA:182050 MYH9-related disease
- OMIM:139210 Myhre syndrome
- ORPHA:2588 Myhre syndrome
- ORPHA:247768 Müllerian aplasia and hyperandrogenism
- ORPHA:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- ORPHA:2491 Müllerian duct anomalies-limb anomalies syndrome
- ORPHA:1942 Myoclonic-astatic epilepsy
- OMIM:617235 Myoclonus, intractable, neonatal
- ORPHA:36899 Myoclonus-dystonia syndrome
- OMIM:619040 Myofibrillar myopathy 10
- ORPHA:536516 Myopathic Ehlers-Danlos syndrome
- ORPHA:2596 Myopathy and diabetes mellitus
- OMIM:254960 Myopathy due to malate-aspartate shuttle defect
- OMIM:615673 Myopathy with extrapyramidal signs
- OMIM:614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- OMIM:255200 Myopathy, centronuclear, 2
- OMIM:615959 Myopathy, centronuclear, 5
- OMIM:160150 Myopathy, centronuclear, autosomal dominant
- OMIM:310400 Myopathy, centronuclear, X-linked
- OMIM:618823 Myopathy, congenital proximal, with minicore lesions
- OMIM:618654 Myopathy, congenital with structured cores and Z-line abnormalities
- OMIM:255995 Myopathy, congenital, bailey-bloch
- OMIM:612540 Myopathy, congenital, compton-north
- OMIM:619967 Myopathy, congenital, nonprogressive
- OMIM:618578 Myopathy, congenital, progressive, with scoliosis
- OMIM:618975 Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- OMIM:618414 Myopathy, congenital, with fast-twitch (type II) fiber atrophy
- OMIM:255310 Myopathy, congenital, with fiber-type disproportion
- OMIM:300580 Myopathy, congenital, with fiber-type disproportion, X-linked
- OMIM:618822 Myopathy, congenital, with respiratory insufficiency and bone fractures
- OMIM:618524 Myopathy, congenital, with tremor
- OMIM:160500 Myopathy, distal, 1
- OMIM:617030 Myopathy, distal, 5
- OMIM:617158 Myopathy, distal, with rimmed vacuoles
- OMIM:619036 Myopathy, epilepsy, and progressive cerebral atrophy
- OMIM:616209 Myopathy, isolated mitochondrial, autosomal dominant
- OMIM:600462 Myopathy, lactic acidosis, and sideroblastic anemia 1
- OMIM:617675 Myopathy, mitochondrial, and ataxia
- OMIM:601419 Myopathy, myofibrillar, 1
- OMIM:619424 Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- OMIM:612954 Myopathy, myofibrillar, 6
- OMIM:617114 Myopathy, myofibrillar, 7
- OMIM:617258 Myopathy, myofibrillar, 8
- OMIM:255160 Myopathy, myosin storage, autosomal recessive
- OMIM:605637 Myopathy, proximal, and ophthalmoplegia
- OMIM:300718 Myopathy, reducing body, X-linked, childhood-onset
- OMIM:616852 Myopathy, scapulohumeroperoneal
- OMIM:300696 Myopathy, X-linked, with postural muscle atrophy
- OMIM:255600 Myosclerosis, autosomal recessive
- OMIM:160800 Myotonia congenita, autosomal dominant
- OMIM:255700 Myotonia congenita, autosomal recessive
- ORPHA:99734 Myotonia fluctuans
- ORPHA:99735 Myotonia permanens
- OMIM:300219 Myotubular myopathy with abnormal genital development
Code pathologie
Nom de la pathologie
- ORPHA:2608 N syndrome
- OMIM:614063 N-ACETYLASPARTATE DEFICIENCY
- OMIM:618828 Nabais Sa-de Vries syndrome, type 1
- OMIM:618829 Nabais Sa-de vries syndrome, type 2
- OMIM:608156 Nablus mask-like facial syndrome
- OMIM:161000 Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:69087 Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:245 Nager syndrome
- ORPHA:2614 Nail-patella syndrome
- OMIM:161200 Nail-Patella syndrome
- OMIM:302350 Nance-Horan syndrome
- ORPHA:627 Nance-Horan syndrome
- ORPHA:644 NARP syndrome
- OMIM:161470 Nasal alar collapse, bilateral
- OMIM:161480 Nasal bones, absence of
- OMIM:161500 Nasal groove, familial transverse
- ORPHA:141083 Nasolacrimal duct cyst
- ORPHA:2399 Nasopalpebral lipoma-coloboma syndrome
- OMIM:167730 Nasopalpebral lipoma-coloboma syndrome
- OMIM:607107 Nasopharyngeal carcinoma
- OMIM:617075 Nasopharyngeal carcinoma, susceptibility to, 3
- OMIM:243185 Natal teeth - intestinal pseudoobstruction - patent ductus
- ORPHA:168572 Native American myopathy
- OMIM:601214 Naxos disease
- ORPHA:34217 Naxos disease
- ORPHA:542592 Necrobiosis lipoidica
- OMIM:161700 Necrotizing encephalomyelopathy, subacute, of leigh, adult
- ORPHA:199244 Nelson syndrome
- OMIM:609284 Nemaline myopathy 1
- OMIM:616165 Nemaline myopathy 10
- OMIM:617336 Nemaline myopathy 11, autosomal recessive
- OMIM:256030 Nemaline myopathy 2, autosomal recessive
- OMIM:161800 Nemaline myopathy 3
- OMIM:609285 Nemaline myopathy 4
- OMIM:609273 Nemaline myopathy 6
- OMIM:610687 Nemaline myopathy 7
- OMIM:615348 Nemaline myopathy 8
- OMIM:615731 Nemaline myopathy 9
- ORPHA:44 Neonatal adrenoleukodystrophy
- ORPHA:446 Neonatal hemochromatosis
- ORPHA:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome
- ORPHA:294023 Neonatal inflammatory skin and bowel disease
- ORPHA:398124 Neonatal lupus erythematosus
- ORPHA:284979 Neonatal Marfan syndrome
- ORPHA:94058 Neovascular glaucoma
- ORPHA:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- OMIM:609057 Nephropathy with pretibial epidermolysis bullosa and deafness
- OMIM:256150 NEPHROSIALIDOSIS
- OMIM:256200 Nephrosis with deafness and urinary tract and digital malformations
- ORPHA:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome
- OMIM:616730 Nephrotic syndrome, type 11
- OMIM:617575 Nephrotic syndrome, type 14
- OMIM:614008 Nestor-Guillermo progeria syndrome
- ORPHA:634 Netherton syndrome
- OMIM:256500 Netherton syndrome
- ORPHA:2671 Neu-Laxova syndrome
- OMIM:256520 Neu-Laxova syndrome 1
- OMIM:616038 Neu-Laxova syndrome 2
- ORPHA:2901 Neuralgic amyotrophy
- OMIM:256550 Neuraminidase deficiency
- OMIM:619869 Neurocardiofaciodigital syndrome
- ORPHA:2481 Neurocutaneous melanocytosis
- OMIM:249400 Neurocutaneous melanosis, somatic
- ORPHA:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- OMIM:234200 Neurodegeneration with brain iron accumulation 1
- OMIM:256600 Neurodegeneration with brain iron accumulation 2A
- OMIM:606159 Neurodegeneration with brain iron accumulation 3
- OMIM:619173 Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities
- OMIM:618170 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
- OMIM:618276 Neurodegeneration, childhood-onset, with cerebellar atrophy
- OMIM:620089 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
- OMIM:619847 Neurodegeneration, childhood-onset, with progressive microcephaly
- OMIM:618451 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- OMIM:618973 Neurodegeneration, infantile-onset, biotin-responsive
- ORPHA:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- OMIM:618354 Neurodevelopmental disorder and language delay with or without structural brain abnormalities
- OMIM:618890 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
- OMIM:618707 Neurodevelopmental disorder with absent language and variable seizures
- OMIM:619075 Neurodevelopmental disorder with alopecia and brain abnormalities
- OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
- OMIM:617807 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
- OMIM:618718 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
- OMIM:615286 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
- OMIM:618731 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
- OMIM:618590 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
- OMIM:619121 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
- OMIM:618571 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
- OMIM:618356 Neurodevelopmental disorder with central and peripheral motor dysfunction
- OMIM:619797 Neurodevelopmental disorder with central hypotonia and dysmorphic facies
- OMIM:618056 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- OMIM:618572 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
- OMIM:619244 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- OMIM:618505 Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
- OMIM:620083 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- OMIM:619306 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
- OMIM:617755 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
- OMIM:618659 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
- OMIM:620073 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
- OMIM:619480 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
- OMIM:619264 Neurodevelopmental disorder with dysmorphic facies and variable seizures
- OMIM:619005 Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia
- OMIM:615802 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
- OMIM:619971 Neurodevelopmental disorder with epilepsy and brain atrophy
- OMIM:301072 Neurodevelopmental disorder with epilepsy and hemochromatosis
- OMIM:617393 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
- OMIM:618741 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- OMIM:620075 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
- OMIM:615599 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity
- OMIM:619616 Neurodevelopmental disorder with hearing loss and spasticity
- OMIM:619512 Neurodevelopmental disorder with hypotonia and brain abnormalities
- OMIM:618879 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- OMIM:619503 Neurodevelopmental disorder with hypotonia and dysmorphic facies
- OMIM:618603 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
- OMIM:619383 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
- OMIM:619854 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
- OMIM:620029 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
- OMIM:618862 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
- OMIM:618797 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- OMIM:617519 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
- OMIM:617268 Neurodevelopmental disorder with hypotonia, seizures, and absent language
- OMIM:613443 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
- OMIM:618292 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
- OMIM:619580 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
- OMIM:618425 Neurodevelopmental disorder with impaired speech and hyperkinetic movements
- OMIM:619373 Neurodevelopmental disorder with infantile epileptic spasms
- OMIM:619995 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
- OMIM:617493 Neurodevelopmental disorder with involuntary movements
- OMIM:618917 Neurodevelopmental disorder with language impairment and behavioral abnormalities
- OMIM:617051 Neurodevelopmental disorder with microcephaly and gray sclerae
- OMIM:616281 Neurodevelopmental disorder with microcephaly and spastic paraplegia
- OMIM:618492 Neurodevelopmental disorder with microcephaly and structural brain anomalies
- OMIM:618622 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
- OMIM:617709 Neurodevelopmental disorder with microcephaly, ataxia, and seizures
- OMIM:617913 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- OMIM:620066 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- OMIM:618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
- OMIM:617862 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
- OMIM:618367 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
- OMIM:620038 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language
- OMIM:617481 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
- OMIM:619876 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
- OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
- OMIM:619092 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant
- OMIM:620023 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
- OMIM:619076 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
- OMIM:617802 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
- OMIM:619685 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis
- OMIM:620027 Neurodevelopmental disorder with microcephaly, short stature, and speech delay
- OMIM:617523 Neurodevelopmental disorder with midbrain and hindbrain malformations
- OMIM:619470 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
- OMIM:617865 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
- OMIM:619833 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
- OMIM:618709 Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
- OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
- OMIM:619239 Neurodevelopmental disorder with or without autism or seizures
- OMIM:618859 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
- OMIM:619157 Neurodevelopmental disorder with or without early-onset generalized epilepsy
- OMIM:614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- OMIM:617820 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
- OMIM:617864 Neurodevelopmental disorder with or without seizures and gait abnormalities
- OMIM:618443 Neurodevelopmental disorder with or without variable brain abnormalities
- OMIM:619725 Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
- OMIM:619880 Neurodevelopmental disorder with poor growth and skeletal anomalies
- OMIM:620071 Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
- OMIM:617903 Neurodevelopmental disorder with poor language and loss of hand skills
- OMIM:616486 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities
- OMIM:617527 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
- OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
- OMIM:618088 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
- OMIM:619517 Neurodevelopmental disorder with seizures and brain abnormalities
- OMIM:619072 Neurodevelopmental disorder with seizures and brain atrophy
- OMIM:619323 Neurodevelopmental disorder with seizures and gingival overgrowth
- OMIM:618497 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
- OMIM:618480 Neurodevelopmental disorder with seizures and speech and walking impairment
- OMIM:618922 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
- OMIM:620024 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
- OMIM:617804 Neurodevelopmental disorder with severe motor impairment and absent language
- OMIM:619972 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
- OMIM:620070 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- OMIM:615075 Neurodevelopmental disorder with spastic diplegia and visual defects
- OMIM:617977 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
- OMIM:618651 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
- OMIM:618076 Neurodevelopmental disorder with spasticity and poor growth
- OMIM:619286 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
- OMIM:620001 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
- OMIM:619989 Neurodevelopmental disorder with speech delay and variable ocular anomalies
- OMIM:619056 Neurodevelopmental disorder with speech impairment and dysmorphic facies
- OMIM:620114 Neurodevelopmental disorder with speech impairment and with or without seizures
- OMIM:618577 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
- OMIM:618547 Neurodevelopmental disorder with visual defects and brain anomalies
- OMIM:619103 Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities
- OMIM:617710 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
- OMIM:301022 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities
- ORPHA:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- ORPHA:352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- ORPHA:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- OMIM:618914 Neurodevelopmental, jaw, eye, and digital syndrome
- OMIM:619522 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
- OMIM:603641 Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
- ORPHA:2673 Neurofaciodigitorenal syndrome
- OMIM:619194 Neurofacioskeletal syndrome with or without renal agenesis
- ORPHA:157846 Neuroferritinopathy
- ORPHA:252183 Neurofibroma
- OMIM:101000 Neurofibromatosis, type II
- OMIM:162260 Neurofibromatosis, type III, mixed central and peripheral
- ORPHA:1143 Neurogenic arthrogryposis multiplex congenita
- ORPHA:94093 Neuroleptic malignant syndrome
- OMIM:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
- ORPHA:137754 Neurological conditions associated with aminoacylase 1 deficiency
- OMIM:618733 Neuromuscular disease and ocular or auditory anomalies with or without seizures
- ORPHA:99811 Neuronal intestinal pseudoobstruction
- OMIM:607641 Neuronopathy, distal hereditary motor, type VIIB
- OMIM:619539 Neuroocular syndrome
- OMIM:618652 Neurooculocardiogenitourinary syndrome
- OMIM:618184 Neuropathy, congenital hypomyelinating, 2
- OMIM:618186 Neuropathy, congenital hypomyelinating, 3
- OMIM:616505 Neuropathy, hereditary motor and sensory, type VIB
- OMIM:619216 Neuropathy, hereditary motor, with myopathic features
- OMIM:162400 Neuropathy, hereditary sensory and autonomic, type IA
- OMIM:201300 Neuropathy, hereditary sensory and autonomic, type II
- OMIM:223900 Neuropathy, hereditary sensory and autonomic, type III
- OMIM:614653 Neuropathy, hereditary sensory and autonomic, type VI
- OMIM:616488 Neuropathy, hereditary sensory and autonomic, type VIII
- ORPHA:98907 Neutral lipid storage disease with ichthyosis
- OMIM:162700 Neutropenia, chronic familial
- OMIM:612541 Neutropenia, severe congenital, 4, autosomal recessive
- ORPHA:64754 Nevus comedonicus syndrome
- ORPHA:363558 New-onset refractory status epilepticus
- OMIM:601358 Nicolaides-Baraitser syndrome
- ORPHA:3051 Nicolaides-Baraitser syndrome
- OMIM:257200 Niemann-Pick disease, type A
- OMIM:163400 Nievergelt syndrome
- ORPHA:1390 Night blindness-skeletal anomalies-dysmorphism syndrome
- ORPHA:647 Nijmegen breakage syndrome
- OMIM:251260 Nijmegen breakage syndrome
- OMIM:613078 Nijmegen breakage syndrome-like disorder
- ORPHA:99825 Nipah virus disease
- OMIM:600092 Nivelon-Nivelon-Mabille syndrome
- OMIM:618872 Nizon-Isidor syndrome
- ORPHA:217253 NMDA receptor encephalitis
- ORPHA:31204 Nocardiosis
- ORPHA:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- ORPHA:90695 Non-acquired panhypopituitarism
- ORPHA:1581 Non-distal monosomy 10q
- ORPHA:1695 Non-distal trisomy 10q
- ORPHA:1702 Non-distal trisomy 13q
- ORPHA:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
- ORPHA:141179 Non-involuting congenital hemangioma
- ORPHA:314647 Non-progressive cerebellar ataxia with intellectual disability
- ORPHA:442835 Non-specific early-onset epileptic encephalopathy
- ORPHA:35099 Non-syndromic bicoronal craniosynostosis
- ORPHA:1516 Non-syndromic bilambdoid and sagittal craniosynostosis
- ORPHA:3366 Non-syndromic metopic craniosynostosis
- ORPHA:95706 Non-syndromic posterior hypospadias
- ORPHA:35093 Non-syndromic sagittal craniosynostosis
- ORPHA:648 Noonan syndrome
- OMIM:163950 Noonan syndrome 1
- OMIM:616564 Noonan syndrome 10
- OMIM:618499 Noonan syndrome 11
- OMIM:619087 Noonan syndrome 13
- OMIM:619745 Noonan syndrome 14
- OMIM:605275 Noonan syndrome 2
- OMIM:609942 Noonan syndrome 3
- OMIM:610733 Noonan syndrome 4
- OMIM:611553 Noonan syndrome 5
- OMIM:613224 Noonan syndrome 6
- OMIM:613706 Noonan syndrome 7
- OMIM:615355 Noonan syndrome 8
- OMIM:616559 Noonan syndrome 9
- ORPHA:500 Noonan syndrome with multiple lentigines
- ORPHA:2701 Noonan syndrome-like disorder with loose anagen hair
- OMIM:617506 Noonan syndrome-like disorder with loose anagen hair 2
- OMIM:613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM:607721 Noonan syndrome-like with loose anagen hair 1
- ORPHA:432 Normosmic congenital hypogonadotropic hypogonadism
- ORPHA:649 Norrie disease
- ORPHA:3032 NPHP3-related Meckel-like syndrome
- OMIM:257350 Nuchal bleb, familial
Code pathologie
Nom de la pathologie
- OMIM:618512 O'donnell-Luria-Rodan syndrome
- ORPHA:66628 Obesity due to congenital leptin deficiency
- ORPHA:179494 Obesity due to leptin receptor gene deficiency
- OMIM:613886 Obesity, hyperphagia, and developmental delay
- ORPHA:88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- ORPHA:198 Occipital horn syndrome
- OMIM:304150 Occipital horn syndrome
- ORPHA:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
- ORPHA:2714 Oculo-palato-cerebral syndrome
- OMIM:612109 Oculoauricular syndrome
- ORPHA:398156 Oculoauriculofrontonasal syndrome
- ORPHA:2549 Oculoauriculovertebral spectrum with radial defects
- OMIM:257790 Oculocerebral hypopigmentation syndrome of preus
- ORPHA:2719 Oculocerebral hypopigmentation syndrome, Cross type
- ORPHA:2720 Oculocerebral hypopigmentation syndrome, Preus type
- OMIM:257800 Oculocerebral syndrome with hypopigmentation
- OMIM:164180 Oculocerebrocutaneous syndrome
- ORPHA:1647 Oculocerebrocutaneous syndrome
- ORPHA:2707 Oculocerebrofacial syndrome, Kaufman type
- ORPHA:534 Oculocerebrorenal syndrome of Lowe
- ORPHA:55 Oculocutaneous albinism
- ORPHA:352731 Oculocutaneous albinism type 1
- ORPHA:79432 Oculocutaneous albinism type 2
- ORPHA:79433 Oculocutaneous albinism type 3
- ORPHA:370091 Oculocutaneous albinism type 5
- OMIM:164200 Oculodentodigital dysplasia
- ORPHA:2710 Oculodentodigital dysplasia
- OMIM:257850 Oculodentodigital dysplasia, autosomal recessive
- OMIM:600268 Oculoectodermal syndrome
- ORPHA:2712 Oculofaciocardiodental syndrome