OMIM ID | Human Disease |
OMIM:305400 |
Aarskog-Scott Syndrome; AAS
|
OMIM:100050 |
Aarskog Syndrome, Autosomal Dominant
|
OMIM:147800 |
Aase-Smith Syndrome I
|
OMIM:600501 |
Abcd Syndrome; ABCDS
|
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome 1; AOMS1
|
OMIM:615812 |
Abdominal Obesity-Metabolic Syndrome 3; AOMS3
|
OMIM:618620 |
Abdominal Obesity-Metabolic Syndrome 4; AOMS4
|
OMIM:605572 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
|
OMIM:100200 |
Abducens Palsy
|
OMIM:200100 |
Abetalipoproteinemia; ABL
|
OMIM:200110 |
Ablepharon-Macrostomia Syndrome; AMS
|
OMIM:261990 |
Abnormal Hair, Joint Laxity, and Developmental Delay; HJDD
|
OMIM:302905 |
Abruzzo-Erickson Syndrome; ABERS
|
OMIM:200130 |
Absent Eyebrows and Eyelashes with Impaired Intellectual Development
|
OMIM:100600 |
Acanthosis Nigricans
|
OMIM:200170 |
Acanthosis Nigricans with Muscle Cramps and Acral Enlargement
|
OMIM:614097 |
Acatalasemia
|
OMIM:614401 |
Accelerated Tumor Formation, Susceptibility To; ACTFS
|
OMIM:619959 |
Acces Syndrome; ACCES
|
OMIM:604290 |
Aceruloplasminemia; ACEP
|
OMIM:200300 |
Acetophenetidin Sensitivity
|
OMIM:243400 |
Acetylation, Slow
|
OMIM:614055 |
Acetyl-Coa Acetyltransferase-2 Deficiency; ACAT2D
|
OMIM:613933 |
Acetyl-Coa Carboxylase-Alpha Deficiency; ACACAD
|
OMIM:231550 |
Achalasia-Addisonianism-Alacrima Syndrome; AAAS
|
OMIM:200400 |
Achalasia, Familial Esophageal
|
OMIM:200450 |
Achalasia-Microcephaly Syndrome
|
OMIM:100700 |
Achard Syndrome
|
OMIM:200500 |
Acheiropody; ACHP
|
OMIM:200600 |
Achondrogenesis, Type IA; ACG1A
|
OMIM:600972 |
Achondrogenesis, Type IB; ACG1B
|
OMIM:200610 |
Achondrogenesis, Type II; ACG2
|
OMIM:100800 |
Achondroplasia; ACH
|
OMIM:616482 |
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans; SADDAN
|
OMIM:100820 |
ACHOO Syndrome
|
OMIM:216900 |
Achromatopsia 2; ACHM2
|
OMIM:262300 |
Achromatopsia 3; ACHM3
|
OMIM:613856 |
Achromatopsia 4; ACHM4
|
OMIM:616517 |
Achromatopsia 7; ACHM7
|
OMIM:615961 |
Acid-Labile Subunit Deficiency; ACLSD
|
OMIM:200950 |
Acid Phosphatase Deficiency
|
OMIM:200970 |
Ackerman Syndrome
|
OMIM:604324 |
Acne, Adult
|
OMIM:142690 |
Acne Inversa, Familial, 1; ACNINV1
|
OMIM:613736 |
Acne Inversa, Familial, 2, with or without Dowling-Degos Disease;
|
OMIM:613737 |
Acne Inversa, Familial, 3; ACNINV3
|
OMIM:200990 |
Acrocallosal Syndrome; ACLS
|
OMIM:607778 |
Acrocapitofemoral Dysplasia; ACFD
|
OMIM:200995 |
Acrocephalopolydactylous Dysplasia
|
OMIM:101120 |
Acrocephalopolysyndactyly Type III
|
OMIM:201020 |
Acrocephalopolysyndactyly Type IV
|
OMIM:201050 |
Acrocraniofacial Dysostosis
|
OMIM:201100 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ
|
OMIM:101800 |
Acrodysostosis 1 with or without Hormone Resistance; ACRDYS1
|
OMIM:614613 |
Acrodysostosis 2 with or without Hormone Resistance; ACRDYS2
|
OMIM:603740 |
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
|
OMIM:154400 |
Acrofacial Dysostosis 1, Nager Type; AFD1
|
OMIM:101805 |
Acrofacial Dysostosis, Catania Type
|
OMIM:616462 |
Acrofacial Dysostosis, Cincinnati Type; AFDCIN
|
OMIM:601829 |
Acrofacial Dysostosis, Palagonia Type
|
OMIM:201170 |
Acrofacial Dysostosis Syndrome of Rodriguez
|
OMIM:201180 |
Acrofrontofacionasal Dysostosis 1
|
OMIM:239710 |
Acrofrontofacionasal Dysostosis 2
|
OMIM:201200 |
Acrogeria, Gottron Type
|
OMIM:101840 |
Acrokeratoderma, Hereditary Papulotranslucent
|
OMIM:101900 |
Acrokeratosis Verruciformis; AKV
|
OMIM:102000 |
Acroleukopathy, Symmetric
|
OMIM:102100 |
Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma
|
OMIM:102150 |
Acromegaloid Facial Appearance Syndrome
|
OMIM:606049 |
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
|
OMIM:603671 |
Acromelic Frontonasal Dysostosis; AFND
|
OMIM:602875 |
Acromesomelic Dysplasia 1; AMD1
|
OMIM:200700 |
Acromesomelic Dysplasia 2A; AMD2A
|
OMIM:228900 |
Acromesomelic Dysplasia 2B; AMD2B
|
OMIM:201250 |
Acromesomelic Dysplasia 2c; AMD2C
|
OMIM:609441 |
Acromesomelic Dysplasia 3; AMD3
|
OMIM:619636 |
Acromesomelic Dysplasia 4; AMD4
|
OMIM:102350 |
Acromial Dimples
|
OMIM:102370 |
Acromicric Dysplasia; ACMICD
|
OMIM:102400 |
Acroosteolysis
|
OMIM:605967 |
Acropectoral Syndrome; ACRPS
|
OMIM:102510 |
Acropectorovertebral Dysplasia; ACRPV
|
OMIM:200980 |
Acrorenal-Mandibular Syndrome
|
OMIM:102520 |
Acrorenal Syndrome
|
OMIM:201310 |
Acrorenal Syndrome, Autosomal Recessive
|
OMIM:201400 |
Acth Deficiency, Isolated; IAD
|
OMIM:615954 |
Acth-Independent Macronodular Adrenal Hyperplasia 2; AIMAH2
|
OMIM:620990 |
Acth-Independent Macronodular Adrenal Hyperplasia 3; AIMAH3
|
OMIM:219080 |
Acth-Independent Macronodular Adrenal Hyperplasia; AIMAH1
|
OMIM:174770 |
Actinic Prurigo
|
OMIM:617749 |
Actn3 Deficiency
|
OMIM:606752 |
Acute Hemorrhagic Leukoencephalitis
|
OMIM:601676 |
Acute Insulin Response
|
OMIM:612376 |
Acute Promyelocytic Leukemia; APL
|
OMIM:201450 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD
|
OMIM:201470 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of; ACADSD
|
OMIM:201475 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of; ACADVLD
|
OMIM:102650 |
Adactylia, Unilateral
|
OMIM:102660 |
Adamantinoma of Long Bones
|
OMIM:100300 |
Adams-Oliver Syndrome 1; AOS1
|
OMIM:614219 |
Adams-Oliver Syndrome 2; AOS2
|
OMIM:614814 |
Adams-Oliver Syndrome 3; AOS3
|
OMIM:615297 |
Adams-Oliver Syndrome 4; AOS4
|
OMIM:616028 |
Adams-Oliver Syndrome 5; AOS5
|
OMIM:616589 |
Adams-Oliver Syndrome 6; AOS6
|
OMIM:314100 |
Adducted Thumbs, Congenital
|
OMIM:201550 |
Adducted Thumbs Syndrome
|
OMIM:614723 |
Adenine Phosphoribosyltransferase Deficiency; APRTD
|
OMIM:600458 |
Adenomyosis
|
OMIM:102900 |
Adenosine Triphosphate, Elevated, of Erythrocytes
|
OMIM:103050 |
Adenylosuccinase Deficiency; ADSLD
|
OMIM:136000 |
Adermatoglyphia; ADERM
|
OMIM:103100 |
Adie Pupil
|
OMIM:103200 |
Adiposis Dolorosa
|
OMIM:202110 |
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency
|
OMIM:201910 |
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency
|
OMIM:201810 |
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
|
OMIM:202010 |
Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency
|
OMIM:300200 |
Adrenal Hypoplasia, Congenital; AHC
|
OMIM:202150 |
Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone
|
OMIM:202155 |
Adrenal Hypoplasia, Cytomegalic Type
|
OMIM:613743 |
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete
|
OMIM:202300 |
Adrenocortical Carcinoma, Hereditary; ADCC
|
OMIM:103230 |
Adrenocortical Hypofunction, Chronic Primary Congenital
|
OMIM:202355 |
Adrenocortical Unresponsiveness to ACTH with Postreceptor Defect
|
OMIM:300100 |
Adrenoleukodystrophy; ALD
|
OMIM:300270 |
Adrenomyodystrophy
|
OMIM:103285 |
ADULT Syndrome
|
OMIM:604348 |
Advanced Sleep Phase Syndrome, Familial, 1; FASPS1
|
OMIM:615224 |
Advanced Sleep Phase Syndrome, Familial, 2; FASPS2
|
OMIM:616882 |
Advanced Sleep Phase Syndrome, Familial, 3; FASPS3
|
OMIM:620015 |
Advance Sleep Phase Syndrome, Familial, 4; FASPS4
|
OMIM:202400 |
Afibrinogenemia, Congenital
|
OMIM:619707 |
Agammaglobulinemia 10, Autosomal Dominant; AGM10
|
OMIM:601495 |
Agammaglobulinemia 1, Autosomal Recessive; AGM1
|
OMIM:613500 |
Agammaglobulinemia 2, Autosomal Recessive; AGM2
|
OMIM:613501 |
Agammaglobulinemia 3, Autosomal Recessive; AGM3
|
OMIM:613502 |
Agammaglobulinemia 4, Autosomal Recessive; AGM4
|
OMIM:613506 |
Agammaglobulinemia 5, Autosomal Dominant; AGM5
|
OMIM:612692 |
Agammaglobulinemia 6, Autosomal Recessive; AGM6
|
OMIM:615214 |
Agammaglobulinemia 7, Autosomal Recessive; AGM7
|
OMIM:616941 |
Agammaglobulinemia 8a, Autosomal Dominant; AGM8A
|
OMIM:619824 |
Agammaglobulinemia 8b, Autosomal Recessive; AGM8B
|
OMIM:619693 |
Agammaglobulinemia 9, Autosomal Recessive; AGM9
|
OMIM:610483 |
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
|
OMIM:300755 |
Agammaglobulinemia, X-Linked; XLA
|
OMIM:202550 |
Aganglionosis, Total Intestinal
|
OMIM:202600 |
Agenesis of Cerebral White Matter
|
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; ACCPN
|
OMIM:612448 |
Age-Related Hearing Impairment 1; ARHI1
|
OMIM:612976 |
Age-Related Hearing Impairment 2; ARHI2
|
OMIM:202650 |
Agnathia-Otocephaly Complex; AGOTC
|
OMIM:225750 |
Aicardi-Goutieres Syndrome 1; AGS1
|
OMIM:610181 |
Aicardi-Goutieres Syndrome 2; AGS2
|
OMIM:610329 |
Aicardi-Goutieres Syndrome 3; AGS3
|
OMIM:610333 |
Aicardi-Goutieres Syndrome 4; AGS4
|
OMIM:612952 |
Aicardi-Goutieres Syndrome 5; AGS5
|
OMIM:615010 |
Aicardi-Goutieres Syndrome 6; AGS6
|
OMIM:615846 |
Aicardi-Goutieres Syndrome 7; AGS7
|
OMIM:619486 |
Aicardi-Goutieres Syndrome 8; AGS8
|
OMIM:619487 |
Aicardi-Goutieres Syndrome 9; AGS9
|
OMIM:304050 |
Aicardi Syndrome; AIC
|
OMIM:608688 |
Aica-Ribosiduria Due to Atic Deficiency
|
OMIM:103400 |
Ainhum
|
OMIM:615510 |
Alacrima, Achalasia, and Impaired Intellectual Development Syndrome;
|
OMIM:103420 |
Alacrima, Congenital, Autosomal Dominant
|
OMIM:601549 |
Alacrima, Congenital, Autosomal Recessive
|
OMIM:118450 |
Alagille Syndrome 1; ALGS1
|
OMIM:610205 |
Alagille Syndrome 2; ALGS2
|
OMIM:300600 |
Aland Island Eye Disease; AIED
|
OMIM:202900 |
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
|
OMIM:614687 |
Alar Cleft, Isolated
|
OMIM:615071 |
Alazami Syndrome; ALAZS
|
OMIM:617126 |
Alazami-Yuan Syndrome; ALYUS
|
OMIM:300700 |
Albinism-Deafness Syndrome; ADFN
|
OMIM:203340 |
Albinism-Microcephaly-Digital Anomalies Syndrome
|
OMIM:300500 |
Albinism, Ocular, Type I; OA1
|
OMIM:300650 |
Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD
|
OMIM:203100 |
Albinism, Oculocutaneous, Type IA; OCA1A
|
OMIM:606952 |
Albinism, Oculocutaneous, Type IB; OCA1B
|
OMIM:203290 |
Albinism, Oculocutaneous, Type III; OCA3
|
OMIM:203200 |
Albinism, Oculocutaneous, Type II; OCA2
|
OMIM:606574 |
Albinism, Oculocutaneous, Type IV; OCA4
|
OMIM:615179 |
Albinism, Oculocutaneous, Type VII; OCA7
|
OMIM:615312 |
Albinism, Oculocutaneous, Type V; OCA5
|
OMIM:103780 |
Alcohol Dependence
|
OMIM:610251 |
Alcohol Sensitivity, Acute
|
OMIM:100650 |
Aldehyde Dehydrogenase 2 Family; ALDH2
|
OMIM:203450 |
Alexander Disease; ALXDRD
|
OMIM:620655 |
Alfadhel Syndrome; AFDL
|
OMIM:607131 |
Al-Gazali-Bakalinova Syndrome; AGBK
|
OMIM:609465 |
Al-Gazali Syndrome; ALGAZ
|
OMIM:617694 |
Al Kaissi Syndrome; ALKAS
|
OMIM:203500 |
Alkaptonuria; AKU
|
OMIM:617822 |
Alkuraya-Kucinskas Syndrome; ALKKUCS
|
OMIM:300523 |
Allan-Herndon-Dudley Syndrome; AHDS
|
OMIM:103920 |
Allergic Bronchopulmonary Aspergillosis, Familial
|
OMIM:607154 |
Allergic Rhinitis
|
OMIM:109200 |
Alopecia, Androgenetic, 1; AGA1
|
OMIM:300710 |
Alopecia, Androgenetic, 2; AGA2
|
OMIM:612421 |
Alopecia, Androgenetic, 3; AGA3
|
OMIM:104000 |
Alopecia Areata 1; AA1
|
OMIM:610753 |
Alopecia Areata 2; AA2
|
OMIM:300042 |
Alopecia, Congenital; ALPC
|
OMIM:203600 |
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
|
OMIM:104110 |
Alopecia, Familial Focal; ALPF
|
OMIM:601217 |
Alopecia-Impaired Intellectual Developmental Syndrome with Convulsions and Hypergonadotropic Hypogonadism
|
OMIM:203650 |
Alopecia-Intellectual Disability Syndrome 1; APMR1
|
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 2; APMR2
|
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 3; APMR3
|
OMIM:618840 |
Alopecia-Intellectual Disability Syndrome 4; APMR4
|
OMIM:612079 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome; ANES
|
OMIM:104130 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality
|
OMIM:203655 |
Alopecia Universalis Congenita; ALUNC
|
OMIM:608509 |
Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
|
OMIM:613490 |
Alpha-1-Antitrypsin Deficiency; A1ATD
|
OMIM:203760 |
Alpha-2-Deficient Collagen Disease
|
OMIM:614036 |
Alpha-2-Macroglobulin Deficiency; A2MD
|
OMIM:262850 |
Alpha-2-Plasmin Inhibitor Deficiency
|
OMIM:204750 |
Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria; AAKAD
|
OMIM:609889 |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
|
OMIM:615969 |
Alpha-Fetoprotein Deficiency; AFPD
|
OMIM:615970 |
Alpha-Fetoprotein, Hereditary Persistence Of; HPAFP
|
OMIM:203750 |
Alpha-Methylacetoacetic Aciduria
|
OMIM:614307 |
Alpha-Methylacyl-Coa Racemase Deficiency; AMACRD
|
OMIM:604131 |
Alpha-Thalassemia
|
OMIM:141750 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, Deletion Type
|
OMIM:301040 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked; ATRX
|
OMIM:300448 |
Alpha-Thalassemia Myelodysplasia Syndrome; ATMDS
|
OMIM:301050 |
Alport Syndrome 1, X-Linked; ATS1
|
OMIM:203780 |
Alport Syndrome 2, Autosomal Recessive; ATS2
|
OMIM:104200 |
Alport Syndrome 3a, Autosomal Dominant; ATS3A
|
OMIM:620536 |
Alport Syndrome 3b, Autosomal Recessive; ATS3B
|
OMIM:616459 |
Al-Raqad Syndrome; ARS
|
OMIM:203800 |
Alstrom Syndrome; ALMS
|
OMIM:104290 |
Alternating Hemiplegia of Childhood 1; AHC1
|
OMIM:614820 |
Alternating Hemiplegia of Childhood 2; AHC2
|
OMIM:265380 |
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins;
|
OMIM:606243 |
Alveolar Soft Part Sarcoma; ASPS
|
OMIM:619268 |
Alzahrani-Kuwahara Syndrome; ALKUS
|
OMIM:609636 |
Alzheimer Disease 10
|
OMIM:609790 |
Alzheimer Disease 11
|
OMIM:611073 |
Alzheimer Disease 12
|
OMIM:611152 |
Alzheimer Disease 13; AD13
|
OMIM:611154 |
Alzheimer Disease 14; AD14
|
OMIM:604154 |
Alzheimer Disease 15; AD15
|
OMIM:300756 |
Alzheimer Disease 16; AD16
|
OMIM:615080 |
Alzheimer Disease 17; AD17
|
OMIM:615590 |
Alzheimer Disease 18; AD18
|
OMIM:615711 |
Alzheimer Disease 19; AD19
|
OMIM:104310 |
Alzheimer Disease 2; AD2
|
OMIM:607822 |
Alzheimer Disease 3; AD3
|
OMIM:606889 |
Alzheimer Disease 4; AD4
|
OMIM:602096 |
Alzheimer Disease 5
|
OMIM:605526 |
Alzheimer Disease 6
|
OMIM:606187 |
Alzheimer Disease 7
|
OMIM:607116 |
Alzheimer Disease 8
|
OMIM:608907 |
Alzheimer Disease 9, Susceptibility To; AD9
|
OMIM:104300 |
Alzheimer Disease, Familial, 1; AD1
|
OMIM:605055 |
Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology
|
OMIM:502500 |
Alzheimer Disease, Susceptibility to, Mitochondrial
|
OMIM:104350 |
Amastia, Bilateral, with Ureteral Triplication and Dysmorphism
|
OMIM:204110 |
Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis
|
OMIM:619151 |
Amed Syndrome, Digenic; AMEDS
|
OMIM:604498 |
Amegakaryocytic Thrombocytopenia, Congenital, 1; CAMT1
|
OMIM:620481 |
Amegakaryocytic Thrombocytopenia, Congenital, 2; CAMT2
|
OMIM:104400 |
Amelia and Terminal Transverse Hemimelia
|
OMIM:601360 |
Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome;
|
OMIM:204700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1; AI2A1
|
OMIM:612529 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2; AI2A2
|
OMIM:613211 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3; AI2A3
|
OMIM:614832 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4; AI2A4
|
OMIM:615887 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5; AI2A5
|
OMIM:617217 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6; AI2A6
|
OMIM:301201 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
|
OMIM:104530 |
Amelogenesis Imperfecta, Type IA; AI1A
|
OMIM:104500 |
Amelogenesis Imperfecta, Type IB; AI1B
|
OMIM:204650 |
Amelogenesis Imperfecta, Type Ic; AI1C
|
OMIM:301200 |
Amelogenesis Imperfecta, Type IE; AI1E
|
OMIM:616270 |
Amelogenesis Imperfecta, Type IF; AI1F
|
OMIM:204690 |
Amelogenesis Imperfecta, Type IG; AI1G
|
OMIM:616221 |
Amelogenesis Imperfecta, Type IH; AI1H
|
OMIM:130900 |
Amelogenesis Imperfecta, Type IIIA; AI3A
|
OMIM:617607 |
Amelogenesis Imperfecta, Type IIIB; AI3B
|
OMIM:618386 |
Amelogenesis Imperfecta, Type Iiic; AI3C
|
OMIM:617297 |
Amelogenesis Imperfecta, Type IJ; AI1J
|
OMIM:620104 |
Amelogenesis Imperfecta, Type IK; AI1K
|
OMIM:104510 |
Amelogenesis Imperfecta, Type IV; AI4
|
OMIM:104570 |
Ameloonychohypohidrotic Syndrome
|
OMIM:104600 |
Amenorrhea-Galactorrhea Syndrome
|
OMIM:204730 |
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
|
OMIM:609924 |
Aminoacylase 1 Deficiency; ACY1D
|
OMIM:600325 |
Aminopterin Syndrome Sine Aminopterin; ASSA
|
OMIM:300194 |
AMME Complex
|
OMIM:204800 |
Amobarbital, Deficient N-Hydroxylation of
|
OMIM:204900 |
Amyloidosis, Cutaneous Bullous
|
OMIM:105120 |
Amyloidosis, Finnish Type
|
OMIM:105210 |
Amyloidosis, Hereditary Systemic 1; AMYLD1
|
OMIM:105200 |
Amyloidosis, Hereditary Systemic 2; AMYLD2
|
OMIM:620657 |
Amyloidosis, Hereditary Systemic 3; AMYLD3
|
OMIM:620658 |
Amyloidosis, Hereditary Systemic 5; AMYLD5
|
OMIM:620659 |
Amyloidosis, Hereditary Systemic 6; AMYLD6
|
OMIM:204850 |
Amyloidosis of Gingiva and Conjunctiva with Impaired Intellectual Development
|
OMIM:105250 |
Amyloidosis, Primary Localized Cutaneous, 1; PLCA1
|
OMIM:613955 |
Amyloidosis, Primary Localized Cutaneous, 2; PLCA2
|
OMIM:617920 |
Amyloidosis, Primary Localized Cutaneous, 3; PLCA3
|
OMIM:205000 |
Amyotonia Congenita
|
OMIM:105300 |
Amyotrophic Dystonic Paraplegia
|
OMIM:612069 |
Amyotrophic Lateral Sclerosis 10 with or without Frontotemporal Dementia; ALS10
|
OMIM:612577 |
Amyotrophic Lateral Sclerosis 11; ALS11
|
OMIM:613435 |
Amyotrophic Lateral Sclerosis 12 with or without Frontotemporal Dementia; ALS12
|
OMIM:300857 |
Amyotrophic Lateral Sclerosis 15 with or without Frontotemporal Dementia; ALS15
|
OMIM:614373 |
Amyotrophic Lateral Sclerosis 16, Juvenile; ALS16
|
OMIM:614808 |
Amyotrophic Lateral Sclerosis 18; ALS18
|
OMIM:615515 |
Amyotrophic Lateral Sclerosis 19; ALS19
|
OMIM:105400 |
Amyotrophic Lateral Sclerosis 1; ALS1
|
OMIM:615426 |
Amyotrophic Lateral Sclerosis 20; ALS20
|
OMIM:606070 |
Amyotrophic Lateral Sclerosis 21; ALS21
|
OMIM:616208 |
Amyotrophic Lateral Sclerosis 22 with or without Frontotemporal Dementia;
|
OMIM:617839 |
Amyotrophic Lateral Sclerosis 23; ALS23
|
OMIM:619133 |
Amyotrophic Lateral Sclerosis 26 with or without Frontotemporal Dementia; ALS26
|
OMIM:620285 |
Amyotrophic Lateral Sclerosis 27, Juvenile; ALS27
|
OMIM:620452 |
Amyotrophic Lateral Sclerosis 28; ALS28
|
OMIM:205100 |
Amyotrophic Lateral Sclerosis 2, Juvenile; ALS2
|
OMIM:606640 |
Amyotrophic Lateral Sclerosis 3; ALS3
|
OMIM:602433 |
Amyotrophic Lateral Sclerosis 4, Juvenile; ALS4
|
OMIM:602099 |
Amyotrophic Lateral Sclerosis 5, Juvenile; ALS5
|
OMIM:608030 |
Amyotrophic Lateral Sclerosis 6 with or without Frontotemporal Dementia; ALS6
|
OMIM:608031 |
Amyotrophic Lateral Sclerosis 7; ALS7
|
OMIM:608627 |
Amyotrophic Lateral Sclerosis 8; ALS8
|
OMIM:611895 |
Amyotrophic Lateral Sclerosis 9; ALS9
|
OMIM:205200 |
Amyotrophic Lateral Sclerosis, Juvenile, with Dementia
|
OMIM:105500 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
|
OMIM:617892 |
Amyotrophic Lateral Sclerosis, Susceptibility to, 24; ALS24
|
OMIM:617921 |
Amyotrophic Lateral Sclerosis, Susceptibility to, 25; ALS25
|
OMIM:205250 |
Amyotrophic Lateral Sclerosis with Polyglucosan Bodies
|
OMIM:162100 |
Amyotrophy, Hereditary Neuralgic; HNA
|
OMIM:602440 |
Amyotrophy, Monomelic
|
OMIM:602553 |
Anal Atresia, Hypospadias, and Penoscrotal Inversion
|
OMIM:616000 |
Analbuminemia; ANALBA
|
OMIM:105580 |
Anal Canal Carcinoma
|
OMIM:105563 |
Anal Sphincter Dysplasia; ASDP
|
OMIM:105565 |
Anal Sphincter Myopathy, Internal
|
OMIM:607095 |
Anauxetic Dysplasia 1; ANXD1
|
OMIM:617396 |
Anauxetic Dysplasia 2; ANXD2
|
OMIM:618853 |
Anauxetic Dysplasia 3; ANXD3
|
OMIM:170390 |
Andersen Cardiodysrhythmic Periodic Paralysis
|
OMIM:312300 |
Androgen Insensitivity, Partial; PAIS
|
OMIM:300068 |
Androgen Insensitivity Syndrome; AIS
|
OMIM:205700 |
Anemia, Autoimmune Hemolytic
|
OMIM:224120 |
Anemia, Congenital Dyserythropoietic, Type IA; CDAN1A
|
OMIM:615631 |
Anemia, Congenital Dyserythropoietic, Type IB; CDAN1B
|
OMIM:224100 |
Anemia, Congenital Dyserythropoietic, Type II; CDAN2
|
OMIM:105600 |
Anemia, Congenital Dyserythropoietic, Type IIIA; CDAN3A
|
OMIM:619789 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive;
|
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type IVA; CDAN4A
|
OMIM:620969 |
Anemia, Congenital Dyserythropoietic, Type Ivb; CDAN4B
|
OMIM:604315 |
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Impaired Intellectual Development Syndrome
|
OMIM:618660 |
Anemia, Congenital, Nonspherocytic Hemolytic, 10; CNSHA10
|
OMIM:300908 |
Anemia, Congenital, Nonspherocytic Hemolytic, 1; CNSHA1
|
OMIM:266200 |
Anemia, Congenital, Nonspherocytic Hemolytic, 2; CNSHA2
|
OMIM:612631 |
Anemia, Congenital, Nonspherocytic Hemolytic, 3; CNSHA3
|
OMIM:613470 |
Anemia, Congenital, Nonspherocytic Hemolytic, 4; CNSHA4
|
OMIM:235700 |
Anemia, Congenital, Nonspherocytic Hemolytic, 5; CNSHA5
|
OMIM:231900 |
Anemia, Congenital, Nonspherocytic Hemolytic, 6; CNSHA6
|
OMIM:230450 |
Anemia, Congenital, Nonspherocytic Hemolytic, 7; CNSHA7
|
OMIM:266120 |
Anemia, Congenital, Nonspherocytic Hemolytic, 8; CNSHA8
|
OMIM:301083 |
Anemia, Congenital, Nonspherocytic Hemolytic, 9; CNSHA9
|
OMIM:206100 |
Anemia, Hypochromic Microcytic, with Iron Overload 1; AHMIO1
|
OMIM:615234 |
Anemia, Hypochromic Microcytic, with Iron Overload 2; AHMIO2
|
OMIM:206300 |
Anemia, Nonspherocytic Hemolytic, Associated with Abnormality of Red Cell Membrane
|
OMIM:206400 |
Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism
|
OMIM:300751 |
Anemia, Sideroblastic, 1; SIDBA1
|
OMIM:205950 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory; SIDBA2
|
OMIM:616860 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory; SIDBA3
|
OMIM:182170 |
Anemia, Sideroblastic, 4; SIDBA4
|
OMIM:619523 |
Anemia, Sideroblastic, 5; SIDBA5
|
OMIM:206000 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
|
OMIM:300835 |
Anemia, X-Linked, with or without Neutropenia and/or Platelet Abnormalities; XLANP
|
OMIM:206500 |
Anencephaly 1; ANPH1
|
OMIM:619452 |
Anencephaly 2; ANPH2
|
OMIM:606179 |
Aneurysmal Bone Cysts
|
OMIM:612587 |
Aneurysm, Intracranial Berry, 10; ANIB10
|
OMIM:614252 |
Aneurysm, Intracranial Berry, 11; ANIB11
|
OMIM:618734 |
Aneurysm, Intracranial Berry, 12; ANIB12
|
OMIM:105800 |
Aneurysm, Intracranial Berry, 1; ANIB1
|
OMIM:608542 |
Aneurysm, Intracranial Berry, 2; ANIB2
|
OMIM:609122 |
Aneurysm, Intracranial Berry, 3; ANIB3
|
OMIM:610213 |
Aneurysm, Intracranial Berry, 4; ANIB4
|
OMIM:300870 |
Aneurysm, Intracranial Berry, 5; ANIB5
|
OMIM:611892 |
Aneurysm, Intracranial Berry, 6; ANIB6
|
OMIM:612161 |
Aneurysm, Intracranial Berry, 7; ANIB7
|
OMIM:612162 |
Aneurysm, Intracranial Berry, 8; ANIB8
|
OMIM:612586 |
Aneurysm, Intracranial Berry, 9; ANIB9
|
OMIM:105805 |
Aneurysm of Interventricular Septum
|
OMIM:105830 |
Angelman Syndrome; AS
|
OMIM:105835 |
Angel-Shaped Phalangoepiphyseal Dysplasia; ASPED
|
OMIM:106100 |
Angioedema, Hereditary, 1; HAE1
|
OMIM:610618 |
Angioedema, Hereditary, 3; HAE3
|
OMIM:619360 |
Angioedema, Hereditary, 4; HAE4
|
OMIM:619361 |
Angioedema, Hereditary, 5; HAE5
|
OMIM:619363 |
Angioedema, Hereditary, 6; HAE6
|
OMIM:619366 |
Angioedema, Hereditary, 7; HAE7
|
OMIM:619367 |
Angioedema, Hereditary, 8; HAE8
|
OMIM:300909 |
Angioedema Induced By Ace Inhibitors, Susceptibility To; AEACEI
|
OMIM:607140 |
Angioid Streaks
|
OMIM:600419 |
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
|
OMIM:206550 |
Angiolipomatosis, Familial
|
OMIM:106070 |
Angioma, Hereditary Neurocutaneous
|
OMIM:106050 |
Angioma Serpiginosum, Autosomal Dominant
|
OMIM:300652 |
Angioma Serpiginosum, X-Linked
|
OMIM:206570 |
Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert
|
OMIM:607859 |
Angioma, Tufted
|
OMIM:611773 |
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps; HANAC
|
OMIM:106180 |
Angiotensin I-Converting Enzyme; ACE
|
OMIM:614081 |
Anhaptoglobinemia; AHP
|
OMIM:206600 |
Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands
|
OMIM:106190 |
Anhidrosis, Isolated, with Normal Sweat Glands; ANHD
|
OMIM:106210 |
Aniridia 1; AN1
|
OMIM:617141 |
Aniridia 2; AN2
|
OMIM:617142 |
Aniridia 3; AN3
|
OMIM:106220 |
Aniridia and Absent Patella
|
OMIM:106230 |
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
|
OMIM:206750 |
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation
|
OMIM:106240 |
Anisocoria
|
OMIM:605746 |
Anisomastia
|
OMIM:106260 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate; AEC
|
OMIM:106250 |
Ankyloblepharon Filiforme Adnatum and Cleft Palate; AFA
|
OMIM:106280 |
Ankyloglossia with or without Tooth Anomalies; ANKG
|
OMIM:106400 |
Ankylosing Vertebral Hyperostosis with Tylosis
|
OMIM:106500 |
Annular Erythema
|
OMIM:206780 |
Anodontia of Permanent Dentition
|
OMIM:106900 |
Anonychia-Ectrodactyly
|
OMIM:106990 |
Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly
|
OMIM:106995 |
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
|
OMIM:607214 |
Anonychia, Total, with Microcephaly
|
OMIM:106750 |
Anonychia with Flexural Pigmentation
|
OMIM:107100 |
Anorectal Anomalies
|
OMIM:606788 |
Anorexia Nervosa, Susceptibility To; ANON
|
OMIM:270350 |
Anosmia for Butyl Mercaptan
|
OMIM:207000 |
Anosmia for Isobutyric Acid
|
OMIM:107200 |
Anosmia, Isolated Congenital; ANIC
|
OMIM:301700 |
Anosmia, Isolated Congenital, X-Linked
|
OMIM:601427 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis
|
OMIM:107250 |
Anterior Segment Dysgenesis 1; ASGD1
|
OMIM:610256 |
Anterior Segment Dysgenesis 2; ASGD2
|
OMIM:601631 |
Anterior Segment Dysgenesis 3; ASGD3
|
OMIM:137600 |
Anterior Segment Dysgenesis 4; ASGD4
|
OMIM:604229 |
Anterior Segment Dysgenesis 5; ASGD5
|
OMIM:617315 |
Anterior Segment Dysgenesis 6; ASGD6
|
OMIM:269400 |
Anterior Segment Dysgenesis 7; ASGD7
|
OMIM:617319 |
Anterior Segment Dysgenesis 8; ASGD8
|
OMIM:158030 |
Antigen Defined By Monoclonal Antibody Aj9
|
OMIM:158040 |
Antigen Defined By Monoclonal Antibody T87
|
OMIM:107254 |
Antigen Identified By Monoclonal Antibody 30.2a8; MIC12
|
OMIM:107260 |
Antigen Msk41 Identified By Monoclonal Antibody E3; MSK41
|
OMIM:107320 |
Antiphospholipid Syndrome, Familial
|
OMIM:107290 |
Antipyrine Metabolism
|
OMIM:207300 |
Antithrombin, Familial Hemorrhagic Diathesis Due to
|
OMIM:613118 |
Antithrombin III Deficiency; AT3D
|
OMIM:107440 |
Antiviral State Repressor, Regulator Of; AVRR
|
OMIM:201750 |
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis; ABS1
|
OMIM:207410 |
Antley-Bixler Syndrome without Genital Anomalies or Disordered Steroidogenesis;
|
OMIM:301800 |
Anus, Imperforate
|
OMIM:207500 |
Anus, Imperforate
|
OMIM:607834 |
Anxiety
|
OMIM:100070 |
Aortic Aneurysm, Familial Abdominal, 1; AAA1
|
OMIM:609782 |
Aortic Aneurysm, Familial Abdominal, 2; AAA2
|
OMIM:611891 |
Aortic Aneurysm, Familial Abdominal, 3; AAA3
|
OMIM:614375 |
Aortic Aneurysm, Familial Abdominal, 4; AAA4
|
OMIM:617168 |
Aortic Aneurysm, Familial Thoracic 10; AAT10
|
OMIM:617349 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To; AAT11
|
OMIM:619825 |
Aortic Aneurysm, Familial Thoracic 12; AAT12
|
OMIM:607086 |
Aortic Aneurysm, Familial Thoracic 1; AAT1
|
OMIM:607087 |
Aortic Aneurysm, Familial Thoracic 2; AAT2
|
OMIM:132900 |
Aortic Aneurysm, Familial Thoracic 4; AAT4
|
OMIM:611788 |
Aortic Aneurysm, Familial Thoracic 6; AAT6
|
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 7; AAT7
|
OMIM:615436 |
Aortic Aneurysm, Familial Thoracic 8; AAT8
|
OMIM:616166 |
Aortic Aneurysm, Familial Thoracic 9; AAT9
|
OMIM:107500 |
Aortic Arch Anomaly with Peculiar Facies and Impaired Intellectual Development
|
OMIM:107550 |
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
|
OMIM:109730 |
Aortic Valve Disease 1; AOVD1
|
OMIM:614823 |
Aortic Valve Disease 2; AOVD2
|
OMIM:618496 |
Aortic Valve Disease 3; AOVD3
|
OMIM:101200 |
Apert Syndrome
|
OMIM:600384 |
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV
|
OMIM:207620 |
Aphalangy with Hemivertebrae
|
OMIM:601075 |
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
|
OMIM:107600 |
Aplasia Cutis Congenita, Nonsyndromic; ACC
|
OMIM:600360 |
Aplasia Cutis Congenita of Limbs, Autosomal Recessive
|
OMIM:207731 |
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
|
OMIM:620789 |
Aplasia Cutis-Enamel Dysplasia Syndrome; ACED
|
OMIM:207740 |
Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy
|
OMIM:180920 |
Aplasia of Lacrimal and Salivary Glands; ALSG
|
OMIM:609135 |
Aplastic Anemia
|
OMIM:207720 |
Apnea, Central Sleep
|
OMIM:107640 |
Apnea, Central Sleep
|
OMIM:107650 |
Apnea, Obstructive Sleep
|
OMIM:107670 |
Apolipoprotein A-Ii; APOA2
|
OMIM:207750 |
Apolipoprotein C-II Deficiency
|
OMIM:614028 |
Apolipoprotein C-Iii Deficiency
|
OMIM:218030 |
Apparent Mineralocorticoid Excess; AME
|
OMIM:107700 |
Appendicitis, Proneness to
|
OMIM:603119 |
Apraxia of Eyelid Opening
|
OMIM:601374 |
Aprosencephaly and Cerebellar Dysgenesis
|
OMIM:207770 |
Aprosencephaly Syndrome
|
OMIM:207790 |
Arachnoid Cysts, Intracranial
|
OMIM:107750 |
Arbitrary Restriction Polymorphism 1
|
OMIM:616268 |
Arboleda-Tham Syndrome; ARTHS
|
OMIM:107800 |
Arcus Corneae
|
OMIM:207780 |
Aredyld
|
OMIM:207800 |
Argininemia
|
OMIM:207900 |
Argininosuccinic Aciduria
|
OMIM:243910 |
Arima Syndrome
|
OMIM:107900 |
Arms, Malformation of
|
OMIM:613546 |
Aromatase Deficiency
|
OMIM:139300 |
Aromatase Excess Syndrome; AEXS
|
OMIM:608643 |
Aromatic L-Amino Acid Decarboxylase Deficiency; AADCD
|
OMIM:620519 |
Arrhythmogenic Cardiomyopathy with Variable Ectodermal Abnormalities;
|
OMIM:610193 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10; ARVD10
|
OMIM:610476 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11; ARVD11
|
OMIM:611528 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; ARVD12
|
OMIM:615616 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13; ARVD13
|
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14; ARVD14
|
OMIM:107970 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; ARVD1
|
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3; ARVD3
|
OMIM:602087 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4; ARVD4
|
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5; ARVD5
|
OMIM:604401 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6; ARVD6
|
OMIM:607450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8; ARVD8
|
OMIM:609040 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9; ARVD9
|
OMIM:208000 |
Arterial Calcification, Generalized, of Infancy, 1; GACI1
|
OMIM:614473 |
Arterial Calcification, Generalized, of Infancy, 2; GACI2
|
OMIM:600459 |
Arterial Dissection with Lentiginosis
|
OMIM:620908 |
Arterial Tortuosity-Bone Fragility Syndrome; ATBFS
|
OMIM:208050 |
Arterial Tortuosity Syndrome; ATORS
|
OMIM:108000 |
Arteries, Anomalies of
|
OMIM:208060 |
Arteriosclerosis, Severe Juvenile
|
OMIM:108010 |
Arteriovenous Malformations of the Brain
|
OMIM:108050 |
Arteritis, Familial Granulomatous, with Juvenile Polyarthritis
|
OMIM:108100 |
Arthritis, Sacroiliac
|
OMIM:601701 |
Arthrogryposis and Ectodermal Dysplasia
|
OMIM:618265 |
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development; ACCIID
|
OMIM:300158 |
Arthrogryposis, Congenital, Lower Limb, X-Linked; ACLLX
|
OMIM:187370 |
Arthrogryposis, Distal, Type 10; DA10
|
OMIM:620019 |
Arthrogryposis, Distal, Type 11; DA11
|
OMIM:620545 |
Arthrogryposis, Distal, Type 12; DA12
|
OMIM:108120 |
Arthrogryposis, Distal, Type 1A; DA1A
|
OMIM:614335 |
Arthrogryposis, Distal, Type 1B; DA1B
|
OMIM:619110 |
Arthrogryposis, Distal, Type 1C; DA1C
|
OMIM:193700 |
Arthrogryposis, Distal, Type 2A; DA2A
|
OMIM:601680 |
Arthrogryposis, Distal, Type 2B1; DA2B1
|
OMIM:618435 |
Arthrogryposis, Distal, Type 2B2; DA2B2
|
OMIM:618436 |
Arthrogryposis, Distal, Type 2b3; DA2B3
|
OMIM:121070 |
Arthrogryposis, Distal, Type 2E
|
OMIM:114300 |
Arthrogryposis, Distal, Type 3; DA3
|
OMIM:609128 |
Arthrogryposis, Distal, Type 4; DA4
|
OMIM:108145 |
Arthrogryposis, Distal, Type 5; DA5
|
OMIM:615065 |
Arthrogryposis, Distal, Type 5d; DA5D
|
OMIM:108200 |
Arthrogryposis, Distal, Type 6; DA6
|
OMIM:158300 |
Arthrogryposis, Distal, Type 7; DA7
|
OMIM:208081 |
Arthrogryposis, Distal, with Impaired Intellectual Development and Characteristic Facies
|
OMIM:617146 |
Arthrogryposis, Distal, with Impaired Proprioception and Touch; DAIPT
|
OMIM:301815 |
Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay
|
OMIM:615553 |
Arthrogryposis, Impaired Intellectual Development, and Seizures; AMRS
|
OMIM:617468 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect;
|
OMIM:208100 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type; AMC2
|
OMIM:618484 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type; AMC3
|
OMIM:618766 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum; AMC4
|
OMIM:618947 |
Arthrogryposis Multiplex Congenita 5; AMC5
|
OMIM:619334 |
Arthrogryposis Multiplex Congenita 6; AMC6
|
OMIM:301127 |
Arthrogryposis Multiplex Congenita 7, X-Linked; AMC7
|
OMIM:610001 |
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
|
OMIM:614262 |
Arthrogryposis, Perthes Disease, and Upward Gaze Palsy; APUG
|
OMIM:208085 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1; ARCS1
|
OMIM:613404 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARCS2
|
OMIM:208158 |
Arthrogryposis with Hyperkeratosis
|
OMIM:605935 |
Arthropathy, Erosive
|
OMIM:301835 |
Arts Syndrome; ARTS
|
OMIM:604291 |
Ascaris Lumbricoides Infection, Susceptibility to
|
OMIM:208300 |
Ascites, Chylous
|
OMIM:615574 |
Asparagine Synthetase Deficiency; ASNSD
|
OMIM:208400 |
Aspartylglucosaminuria; AGU
|
OMIM:608638 |
Asperger Syndrome, Susceptibility to, 1; ASPG1
|
OMIM:608631 |
Asperger Syndrome, Susceptibility to, 2; ASPG2
|
OMIM:608781 |
Asperger Syndrome, Susceptibility to, 3; ASPG3
|
OMIM:609954 |
Asperger Syndrome, Susceptibility to, 4; ASPG4
|
OMIM:614079 |
Aspergillosis, Susceptibility to
|
OMIM:608223 |
Aspirin Resistance
|
OMIM:271400 |
Asplenia, Isolated Congenital; ICAS
|
OMIM:208550 |
Asthma, Nasal Polyps, and Aspirin Intolerance
|
OMIM:607277 |
Asthma-Related Traits, Susceptibility to, 1
|
OMIM:608584 |
Asthma-Related Traits, Susceptibility to, 2
|
OMIM:609958 |
Asthma-Related Traits, Susceptibility to, 3
|
OMIM:610906 |
Asthma-Related Traits, Susceptibility to, 4
|
OMIM:611064 |
Asthma-Related Traits, Susceptibility to, 5
|
OMIM:611403 |
Asthma-Related Traits, Susceptibility to, 6
|
OMIM:611960 |
Asthma-Related Traits, Susceptibility to, 7; ASRT7
|
OMIM:613207 |
Asthma-Related Traits, Susceptibility to, 8; ASRT8
|
OMIM:208600 |
Asthma, Short Stature, and Elevated Iga
|
OMIM:600807 |
Asthma, Susceptibility to
|
OMIM:603047 |
Astigmatism
|
OMIM:108450 |
Asymmetric Short Stature Syndrome
|
OMIM:500010 |
Ataxia and Polyneuropathy, Adult-Onset
|
OMIM:616192 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus; ACPHD
|
OMIM:208750 |
Ataxia, Deafness, and Cardiomyopathy
|
OMIM:208850 |
Ataxia-Deafness-Retardation Syndrome
|
OMIM:208920 |
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia;
|
OMIM:619352 |
Ataxia, Intention Tremor, and Hypotonia Syndrome, Childhood-Onset;
|
OMIM:208870 |
Ataxia-Microcephaly-Cataract Syndrome
|
OMIM:615217 |
Ataxia-Oculomotor Apraxia 3; AOA3
|
OMIM:616267 |
Ataxia-Oculomotor Apraxia 4; AOA4
|
OMIM:159550 |
Ataxia-Pancytopenia Syndrome; ATXPC
|
OMIM:608984 |
Ataxia, Sensory, 1, Autosomal Dominant; SNAX1
|
OMIM:270500 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Impaired Intellectual Development
|
OMIM:208900 |
Ataxia-Telangiectasia; AT
|
OMIM:604391 |
Ataxia-Telangiectasia-Like Disorder 1; ATLD1
|
OMIM:615919 |
Ataxia-Telangiectasia-Like Disorder 2; ATLD2
|
OMIM:208910 |
Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death
|
OMIM:108700 |
Ataxia with Fasciculations
|
OMIM:208700 |
Ataxia with Myoclonic Epilepsy and Presenile Dementia
|
OMIM:277460 |
Ataxia with Vitamin E Deficiency; AVED
|
OMIM:620184 |
Atelis Syndrome 1; ATELS1
|
OMIM:620185 |
Atelis Syndrome 2; ATELS2
|
OMIM:108720 |
Atelosteogenesis, Type I; AO1
|
OMIM:256050 |
Atelosteogenesis, Type II; AO2
|
OMIM:108721 |
Atelosteogenesis, Type III; AO3
|
OMIM:601536 |
Athabaskan Brainstem Dysgenesis Syndrome; ABDS
|
OMIM:209010 |
Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
|
OMIM:108725 |
Atherosclerosis Susceptibility; ATHS
|
OMIM:209050 |
Athrombia, Essential
|
OMIM:300431 |
Atkin-Flaitz Syndrome
|
OMIM:209100 |
Atonic-Astatic Syndrome of Foerster
|
OMIM:209300 |
Atransferrinemia
|
OMIM:108760 |
Atresia of External Auditory Canal and Conductive Deafness
|
OMIM:614022 |
Atrial Fibrillation, Familial, 10; ATFB10
|
OMIM:614049 |
Atrial Fibrillation, Familial, 11; ATFB11
|
OMIM:614050 |
Atrial Fibrillation, Familial, 12; ATFB12
|
OMIM:615377 |
Atrial Fibrillation, Familial, 13; ATFB13
|
OMIM:615378 |
Atrial Fibrillation, Familial, 14; ATFB14
|
OMIM:615770 |
Atrial Fibrillation, Familial, 15; ATFB15
|
OMIM:617280 |
Atrial Fibrillation, Familial, 18; ATFB18
|
OMIM:608583 |
Atrial Fibrillation, Familial, 1; ATFB1
|
OMIM:608988 |
Atrial Fibrillation, Familial, 2; ATFB2
|
OMIM:607554 |
Atrial Fibrillation, Familial, 3; ATFB3
|
OMIM:611493 |
Atrial Fibrillation, Familial, 4; ATFB4
|
OMIM:611494 |
Atrial Fibrillation, Familial, 5; ATFB5
|
OMIM:612201 |
Atrial Fibrillation, Familial, 6; ATFB6
|
OMIM:612240 |
Atrial Fibrillation, Familial, 7; ATFB7
|
OMIM:613055 |
Atrial Fibrillation, Familial, 8; ATFB8
|
OMIM:613980 |
Atrial Fibrillation, Familial, 9; ATFB9
|
OMIM:108800 |
Atrial Septal Defect 1; ASD1
|
OMIM:607941 |
Atrial Septal Defect 2; ASD2
|
OMIM:614089 |
Atrial Septal Defect 3; ASD3
|
OMIM:611363 |
Atrial Septal Defect 4; ASD4
|
OMIM:612794 |
Atrial Septal Defect 5; ASD5
|
OMIM:613087 |
Atrial Septal Defect 6; ASD6
|
OMIM:108900 |
Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects; ASD7
|
OMIM:614433 |
Atrial Septal Defect 8; ASD8
|
OMIM:614475 |
Atrial Septal Defect 9; ASD9
|
OMIM:603642 |
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects
|
OMIM:108770 |
Atrial Standstill 1; ATRST1
|
OMIM:615745 |
Atrial Standstill 2; ATRST2
|
OMIM:108950 |
Atrial Tachyarrhythmia with Short PR Interval
|
OMIM:209500 |
Atrichia with Papular Lesions; APL
|
OMIM:209600 |
Atrioventricular Dissociation
|
OMIM:614430 |
Atrioventricular Septal Defect 4; AVSD4
|
OMIM:614474 |
Atrioventricular Septal Defect 5; AVSD5
|
OMIM:606215 |
Atrioventricular Septal Defect; AVSD
|
OMIM:606217 |
Atrioventricular Septal Defect, Susceptibility to, 2; AVSD2
|
OMIM:600123 |
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects
|
OMIM:601341 |
Atrophia Maculosa Varioliformis Cutis, Familial; AMVC
|
OMIM:209700 |
Atrophoderma Vermiculata; AVA
|
OMIM:108990 |
Attached Cell Antigen 28.3.7; MIC7
|
OMIM:619957 |
Attention Deficit-Hyperactivity Disorder 8; ADHD8
|
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder; ADHD
|
OMIM:608903 |
Attention Deficit-Hyperactivity Disorder, Susceptibility to, 1
|
OMIM:608904 |
Attention Deficit-Hyperactivity Disorder, Susceptibility to, 2
|
OMIM:608905 |
Attention Deficit-Hyperactivity Disorder, Susceptibility to, 3
|
OMIM:608906 |
Attention Deficit-Hyperactivity Disorder, Susceptibility to, 4
|
OMIM:612311 |
Attention Deficit-Hyperactivity Disorder, Susceptibility to, 5
|
OMIM:612312 |
Attention Deficit-Hyperactivity Disorder, Susceptibility to, 6
|
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder, Susceptibility to, 7; ADHD7
|
OMIM:617717 |
Auditory Neuropathy and Optic Atrophy; ANOA
|
OMIM:609129 |
Auditory Neuropathy, Autosomal Dominant 1; AUNA1
|
OMIM:620384 |
Auditory Neuropathy, Autosomal Dominant 2; AUNA2
|
OMIM:619832 |
Auditory Neuropathy, Autosomal Dominant 3; AUNA3
|
OMIM:616580 |
Au-Kline Syndrome; AUKS
|
OMIM:607842 |
Aural Atresia, Congenital; CAA
|
OMIM:209770 |
Aural Atresia, Multiple Congenital Anomalies, and Impaired Intellectual Development
|
OMIM:602483 |
Auriculocondylar Syndrome 1; ARCND1
|
OMIM:614669 |
Auriculocondylar Syndrome 2A; ARCND2A
|
OMIM:620458 |
Auriculocondylar Syndrome 2B; ARCND2B
|
OMIM:615706 |
Auriculocondylar Syndrome 3; ARCND3
|
OMIM:620457 |
Auriculocondylar Syndrome 4; ARCND4
|
OMIM:109000 |
Auriculoosteodysplasia
|
OMIM:109050 |
Aurocephalosyndactyly
|
OMIM:620830 |
Auroneurodental Syndrome; ANDS
|
OMIM:209850 |
Autism
|
OMIM:611016 |
Autism, Susceptibility to, 10; AUTS10
|
OMIM:610836 |
Autism, Susceptibility to, 11; AUTS11
|
OMIM:610838 |
Autism, Susceptibility to, 12; AUTS12
|
OMIM:610908 |
Autism, Susceptibility to, 13; AUTS13
|
OMIM:612100 |
Autism, Susceptibility to, 15; AUTS15
|
OMIM:613410 |
Autism, Susceptibility to, 16; AUTS16
|
OMIM:613436 |
Autism, Susceptibility to, 17; AUTS17
|
OMIM:615091 |
Autism, Susceptibility to, 19; AUTS19
|
OMIM:618830 |
Autism, Susceptibility to, 20; AUTS20
|
OMIM:608049 |
Autism, Susceptibility to, 3; AUTS3
|
OMIM:609378 |
Autism, Susceptibility to, 6; AUTS6
|
OMIM:610676 |
Autism, Susceptibility to, 7; AUTS7
|
OMIM:607373 |
Autism, Susceptibility to, 8; AUTS8
|
OMIM:611015 |
Autism, Susceptibility to, 9; AUTS9
|
OMIM:300425 |
Autism, Susceptibility to, X-Linked 1; AUTSX1
|
OMIM:300495 |
Autism, Susceptibility to, X-Linked 2; AUTSX2
|
OMIM:300496 |
Autism, Susceptibility to, X-Linked 3; AUTSX3
|
OMIM:300830 |
Autism, Susceptibility to, X-Linked 4; AUTSX4
|
OMIM:300847 |
Autism, Susceptibility to, X-Linked 5; AUTSX5
|
OMIM:300872 |
Autism, Susceptibility to, X-Linked 6; AUTSX6
|
OMIM:109100 |
Autoimmune Disease
|
OMIM:615952 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1; ADMIO1
|
OMIM:617006 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2; ADMIO2
|
OMIM:620430 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3; ADMIO3
|
OMIM:613385 |
Autoimmune Disease, Multisystem, with Facial Dysmorphism; ADMFD
|
OMIM:607836 |
Autoimmune Disease, Susceptibility to, 1; AIS1
|
OMIM:608391 |
Autoimmune Disease, Susceptibility to, 2; AIS2
|
OMIM:608392 |
Autoimmune Disease, Susceptibility to, 3; AIS3
|
OMIM:609400 |
Autoimmune Disease, Susceptibility to, 4; AIS4
|
OMIM:613551 |
Autoimmune Disease, Susceptibility to, 6; AIS6
|
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome; ALPS
|
OMIM:603909 |
Autoimmune Lymphoproliferative Syndrome, Type IIA; ALPS2A
|
OMIM:615559 |
Autoimmune Lymphoproliferative Syndrome, Type III; ALPS3
|
OMIM:269200 |
Autoimmune Polyendocrine Syndrome, Type II; APS2
|
OMIM:240300 |
Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia; APS1
|
OMIM:608173 |
Autoimmune Thyroid Disease, Susceptibility to, 1
|
OMIM:608174 |
Autoimmune Thyroid Disease, Susceptibility to, 2
|
OMIM:608175 |
Autoimmune Thyroid Disease, Susceptibility to, 3; AITD3
|
OMIM:608176 |
Autoimmune Thyroid Disease, Susceptibility to, 4
|
OMIM:616414 |
Autoinflammation and Autoimmunity, Systemic, with Immune Dysregulation; AIAISD
|
OMIM:614878 |
Autoinflammation, Antibody Deficiency, and Immune Dysregulation;
|
OMIM:618999 |
Autoinflammation, Immune Dysregulation, and Eosinophilia; AIIDE
|
OMIM:617099 |
Autoinflammation, Panniculitis, and Dermatosis Syndrome; AIPDS
|
OMIM:617388 |
Autoinflammation with Arthritis and Dyskeratosis; AIADK
|
OMIM:620880 |
Autoinflammation with Arthritis and Vasculitis; AIARV
|
OMIM:620795 |
Autoinflammation with Episodic Fever and Immune Dysregulation; AIFID
|
OMIM:618852 |
Autoinflammation with Episodic Fever and Lymphadenopathy; AIEFL
|
OMIM:616050 |
Autoinflammation with Infantile Enterocolitis; AIFEC
|
OMIM:620296 |
Autoinflammation with Pulmonary and Cutaneous Vasculitis; AIPCV
|
OMIM:618287 |
Autoinflammatory Disease, Familial, Behcet-Like 3; AIFBL3
|
OMIM:301109 |
Autoinflammatory Disease, Multisystem, with Immune Dysregulation, X-Linked; ADMIDX
|
OMIM:620376 |
Autoinflammatory Disease, Systemic, with Vasculitis; SAIDV
|
OMIM:301081 |
Autoinflammatory Disease, Systemic, X-Linked; SAIDX
|
OMIM:619858 |
Autoinflammatory-Pancytopenia Syndrome; AIPCS
|
OMIM:616744 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1; AIFBL1
|
OMIM:619375 |
Autoinflammatory Syndrome, Familial, with or without Immunodeficiency; AISIMD
|
OMIM:301074 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2; AIFBL2
|
OMIM:601979 |
Autoinflammatory Syndrome with Cytopenia, Hyperzincemia, and Hypercalprotectinemia; AICZC
|
OMIM:109110 |
Autonomously Replicating Sequence 1
|
OMIM:608805 |
Avascular Necrosis of Femoral Head, Primary, 1; ANFH1
|
OMIM:617383 |
Avascular Necrosis of Femoral Head, Primary, 2; ANFH2
|
OMIM:109120 |
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
|
OMIM:180500 |
Axenfeld-Rieger Syndrome, Type 1; RIEG1
|
OMIM:601499 |
Axenfeld-Rieger Syndrome, Type 2; RIEG2
|
OMIM:602482 |
Axenfeld-Rieger Syndrome, Type 3; RIEG3
|
OMIM:109130 |
Axial Osteomalacia
|
OMIM:601088 |
Ayme-Gripp Syndrome; AYGRP
|
OMIM:301060 |
Azoospermia, Obstructive, with Nephrolithiasis; OAZON
|
OMIM:109160 |
Azotemia, Familial
|