Autosomal recessive inheritance

Symptom Information:

Symptom ID: HPO:0000007
Synonyms:
Autosomal recessive [HPO:0000007]
AUTOSOMAL RECESSIVE FORM [HPO:0000007]
Autosomal recessive predisposition [HPO:0000007]
Autosomal recessive inheritance [Orphanet:52120]
Inheritance: Autosomal recessive [OMIM:Inheritance: Autosomal recessive]
Quality:
Cross references:
Orphanet:52120 "Autosomal recessive inheritance" [Orphanet:52120]
OMIM: "Inheritance: Autosomal recessive" [OMIM:Inheritance: Autosomal recessive]
Is a (Direct Parents):
HPO         Mode of inheritance
Orphanet Cytogenetic abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Mode of inheritance(HPO:0000005)
       Autosomal recessive inheritance(HPO:0000007)
MedDRA:
Database Frequency: 2538 / 7739
Resource:

All diseases associated with this symptom:

2,4-@DIENOYL-CoA REDUCTASE 1, MITOCHONDRIAL (OMIM:222745)
2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet:79157)
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
3-hydroxy-3-methylglutaric aciduria (Orphanet:20)
3-hydroxyisobutyric aciduria (Orphanet:939)
3-phosphoglycerate dehydrogenase deficiency (Orphanet:79351)
3-phosphoserine phosphatase deficiency (Orphanet:79350)
3C syndrome (Orphanet:7)
3M syndrome (Orphanet:2616)
3MC SYNDROME 1 (OMIM:257920)
3MC SYNDROME 2 (OMIM:265050)
4-hydroxybutyric aciduria (Orphanet:22)
46,XX disorder of sex development - skeletal anomalies (Orphanet:2975)
46,XY SEX REVERSAL 7 (OMIM:233420)
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (Orphanet:752)
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (Orphanet:753)
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency (Orphanet:90796)
5-oxoprolinase deficiency (Orphanet:33572)
8q22.1 microdeletion syndrome (Orphanet:178303)
ABCD SYNDROME (OMIM:600501)
ACETOPHENETIDIN SENSITIVITY (OMIM:200300)
ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
ACETYLATION, SLOW (OMIM:243400)
ACHROMATOPSIA 3 (OMIM:262300)
ACHROMATOPSIA 4 (OMIM:613856)
ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE (OMIM:201310)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ADAMS-OLIVER SYNDROME 4 (OMIM:615297)
ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT (OMIM:202355)
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE (OMIM:613500)
AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE (OMIM:613501)
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE (OMIM:613502)
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
AGANGLIONOSIS, TOTAL INTESTINAL (OMIM:202550)
AGENESIS OF CEREBRAL WHITE MATTER (OMIM:202600)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS (OMIM:600908)
AICA-ribosiduria (Orphanet:250977)
AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
AICARDI-GOUTIERES SYNDROME 2 (OMIM:610181)
AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
AICARDI-GOUTIERES SYNDROME 6 (OMIM:615010)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:601549)
ALG1-CDG (Orphanet:79327)
ALG11-CDG (Orphanet:280071)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
ALOPECIA-MENTAL RETARDATION SYNDROME 2 (OMIM:610422)
ALOPECIA-MENTAL RETARDATION SYNDROME 3 (OMIM:613930)
ALPHA-2-DEFICIENT COLLAGEN DISEASE (OMIM:203760)
ALPHA-FETOPROTEIN (OMIM:104150)
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2 (OMIM:612529)
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 (OMIM:613211)
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 (OMIM:614832)
AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
AMELOGENESIS IMPERFECTA, TYPE IH (OMIM:616221)
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS (OMIM:204730)
AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF (OMIM:204800)
AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION (OMIM:204850)
AMYLOIDOSIS, CUTANEOUS BULLOUS (OMIM:204900)
AMYOTONIA CONGENITA (OMIM:205000)
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (OMIM:614373)
AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:602099)
AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES (OMIM:205250)
AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA (OMIM:205200)
ANALBUMINEMIA (OMIM:616000)
ANE syndrome (Orphanet:157954)
ANEMIA, AUTOIMMUNE HEMOLYTIC (OMIM:205700)
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF REDCELL MEMBRANE (OMIM:206300)
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRINMETABOLISM (OMIM:206400)
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE (OMIM:206000)
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT (OMIM:206570)
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS (OMIM:206600)
ANOSMIA FOR ISOBUTYRIC ACID (OMIM:207000)
ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO (OMIM:207300)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
APNEA, CENTRAL SLEEP (OMIM:207720)
ARACHNOID CYSTS, INTRACRANIAL (OMIM:207790)
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
ARTERIOSCLEROSIS, SEVERE JUVENILE (OMIM:208060)
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES (OMIM:208080)
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES (OMIM:208081)
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
ASTHMA, SHORT STATURE, AND ELEVATED IgA (OMIM:208600)
ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA (OMIM:208700)
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY (OMIM:208750)
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION (OMIM:270500)
ATAXIA-MICROCEPHALY-CATARACT SYNDROME (OMIM:208870)
ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH (OMIM:208910)
ATHROMBIA, ESSENTIAL (OMIM:209050)
ATONIC-ASTATIC SYNDROME OF FOERSTER (OMIM:209100)
ATRIOVENTRICULAR DISSOCIATION (OMIM:209600)
AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
AUTISM, SUSCEPTIBILITY TO, 5 (OMIM:606053)
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Abetalipoproteinemia (Orphanet:14)
Ablepharon macrostomia syndrome (Orphanet:920)
Absence deformity of leg - cataract (Orphanet:2310)
Absent thumb - short stature - immunodeficiency (Orphanet:2951)
Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement (Orphanet:90301)
Acatalasemia (Orphanet:926)
Achalasia - microcephaly (Orphanet:929)
Acheiropodia (Orphanet:931)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1B (Orphanet:93298)
Achromatopsia (Orphanet:49382)
Acid phosphatase deficiency (Orphanet:35121)
Ackerman syndrome (Orphanet:2561)
Acral peeling skin syndrome (Orphanet:263534)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocallosal syndrome (Orphanet:36)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrocephalopolydactyly (Orphanet:221054)
Acrocraniofacial dysostosis (Orphanet:949)
Acrodermatitis enteropathica, zinc deficiency type (Orphanet:37)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Action myoclonus - renal failure syndrome (Orphanet:163696)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins (Orphanet:217371)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Acute necrotizing encephalopathy of childhood (Orphanet:263524)
Adams-Oliver syndrome (Orphanet:974)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adenine phosphoribosyltransferase deficiency (Orphanet:976)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adrenocortical carcinoma (Orphanet:1501)
Adult hypophosphatasia (Orphanet:247676)
Adult-onset autosomal recessive cerebellar ataxia (Orphanet:284289)
Adult-onset autosomal recessive sideroblastic anemia (Orphanet:255132)
Adult-onset dystonia-parkinsonism (Orphanet:199351)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Aicardi-Goutières syndrome (Orphanet:51)
Alar cartilages hypoplasia - coloboma - telecanthus (Orphanet:2007)
Alkaptonuria (Orphanet:56)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpha-1-antitrypsin deficiency (Orphanet:60)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 2 (Orphanet:79280)
Alpha-mannosidosis (Orphanet:61)
Alveolar rhabdomyosarcoma (Orphanet:99756)
Amaurosis - hypertrichosis (Orphanet:1021)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Amelogenesis imperfecta - nephrocalcinosis (Orphanet:1031)
Amelogenesis imperfecta and gingival hyperplasia syndrome (Orphanet:171836)
Amish infantile epilepsy syndrome (Orphanet:171714)
Amish lethal microcephaly (Orphanet:99742)
Amyotrophic lateral sclerosis (Orphanet:803)
Anauxetic dysplasia (Orphanet:93347)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Anodontia (Orphanet:99797)
Anonychia congenita totalis (Orphanet:94150)
Anophthalmia plus syndrome (Orphanet:1104)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Anti-glomerular basement membrane disease (Orphanet:375)
Antley-Bixler syndrome (Orphanet:83)
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis (Orphanet:1112)
Aplasia cutis - myopia (Orphanet:1117)
Aplasia cutis congenita - intestinal lymphangiectasia (Orphanet:1116)
Apparent mineralocorticoid excess (Orphanet:320)
Aprosencephaly cerebellar dysgenesis (Orphanet:1126)
Arginine:glycine amidinotransferase deficiency (Orphanet:35704)
Aromatase deficiency (Orphanet:91)
Aromatic L-amino acid decarboxylase deficiency (Orphanet:35708)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Arthrogryposis-like syndrome (Orphanet:1149)
Aspartylglucosaminuria (Orphanet:93)
Ataxia - hypogonadism - choroidal dystrophy (Orphanet:1180)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia - tapetoretinal degeneration (Orphanet:1178)
Ataxia with vitamin E deficiency (Orphanet:96)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Ataxia-telangiectasia (Orphanet:100)
Ataxia-telangiectasia-like disorder (Orphanet:251347)
Atelosteogenesis type II (Orphanet:56304)
Atresia of small intestine (Orphanet:1201)
Atrichia with papular lesions (Orphanet:86819)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Atrophoderma vermiculata (Orphanet:79100)
Atypical dentin dysplasia due to SMOC2 deficiency (Orphanet:314721)
Atypical hemolytic uremic syndrome (Orphanet:2134)
Atypical hemolytic uremic syndrome with MCP/CD46 anomaly (Orphanet:93576)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autoimmune lymphoproliferative syndrome with recurrent infections (Orphanet:275517)
Autoimmune polyendocrinopathy type 1 (Orphanet:3453)
Autosomal agammaglobulinemia (Orphanet:33110)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant Charcot-Marie-Tooth disease type 2K (Orphanet:99944)
Autosomal dominant Charcot-Marie-Tooth disease type 2P (Orphanet:300319)
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (Orphanet:276580)
Autosomal dominant hyperinsulinism due to SUR1 deficiency (Orphanet:276575)
Autosomal dominant limb-girdle muscular dystrophy type 1C (Orphanet:265)
Autosomal dominant severe congenital neutropenia (Orphanet:486)
Autosomal recessive Alport syndrome (Orphanet:88919)
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (Orphanet:101097)
Autosomal recessive Kenny-Caffey syndrome (Orphanet:93324)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Autosomal recessive amelia (Orphanet:1027)
Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet:139485)
Autosomal recessive axonal neuropathy with neuromyotonia (Orphanet:324442)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive cerebellar ataxia - blindness - deafness (Orphanet:95433)
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit (Orphanet:284282)
Autosomal recessive cerebellar ataxia - psychomotor retardation (Orphanet:284271)
Autosomal recessive cerebellar ataxia - saccadic intrusion (Orphanet:95434)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive childhood-onset cortical cataract (Orphanet:217046)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive cutis laxa type 1 (Orphanet:90349)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive distal osteolysis syndrome (Orphanet:2776)
Autosomal recessive distal renal tubular acidosis with deafness (Orphanet:93611)
Autosomal recessive distal renal tubular acidosis without deafness (Orphanet:93609)
Autosomal recessive dopa-responsive dystonia (Orphanet:101150)
Autosomal recessive early-onset inflammatory bowel disease (Orphanet:238569)
Autosomal recessive epidermolysis bullosa simplex (Orphanet:89838)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive hyper-IgE syndrome (Orphanet:169446)
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency (Orphanet:331226)
Autosomal recessive hypohidrotic ectodermal dysplasia (Orphanet:248)
Autosomal recessive hypophosphatemic rickets (Orphanet:289176)
Autosomal recessive infantile hypercalcemia (Orphanet:300547)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (Orphanet:217055)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (Orphanet:254334)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (Orphanet:369867)
Autosomal recessive limb girdle muscular dystrophy type 2A (Orphanet:267)
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency (Orphanet:363543)
Autosomal recessive limb-girdle muscular dystrophy type 2B (Orphanet:268)
Autosomal recessive limb-girdle muscular dystrophy type 2G (Orphanet:34514)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
Autosomal recessive limb-girdle muscular dystrophy type 2I (Orphanet:34515)
Autosomal recessive limb-girdle muscular dystrophy type 2J (Orphanet:140922)
Autosomal recessive limb-girdle muscular dystrophy type 2K (Orphanet:86812)
Autosomal recessive limb-girdle muscular dystrophy type 2L (Orphanet:206549)
Autosomal recessive limb-girdle muscular dystrophy type 2N (Orphanet:206559)
Autosomal recessive limb-girdle muscular dystrophy type 2O (Orphanet:206564)
Autosomal recessive limb-girdle muscular dystrophy type 2P (Orphanet:280333)
Autosomal recessive limb-girdle muscular dystrophy type 2Q (Orphanet:254361)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive lower motor neuron disease with childhood onset (Orphanet:206580)
Autosomal recessive lymphoproliferative disease (Orphanet:238505)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive medullary cystic kidney disease (Orphanet:655)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive nail dysplasia (Orphanet:280654)
Autosomal recessive nonsyndromic intellectual deficit (Orphanet:88616)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive optic atrophy, OPA6 type (Orphanet:99012)
Autosomal recessive optic atrophy, OPA7 type (Orphanet:227976)
Autosomal recessive palmoplantar keratoderma and congenital alopecia (Orphanet:1366)
Autosomal recessive polycystic kidney disease (Orphanet:731)
Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (Orphanet:30924)
Autosomal recessive primary microcephaly (Orphanet:2512)
Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886)
Autosomal recessive spastic ataxia - optic atrophy - dysarthria (Orphanet:254343)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (Orphanet:98)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
Autosomal recessive systemic lupus erythematosus (Orphanet:300345)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
B4GALT1-CDG (Orphanet:79332)
BARTTER SYNDROME, ANTENATAL, TYPE 1 (OMIM:601678)
BERNARD-SOULIER SYNDROME (OMIM:231200)
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION (OMIM:210050)
BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF (OMIM:210100)
BIFID NOSE, AUTOSOMAL RECESSIVE (OMIM:210400)
BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
BLOOD GROUP, VEL SYSTEM (OMIM:615264)
BNAR syndrome (Orphanet:217266)
BONE MARROW FAILURE SYNDROME 2 (OMIM:615715)
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS (OMIM:211200)
BRACHYDACTYLY, TYPE A1, C (OMIM:615072)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY (OMIM:211369)
BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
BRUCK SYNDROME 2 (OMIM:609220)
BUTYRYLCHOLINESTERASE (OMIM:177400)
Baller-Gerold syndrome (Orphanet:1225)
Bamforth syndrome (Orphanet:1226)
Baraitser-Winter syndrome (Orphanet:2995)
Bartsocas-Papas syndrome (Orphanet:1234)
Bartter syndrome (Orphanet:112)
Bathing suit ichthyosis (Orphanet:100976)
Beemer-Ertbruggen syndrome (Orphanet:1237)
Benign familial neonatal seizures (Orphanet:1949)
Benign recurrent intrahepatic cholestasis (Orphanet:65682)
Benign recurrent intrahepatic cholestasis type 2 (Orphanet:99961)
Beta-mannosidosis (Orphanet:118)
Beta-ureidopropionase deficiency (Orphanet:65287)
Bethlem myopathy (Orphanet:610)
Biemond syndrome type 2 (Orphanet:141333)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral frontal polymicrogyria (Orphanet:208444)
Bilateral frontoparietal polymicrogyria (Orphanet:101070)
Bilateral generalized polymicrogyria (Orphanet:208447)
Bilateral microtia - deafness - cleft palate (Orphanet:140963)
Bilateral renal agenesis (Orphanet:1848)
Biotinidase deficiency (Orphanet:79241)
Bird headed-dwarfism, Montreal type (Orphanet:2617)
Björnstad syndrome (Orphanet:123)
Bleeding diathesis due to glycoprotein VI deficiency (Orphanet:98885)
Blepharophimosis - ptosis - esotropia - syndactyly - short stature (Orphanet:2057)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency (Orphanet:91135)
Bohring-Opitz syndrome (Orphanet:97297)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
Bothnia retinal dystrophy (Orphanet:85128)
Bowen-Conradi syndrome (Orphanet:1270)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
Brachyolmia type 1, Toledo type (Orphanet:93303)
Brachyolmia, Maroteaux type (Orphanet:93302)
Brachyolmia-amelogenesis imperfecta syndrome (Orphanet:2899)
Braddock syndrome (Orphanet:52047)
Brain calcification, Rajab type (Orphanet:178506)
Brain demyelination due to methionine adenosyltransferase deficiency (Orphanet:168598)
Branchio-skeleto-genital syndrome (Orphanet:1299)
Brittle cornea syndrome (Orphanet:90354)
Brody myopathy (Orphanet:53347)
Bruck syndrome (Orphanet:2771)
Buerger disease (Orphanet:36258)
C syndrome (Orphanet:1308)
C1q DEFICIENCY (OMIM:613652)
CACH syndrome (Orphanet:135)
CAMOS syndrome (Orphanet:83472)
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA (OMIM:211930)
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
CAMPTOMELIC SYNDROME, LONG-LIMB TYPE (OMIM:211990)
CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
CANDIDIASIS, FAMILIAL, 4 (OMIM:613108)
CANDIDIASIS, FAMILIAL, 5 (OMIM:613953)
CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
CARBIMAZOLE SENSITIVITY (OMIM:212060)
CARBOXYPEPTIDASE N DEFICIENCY (OMIM:212070)
CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA (OMIM:212090)
CARDIAC VALVULAR DEFECT, DEVELOPMENTAL (OMIM:212093)
CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS (OMIM:212100)
CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH (OMIM:212130)
CARNITINE DEFICIENCY, MYOPATHIC (OMIM:212160)
CARPENTER SYNDROME 2 (OMIM:614976)
CATARACT 16, MULTIPLE TYPES (OMIM:613763)
CATARACT 17, MULTIPLE TYPES (OMIM:611544)
CATARACT 18 (OMIM:610019)
CATARACT 19 (OMIM:615277)
CATARACT 22, MULTIPLE TYPES (OMIM:609741)
CATARACT 35 (OMIM:609376)
CATARACT 36 (OMIM:613887)
CATARACT 38 (OMIM:614691)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME (OMIM:212540)
CATECHOL-O-METHYLTRANSFERASE (OMIM:116790)
CATSPER1-related non syndromic male infertility (Orphanet:276234)
CD3 ANTIGEN, GAMMA SUBUNIT (OMIM:186740)
CEDNIK syndrome (Orphanet:66631)
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
CEPHALIN LIPIDOSIS (OMIM:212800)
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS (OMIM:212850)
CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA (OMIM:212890)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3 (OMIM:613227)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4 (OMIM:615268)
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZSYNDROME AND MECKEL SYNDROME (OMIM:213010)
CEREBELLOPARENCHYMAL DISORDER II (OMIM:213100)
CEREBELLOPARENCHYMAL DISORDER V (OMIM:213400)
CEREBRAL ANGIOPATHY, DYSPHORIC (OMIM:213500)
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE (OMIM:605388)
CEREBROCORTICAL DEGENERATION OF INFANCY (OMIM:213950)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION (OMIM:601389)
CERVICAL VERTEBRAE, AGENESIS OF (OMIM:214290)
CHANDS (OMIM:214350)
CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM (OMIM:118301)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE (OMIM:214980)
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
CHOLESTEROL PNEUMONIA (OMIM:215030)
CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS (OMIM:215050)
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES (OMIM:609441)
CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME (OMIM:215250)
CHOREA, BENIGN FAMILIAL (OMIM:215450)
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION (OMIM:215480)
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY (OMIM:215510)
CHST3-related skeletal dysplasia (Orphanet:263463)
CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES (OMIM:242670)
CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA (OMIM:242680)
CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES (OMIM:215520)
CILIARY DYSKINESIA, PRIMARY, 1 (OMIM:244400)
CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
CILIARY DYSKINESIA, PRIMARY, 16 (OMIM:614017)
CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
CILIARY DYSKINESIA, PRIMARY, 18 (OMIM:614874)
CILIARY DYSKINESIA, PRIMARY, 19 (OMIM:614935)
CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
CILIARY DYSKINESIA, PRIMARY, 20 (OMIM:615067)
CILIARY DYSKINESIA, PRIMARY, 21 (OMIM:615294)
CILIARY DYSKINESIA, PRIMARY, 22 (OMIM:615444)
CILIARY DYSKINESIA, PRIMARY, 23 (OMIM:615451)
CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
CILIARY DYSKINESIA, PRIMARY, 27 (OMIM:615504)
CILIARY DYSKINESIA, PRIMARY, 28 (OMIM:615505)
CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
CIRCUMVALLATE PLACENTA SYNDROME (OMIM:215550)
CITRULLINE TRANSPORT DEFECT (OMIM:215720)
CLN1 disease (Orphanet:228329)
CLN11 disease (Orphanet:314629)
CLN13 disease (Orphanet:352709)
CLN3 disease (Orphanet:228346)
CLN4A disease (Orphanet:228340)
CLN5 disease (Orphanet:228360)
CLN6 disease (Orphanet:228363)
CLN7 disease (Orphanet:228366)
CLN8 disease (Orphanet:228354)
CLN9 disease (Orphanet:228357)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
COCOON SYNDROME (OMIM:613630)
CODAS syndrome (Orphanet:1458)
COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
COFS syndrome (Orphanet:1466)
COG1-CDG (Orphanet:263508)
COG4-CDG (Orphanet:263501)
COG5-CDG (Orphanet:263487)
COG8-CDG (Orphanet:95428)
COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT (OMIM:216920)
COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
COMPLEMENT COMPONENT 4A DEFICIENCY (OMIM:614380)
COMPLEMENT COMPONENT 6 (OMIM:217050)
COMPLEMENT COMPONENT 6 DEFICIENCY (OMIM:612446)
COMPLEMENT COMPONENT 7 DEFICIENCY (OMIM:610102)
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I (OMIM:613790)
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II (OMIM:613789)
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
COMPLEMENT FACTOR I (OMIM:217030)
CONE DYSTROPHY 4 (OMIM:613093)
CONE-ROD DYSTROPHY 10 (OMIM:610283)
CONE-ROD DYSTROPHY 13 (OMIM:608194)
CONE-ROD DYSTROPHY 15 (OMIM:613660)
CONE-ROD DYSTROPHY 16 (OMIM:614500)
CONE-ROD DYSTROPHY 18 (OMIM:615374)
CONE-ROD DYSTROPHY 8 (OMIM:605549)
CONE-ROD DYSTROPHY 9 (OMIM:612775)
CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx (OMIM:212067)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET (OMIM:217200)
CORNEA PLANA 2 (OMIM:217300)
CORNEAL DEGENERATION, BAND-SHAPED SPHEROID (OMIM:217520)
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES (OMIM:269400)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
CORTICOTROPIN-RELEASING HORMONE (OMIM:122560)
CRAMPS, FAMILIAL ADOLESCENT (OMIM:218050)
CRANIAL NERVES, CONGENITAL PARESIS OF (OMIM:218100)
CRANIODIAPHYSEAL DYSPLASIA (OMIM:218300)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS (OMIM:218530)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (OMIM:218650)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
CURVED NAIL OF FOURTH TOE (OMIM:219070)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
CUTIS VERTICIS GYRATA AND MENTAL RETARDATION (OMIM:219300)
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS (OMIM:605685)
CYANOSIS AND HEPATIC DISEASE (OMIM:219400)
CYSTEINE PEPTIDURIA (OMIM:219550)
CYSTIC DISEASE OF LUNG (OMIM:219600)
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19 (OMIM:124020)
Campomelia, Cumming type (Orphanet:1318)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Canavan disease (Orphanet:141)
Cap myopathy (Orphanet:171881)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Cardiomyopathy-hypotonia-lactic acidosis syndrome (Orphanet:91130)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Carnitine palmitoyl transferase II deficiency (Orphanet:157)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet:228305)
Carnosinemia (Orphanet:1361)
Carpenter syndrome (Orphanet:65759)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract - ataxia - deafness (Orphanet:1368)
Cataract - hypertrichosis - intellectual deficit (Orphanet:1375)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Cataract, Hutterite type (Orphanet:98987)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Cenani-Lenz syndrome (Orphanet:3258)
Central areolar choroidal dystrophy (Orphanet:75377)
Central cloudy dystrophy of Francois (Orphanet:98972)
Cerebellar ataxia - ectodermal dysplasia (Orphanet:1174)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebellar ataxia, Cayman type (Orphanet:94122)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebrotendinous xanthomatosis (Orphanet:909)
Cervical hypertrichosis - peripheral neuropathy (Orphanet:2218)
Cervicofacial lymphatic malformation (Orphanet:137923)
Channelopathy-associated congenital insensitivity to pain (Orphanet:88642)
Charcot-Marie-Tooth disease - deafness - intellectual deficit (Orphanet:90103)
Charcot-Marie-Tooth disease type 1F (Orphanet:101085)
Charcot-Marie-Tooth disease type 2B1 (Orphanet:98856)
Charcot-Marie-Tooth disease type 2B2 (Orphanet:101101)
Charcot-Marie-Tooth disease type 2H (Orphanet:101102)
Charcot-Marie-Tooth disease type 4A (Orphanet:99948)
Charcot-Marie-Tooth disease type 4B1 (Orphanet:99955)
Charcot-Marie-Tooth disease type 4B2 (Orphanet:99956)
Charcot-Marie-Tooth disease type 4B3 (Orphanet:363981)
Charcot-Marie-Tooth disease type 4C (Orphanet:99949)
Charcot-Marie-Tooth disease type 4D (Orphanet:99950)
Charcot-Marie-Tooth disease type 4E (Orphanet:99951)
Charcot-Marie-Tooth disease type 4F (Orphanet:99952)
Charcot-Marie-Tooth disease type 4G (Orphanet:99953)
Charcot-Marie-Tooth disease type 4H (Orphanet:99954)
Charcot-Marie-Tooth disease type 4J (Orphanet:139515)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955)
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (Orphanet:284324)
Childhood-onset hypophosphatasia (Orphanet:247667)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Cholestasis - lymphedema (Orphanet:1414)
Chondrodysplasia with joint dislocations, gPAPP type (Orphanet:280586)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Chondrosarcoma (Orphanet:55880)
Choreoacanthocytosis (Orphanet:2388)
Choroid plexus carcinoma (Orphanet:251899)
Chronic granulomatous disease (Orphanet:379)
Chronic intestinal pseudo-obstruction (Orphanet:2978)
Chudley-McCullough syndrome (Orphanet:314597)
Chuvash erythrocytosis (Orphanet:238557)
Chylomicron retention disease (Orphanet:71)
Chylous ascites (Orphanet:1160)
Chédiak-Higashi syndrome (Orphanet:167)
Circumscribed cutaneous aplasia of the vertex (Orphanet:1114)
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (Orphanet:309854)
Classic Bartter syndrome (Orphanet:93605)
Classic Mayer-Rokitansky-Küster-Hauser syndrome (Orphanet:247775)
Classic galactosemia (Orphanet:79239)
Classic multiminicore myopathy (Orphanet:324604)
Classical homocystinuria (Orphanet:394)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Cleft palate - stapes fixation - oligodontia (Orphanet:2010)
Coats plus syndrome (Orphanet:313838)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Cockayne syndrome (Orphanet:191)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cold-induced sweating syndrome (Orphanet:157820)
Colobomatous microphthalmia (Orphanet:98938)
Combined deficiency of factor V and factor VIII (Orphanet:35909)
Combined immunodeficiency due to CRAC channel dysfunction (Orphanet:169090)
Combined immunodeficiency due to STIM1 deficiency (Orphanet:317430)
Combined immunodeficiency due to STK4 deficiency (Orphanet:314689)
Combined immunodeficiency due to ZAP70 deficiency (Orphanet:911)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
Combined immunodeficiency with skin granulomas (Orphanet:157949)
Combined malonic and methylmalonic acidemia (Orphanet:289504)
Complement component 3 deficiency (Orphanet:280133)
Complete hydatidiform mole (Orphanet:254688)
Conductive deafness - ptosis - skeletal anomalies (Orphanet:3236)
Cone dystrophy with supernormal rod response (Orphanet:209932)
Congenital adrenal hyperplasia (Orphanet:418)
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (Orphanet:90795)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (Orphanet:90793)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (Orphanet:95699)
Congenital alpha2 antiplasmin deficiency (Orphanet:79)
Congenital alveolar capillary dysplasia (Orphanet:210122)
Congenital amegakaryocytic thrombocytopenia (Orphanet:3319)
Congenital atransferrinemia (Orphanet:1195)
Congenital bilateral absence of vas deferens (Orphanet:48)
Congenital bile acid synthesis defect type 1 (Orphanet:79301)
Congenital bile acid synthesis defect type 2 (Orphanet:79303)
Congenital bile acid synthesis defect type 3 (Orphanet:79302)
Congenital bile acid synthesis defect type 4 (Orphanet:79095)
Congenital blindness due to retinal non-attachment (Orphanet:300337)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital cataract - ichthyosis (Orphanet:1376)
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay (Orphanet:330054)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital chloride diarrhea (Orphanet:53689)
Congenital cornea plana (Orphanet:53691)
Congenital dyserythropoietic anemia type I (Orphanet:98869)
Congenital dyserythropoietic anemia type II (Orphanet:98873)
Congenital enteropathy due to enteropeptidase deficiency (Orphanet:168601)
Congenital erythropoietic porphyria (Orphanet:79277)
Congenital factor II deficiency (Orphanet:325)
Congenital factor V deficiency (Orphanet:326)
Congenital factor VII deficiency (Orphanet:327)
Congenital factor X deficiency (Orphanet:328)
Congenital factor XI deficiency (Orphanet:329)
Congenital factor XII deficiency (Orphanet:330)
Congenital factor XIII deficiency (Orphanet:331)
Congenital glaucoma (Orphanet:98976)
Congenital hereditary endothelial dystrophy type II (Orphanet:293603)
Congenital high-molecular-weight kininogen deficiency (Orphanet:483)
Congenital hydrocephalus (Orphanet:2185)
Congenital ichthyosis - intellectual deficit - spastic quadriplegia (Orphanet:352333)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital intrinsic factor deficiency (Orphanet:332)
Congenital isolated ACTH deficiency (Orphanet:199296)
Congenital lactase deficiency (Orphanet:53690)
Congenital lethal erythroderma (Orphanet:1954)
Congenital lethal myopathy, Compton-North type (Orphanet:210163)
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (Orphanet:83620)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy type 1B (Orphanet:98893)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet:34520)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Congenital muscular dystrophy, Ullrich type (Orphanet:75840)
Congenital myasthenic syndromes (Orphanet:590)
Congenital myasthenic syndromes with glycosylation defect (Orphanet:353327)
Congenital nephrotic syndrome, Finnish type (Orphanet:839)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital plasminogen activator inhibitor type 1 deficiency (Orphanet:465)
Congenital prekallikrein deficiency (Orphanet:749)
Congenital primary aphakia (Orphanet:83461)
Congenital pulmonary lymphangiectasia (Orphanet:2414)
Congenital sodium diarrhea (Orphanet:103908)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Conotruncal heart malformations (Orphanet:2445)
Constitutional megaloblastic anemia with severe neurologic disease (Orphanet:319651)
Constitutional mismatch repair deficiency syndrome (Orphanet:252202)
Cooper-Jabs syndrome (Orphanet:1488)
Corneal dystrophy - perceptive deafness (Orphanet:1490)
Corneal-cerebellar syndrome (Orphanet:3177)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Corticosteroid-binding globulin deficiency (Orphanet:199247)
Cranio-osteoarthropathy (Orphanet:1525)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 2 (OMIM:613610)
Cranioectodermal dysplasia 3 (OMIM:614099)
Cranioectodermal dysplasia 4 (OMIM:614378)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniometadiaphyseal dysplasia, wormian bone type (Orphanet:85184)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Craniosynostosis - intracranial calcifications (Orphanet:52054)
Craniosynostosis and dental anomalies (Orphanet:284149)
Craniotelencephalic dysplasia (Orphanet:1528)
Crigler-Najjar syndrome (Orphanet:205)
Crigler-Najjar syndrome type 2 (Orphanet:79235)
Cryptosporidiosis - chronic cholangitis - liver disease (Orphanet:357329)
Cutaneous photosensitivity - lethal colitis (Orphanet:2881)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet:221145)
Cutis marmorata telangiectatica congenita (Orphanet:1556)
Cystathioninuria (Orphanet:212)
Cystic fibrosis (Orphanet:586)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
Cystic leukoencephalopathy without megalencephaly (Orphanet:85136)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
D-glyceric aciduria (Orphanet:941)
DDOST-CDG (Orphanet:300536)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
DEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
DEAFNESS, AUTOSOMAL RECESSIVE 12 (OMIM:601386)
DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
DEAFNESS, AUTOSOMAL RECESSIVE 1B (OMIM:612645)
DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
DEAFNESS, AUTOSOMAL RECESSIVE 21 (OMIM:603629)
DEAFNESS, AUTOSOMAL RECESSIVE 22 (OMIM:607039)
DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533)
DEAFNESS, AUTOSOMAL RECESSIVE 24 (OMIM:611022)
DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
DEAFNESS, AUTOSOMAL RECESSIVE 27 (OMIM:605818)
DEAFNESS, AUTOSOMAL RECESSIVE 28 (OMIM:609823)
DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
DEAFNESS, AUTOSOMAL RECESSIVE 3 (OMIM:600316)
DEAFNESS, AUTOSOMAL RECESSIVE 30 (OMIM:607101)
DEAFNESS, AUTOSOMAL RECESSIVE 31 (OMIM:607084)
DEAFNESS, AUTOSOMAL RECESSIVE 32 (OMIM:608653)
DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
DEAFNESS, AUTOSOMAL RECESSIVE 38 (OMIM:608219)
DEAFNESS, AUTOSOMAL RECESSIVE 39 (OMIM:608265)
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
DEAFNESS, AUTOSOMAL RECESSIVE 40 (OMIM:608264)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (OMIM:609646)
DEAFNESS, AUTOSOMAL RECESSIVE 44 (OMIM:610154)
DEAFNESS, AUTOSOMAL RECESSIVE 46 (OMIM:609647)
DEAFNESS, AUTOSOMAL RECESSIVE 48 (OMIM:609439)
DEAFNESS, AUTOSOMAL RECESSIVE 49 (OMIM:610153)
DEAFNESS, AUTOSOMAL RECESSIVE 5 (OMIM:600792)
DEAFNESS, AUTOSOMAL RECESSIVE 51 (OMIM:609941)
DEAFNESS, AUTOSOMAL RECESSIVE 53 (OMIM:609706)
DEAFNESS, AUTOSOMAL RECESSIVE 59 (OMIM:610220)
DEAFNESS, AUTOSOMAL RECESSIVE 6 (OMIM:600971)
DEAFNESS, AUTOSOMAL RECESSIVE 61 (OMIM:613865)
DEAFNESS, AUTOSOMAL RECESSIVE 62 (OMIM:610143)
DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
DEAFNESS, AUTOSOMAL RECESSIVE 65 (OMIM:610248)
DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
DEAFNESS, AUTOSOMAL RECESSIVE 68 (OMIM:610419)
DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (OMIM:613079)
DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
DEAFNESS, AUTOSOMAL RECESSIVE 96 (OMIM:614414)
DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR (OMIM:221300)
DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY (OMIM:220300)
DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM (OMIM:220900)
DEAFNESS, NEURAL, CONGENITAL MODERATE (OMIM:221500)
DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS (OMIM:221700)
DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH (OMIM:221780)
DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF (OMIM:221760)
DERMATOLEUKODYSTROPHY (OMIM:221790)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
DIAMINOPENTANURIA (OMIM:222350)
DISORGANIZATION, MOUSE, HOMOLOG OF (OMIM:223200)
DISSEMINATED SCLEROSIS WITH NARCOLEPSY (OMIM:223300)
DIVERTICULOSIS, SMALL-INTESTINAL (OMIM:223320)
DNA DAMAGE-BINDING PROTEIN 1 (OMIM:600045)
DOHLE BODIES AND LEUKEMIA (OMIM:223350)
DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF (OMIM:223380)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
DRUG METABOLISM, POOR, CYP2C19-RELATEDMEPHENYTOIN, POOR METABOLISM OF, INCLUDED (OMIM:609535)
DRUG METABOLISM, POOR, CYP2D6-RELATEDDRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED (OMIM:608902)
DWARFISM, LEVI TYPE (OMIM:127100)
DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION (OMIM:223550)
DYSAUTONOMIA-LIKE DISORDER (OMIM:224000)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (OMIM:613989)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 (OMIM:224230)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 (OMIM:613987)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 (OMIM:613988)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 (OMIM:615190)
DYSMYELINATION WITH JAUNDICE (OMIM:224250)
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (OMIM:612406)
DYSTONIA WITH CEREBELLAR ATROPHY (OMIM:611694)
DYSTONIA WITH RINGBINDEN (OMIM:224550)
Dahlberg-Borer-Newcomer syndrome (Orphanet:1563)
Dandy-Walker malformation - postaxial polydactyly (Orphanet:1566)
De Barsy syndrome (Orphanet:2962)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Deafness - small bowel diverticulosis - neuropathy (Orphanet:3217)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Deafness - encephaloneuropathy - obesity - valvulopathy (Orphanet:254898)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Deafness - oligodontia (Orphanet:3230)
Deafness - vitiligo - achalasia (Orphanet:3239)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Deafness-infertility syndrome (Orphanet:94064)
Dejerine-Sottas syndrome (Orphanet:64748)
Dermatoosteolysis, Kirghizian type (Orphanet:1657)
Dermochondrocorneal dystrophy (Orphanet:79149)
Desbuquois syndrome (Orphanet:1425)
Desmosterolosis (Orphanet:35107)
Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Diaphanospondylodysostosis (Orphanet:66637)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Diarrhea-vomiting due to trehalase deficiency (Orphanet:103909)
Diastrophic dwarfism (Orphanet:628)
Dicarboxylic aminoaciduria (Orphanet:2195)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dihydropyrimidinuria (Orphanet:38874)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet:2229)
Dimethylglycine dehydrogenase deficiency (Orphanet:243343)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal hereditary motor neuropathy, Jerash type (Orphanet:139552)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal myopathy with anterior tibial onset (Orphanet:178400)
Distal myopathy, Nonaka type (Orphanet:602)
Distal myopathy, Welander type (Orphanet:603)
Distal renal tubular acidosis with anemia (Orphanet:93610)
Distal spinal muscular atrophy type 3 (Orphanet:139547)
Donnai-Barrow syndrome (Orphanet:2143)
Dopamine beta-hydroxylase deficiency (Orphanet:230)
Dorfman-Chanarin disease (Orphanet:98907)
Dubin-Johnson syndrome (Orphanet:234)
Dubowitz syndrome (Orphanet:235)
Duodenal atresia (Orphanet:1203)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dysequilibrium syndrome (Orphanet:1766)
Dysosteosclerosis (Orphanet:1782)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
Dystonia 16 (Orphanet:210571)
Dystrophic epidermolysis bullosa pruriginosa (Orphanet:89843)
EAST syndrome (Orphanet:199343)
ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE (OMIM:614927)
ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE (OMIM:614928)
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY (OMIM:600906)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
EEM syndrome (Orphanet:1897)
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE (OMIM:608763)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (OMIM:615539)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
ELLIPTOCYTOSIS, ATYPICAL (OMIM:225450)
ENCEPHALOMALACIA, MULTILOCULAR (OMIM:225700)
ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA (OMIM:226100)
ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 (OMIM:131200)
ENTEROCOLITIS (OMIM:226150)
ENTEROPATHY, PROTEIN-LOSING (OMIM:226300)
EOSINOPHIL PEROXIDASE DEFICIENCY (OMIM:261500)
EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA (OMIM:226500)
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 (OMIM:615425)
EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA (OMIM:226735)
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE (OMIM:615028)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 (OMIM:615400)
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3 (OMIM:608762)
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7 (OMIM:604827)
EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION (OMIM:226800)
EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
EPILEPSY-TELANGIECTASIA (OMIM:226850)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 (OMIM:615006)
EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS (OMIM:226950)
EPIPHYSEAL DYSPLASIA, BAUMANN TYPE (OMIM:610797)
ERYTHEMA OF ACRAL REGIONS (OMIM:227000)
ESTROGEN RESISTANCE (OMIM:615363)
ETHANOLAMINOSIS (OMIM:227150)
EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC (OMIM:227200)
EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Ear-patella-short stature syndrome (Orphanet:2554)
Early infantile epileptic encephalopathy without suppression burst (Orphanet:369894)
Early myoclonic encephalopathy (Orphanet:1935)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity (Orphanet:352654)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Ebstein malformation (Orphanet:1880)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ectodermal dysplasia - cutaneous syndactyly syndrome (Orphanet:247827)
Ectodermal dysplasia - sensorineural deafness (Orphanet:1883)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
Ectrodactyly - polydactyly (Orphanet:1892)
Ehlers-Danlos syndrome due to tenascin-X deficiency (Orphanet:230839)
Ehlers-Danlos syndrome, cardiac valvular type (Orphanet:230851)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, fibronectinemic type (Orphanet:75501)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Eiken syndrome (Orphanet:79106)
Ellis Van Creveld syndrome (Orphanet:289)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Encephalopathy due to hydroxykynureninuria (Orphanet:79155)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts (OMIM:225740)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
Endomyocardial fibroelastosis (Orphanet:2022)
Endosteal sclerosis - cerebellar hypoplasia (Orphanet:85186)
Eosinophilic fasciitis (Orphanet:3165)
Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257)
Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Epileptic encephalopathy with global cerebral demyelination (Orphanet:353217)
Ermine phenotype (Orphanet:999)
Erythropoietic protoporphyria (Orphanet:79278)
Essential fructosuria (Orphanet:2056)
Ethylmalonic encephalopathy (Orphanet:51188)
Exfoliative ichthyosis (Orphanet:289586)
Eyebrow duplication - syndactyly (Orphanet:3172)
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (OMIM:227250)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
FACIOCARDIOMELIC SYNDROME (OMIM:612731)
FACIOTHORACOGENITAL SYNDROME (OMIM:227320)
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 (OMIM:613625)
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEINC AND PROTEIN C INHIBITOR (OMIM:227310)
FACTOR XIII, B SUBUNIT, DEFICIENCY OF (OMIM:613235)
FADD-related immunodeficiency (Orphanet:306550)
FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP F (OMIM:603467)
FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FANCONI ANEMIA, COMPLEMENTATION GROUP M (OMIM:614087)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
FANCONI-LIKE SYNDROME (OMIM:227850)
FASCIAL DYSTROPHY, CONGENITAL (OMIM:228020)
FAZIO-LONDE DISEASE (OMIM:211500)
FEBRILE SEIZURES, FAMILIAL, 11 (OMIM:614418)
FEVER, FAMILIAL LIFELONG PERSISTENT (OMIM:228400)
FIBROCHONDROGENESIS 2 (OMIM:614524)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
FOCAL EPITHELIAL HYPERPLASIA, ORAL (OMIM:229045)
FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
FOCAL FACIAL DERMAL DYSPLASIA 4 (OMIM:614974)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (OMIM:614131)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
FOVEAL HYPOPLASIA 2 (OMIM:609218)
FRASER-LIKE SYNDROME (OMIM:229230)
FREESIA FLOWERS, INABILITY TO SMELL (OMIM:229250)
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA (OMIM:229310)
FRUCTOSE AND GALACTOSE INTOLERANCE (OMIM:229500)
FRUCTOSE UTILIZATION (OMIM:229650)
FUCOSYLTRANSFERASE 1 (OMIM:211100)
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM (OMIM:264420)
Facial dysmorphism - immunodeficiency - livedo - short stature (Orphanet:352712)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Faciocardiorenal syndrome (Orphanet:1973)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (Orphanet:95700)
Familial angiolipomatosis (Orphanet:199279)
Familial apolipoprotein C-II deficiency (Orphanet:309020)
Familial benign flecked retina (Orphanet:363989)
Familial dysautonomia (Orphanet:1764)
Familial glucocorticoid deficiency (Orphanet:361)
Familial hemophagocytic lymphohistiocytosis (Orphanet:540)
Familial hypercholanemia (Orphanet:238475)
Familial hypoaldosteronism (Orphanet:427)
Familial hypofibrinogenemia (Orphanet:101041)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis (Orphanet:31043)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement (Orphanet:2196)
Familial idiopathic steroid-resistant nephrotic syndrome (Orphanet:656)
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation (Orphanet:93214)
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes (Orphanet:93216)
Familial infantile myoclonic epilepsy (Orphanet:352582)
Familial isolated congenital asplenia (Orphanet:101351)
Familial lipoprotein lipase deficiency (Orphanet:309015)
Familial primary hypomagnesemia with normocalcuria and normocalcemia (Orphanet:34527)
Familial reactive perforating collagenosis (Orphanet:79147)
Familial retinal arterial macroaneurysm (Orphanet:284247)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (Orphanet:280406)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Farber lipogranulomatosis (Orphanet:333)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (Orphanet:439854)
Fatal infantile cytochrome C oxidase deficiency (Orphanet:1561)
Fatal infantile hypertonic myofibrillar myopathy (Orphanet:280553)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Fatal multiple mitochondrial dysfunction syndrome (Orphanet:289573)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet:363409)
Fetal iodine syndrome (Orphanet:1910)
Fibrochondrogenesis (Orphanet:2021)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Filippi syndrome (Orphanet:3255)
Fixed subaortic stenosis (Orphanet:3092)
Formiminoglutamic aciduria (Orphanet:51208)
Fountain syndrome (Orphanet:3219)
Fowler syndrome (Orphanet:221126)
Fraser syndrome (Orphanet:2052)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Freeman-Sheldon syndrome (Orphanet:2053)
Fried's tooth and nail syndrome (Orphanet:99672)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (Orphanet:306542)
Fructose-1,6-bisphosphatase deficiency (Orphanet:348)
Fryns syndrome (Orphanet:2059)
Fucosidosis (Orphanet:349)
Fuhrmann syndrome (Orphanet:2854)
Fumaric aciduria (Orphanet:24)
GALACTORRHEA (OMIM:230300)
GAPO syndrome (Orphanet:2067)
GCS1-CDG (Orphanet:79330)
GILBERT SYNDROME (OMIM:143500)
GLAUCOMA 3, PRIMARY CONGENITAL, D (OMIM:613086)
GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
GLUCOCORTICOID DEFICIENCY 2 (OMIM:607398)
GLUCOCORTICOID DEFICIENCY 3 (OMIM:609197)
GLUCOCORTICOID DEFICIENCY 4 (OMIM:614736)
GLUTATHIONE PEROXIDASE DEFICIENCY (OMIM:614164)
GLUTATHIONE REDUCTASE (OMIM:138300)
GLUTEAL MUSCLES, ABSENCE OF (OMIM:231970)
GLYCEROL QUANTITATIVE TRAIT LOCUS (OMIM:614411)
GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
GLYCOPROTEIN STORAGE DISEASE (OMIM:232900)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 2 (Orphanet:79256)
GM1 gangliosidosis type 3 (Orphanet:79257)
GM2-gangliosidosis, AB variant (Orphanet:309246)
GOMBO SYNDROME (OMIM:233270)
GONADAL AGENESIS (OMIM:600171)
GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY (OMIM:233600)
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE (OMIM:233690)
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE I (OMIM:233700)
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE II (OMIM:233710)
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,TYPE III (OMIM:613960)
GROUPED PIGMENTATION OF THE RETINA (OMIM:233800)
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY (OMIM:608278)
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL (OMIM:615925)
Galactose epimerase deficiency (Orphanet:79238)
Galactosemia (Orphanet:352)
Galactosialidosis (Orphanet:351)
Galloway-Mowat syndrome (Orphanet:2065)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Gamma-glutamyl transpeptidase deficiency (Orphanet:33573)
Gamma-glutamylcysteine synthetase deficiency (Orphanet:33574)
Gelatinous drop-like corneal dystrophy (Orphanet:98957)
Geleophysic dysplasia (Orphanet:2623)
Generalized arterial calcification of infancy (Orphanet:51608)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Generalized peeling skin syndrome (Orphanet:263543)
Generalized pseudohypoaldosteronism type 1 (Orphanet:171876)
Generalized pustular psoriasis (Orphanet:247353)
Genetic recurrent myoglobinuria (Orphanet:99845)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
German syndrome (Orphanet:2077)
Geroderma osteodysplastica (Orphanet:2078)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Giant axonal neuropathy (Orphanet:643)
Gingival fibromatosis - facial dysmorphism (Orphanet:2025)
Gitelman syndrome (Orphanet:358)
Glanzmann thrombasthenia (Orphanet:849)
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea (Orphanet:238763)
Glucose-galactose malabsorption (Orphanet:35710)
Glutaric acidemia type 3 (Orphanet:35706)
Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet:289846)
Glutathione synthetase deficiency without 5-oxoprolinuria (Orphanet:289849)
Glycine encephalopathy (Orphanet:407)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364)
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (Orphanet:308621)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to glycogenin deficiency (Orphanet:263297)
Glycogen storage disease due to hepatic glycogen synthase deficiency (Orphanet:2089)
Glycogen storage disease due to lactate dehydrogenase deficiency (Orphanet:2364)
Glycogen storage disease due to liver glycogen phosphorylase deficiency (Orphanet:369)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency (Orphanet:137625)
Glycogen storage disease due to muscle beta-enolase deficiency (Orphanet:99849)
Glycogen storage disease due to muscle glycogen phosphorylase deficiency (Orphanet:368)
Glycogen storage disease due to muscle phosphofructokinase deficiency (Orphanet:371)
Glycogen storage disease due to phosphoglucomutase deficiency (Orphanet:711)
Glycogen storage disease due to phosphoglycerate mutase deficiency (Orphanet:97234)
Glycogen storage disease due to phosphorylase kinase deficiency (Orphanet:370)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldmann-Favre syndrome (Orphanet:53540)
Gollop-Wolfgang complex (Orphanet:1986)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Goodman syndrome (Orphanet:65798)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Gray platelet syndrome (Orphanet:721)
Greenberg dysplasia (Orphanet:1426)
Griscelli disease (Orphanet:381)
Griscelli disease type 2 (Orphanet:79477)
Griscelli disease type 3 (Orphanet:79478)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
Gräsbeck-Imerslund disease (Orphanet:35858)
Guanidinoacetate methyltransferase deficiency (Orphanet:382)
Gyrate atrophy of choroid and retina (Orphanet:414)
HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES (OMIM:234800)
HEME OXYGENASE 1 DEFICIENCY (OMIM:614034)
HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS (OMIM:235370)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN (OMIM:235500)
HEPATIC LIPASE DEFICIENCY (OMIM:614025)
HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
HERMANSKY-PUDLAK SYNDROME 6 (OMIM:614075)
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4 (OMIM:614850)
HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIGTOES, AND VENTRICULAR SEPTAL DEFECT (OMIM:235750)
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT (OMIM:235830)
HISTIOCYTOSIS, FAMILIAL LIPOCHROME (OMIM:235900)
HOLOPROSENCEPHALY 1 (OMIM:236100)
HOMOZYGOUS 11p15-p14 DELETION SYNDROME (OMIM:606528)
HOOFT DISEASE (OMIM:236300)
HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES (OMIM:236410)
HUMERORADIAL SYNOSTOSISHUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME, INCLUDED (OMIM:236400)
HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME (OMIM:236450)
HYDATIDIFORM MOLE, RECURRENT, 2 (OMIM:614293)
HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA (OMIM:236500)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 (OMIM:615219)
HYDROCEPHALUS, NORMAL-PRESSURE (OMIM:236690)
HYDROLETHALUS SYNDROME 2 (OMIM:614120)
HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES (OMIM:613124)
HYDROXYPROLINEMIA (OMIM:237000)
HYMEN, IMPERFORATE (OMIM:237100)
HYPERBILIRUBINEMIA, CONJUGATED, TYPE III (OMIM:237550)
HYPERBILIRUBINEMIA, SHUNT, PRIMARY (OMIM:237800)
HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:277350)
HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE (OMIM:603813)
HYPEREKPLEXIA 2 (OMIM:614619)
HYPEREKPLEXIA 3 (OMIM:614618)
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
HYPERLEXIA (OMIM:238350)
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA (OMIM:239199)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES (OMIM:239350)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
HYPERTELORISM AND TETRALOGY OF FALLOT (OMIM:239711)
HYPERTROPHIC NEUROPATHY AND CATARACT (OMIM:239900)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 (OMIM:614441)
HYPERVITAMINOSIS A, SUSCEPTIBILITY TO (OMIM:240150)
HYPOADRENOCORTICISM, FAMILIAL (OMIM:240200)
HYPOASCORBEMIA (OMIM:240400)
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (OMIM:605019)
HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY (OMIM:241000)
HYPOGONADISM, MALEHYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED (OMIM:241100)
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA (OMIM:614839)
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA (OMIM:614840)
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA (OMIM:614842)
HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES (OMIM:241120)
HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY (OMIM:241150)
HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS (OMIM:241519)
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION (OMIM:607236)
HYPOPROTEINEMIA, HYPERCATABOLIC (OMIM:241600)
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED (OMIM:241800)
HYPOTRICHOSIS 1 (OMIM:605389)
HYPOTRICHOSIS 6 (OMIM:607903)
HYPOTRICHOSIS 7 (OMIM:604379)
HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY (OMIM:242050)
Haim-Munk syndrome (Orphanet:2342)
Hair defect - photosensitivity - intellectual deficit (Orphanet:1408)
Hall-Riggs syndrome (Orphanet:2107)
Hallux varus - preaxial polysyndactyly (Orphanet:2110)
Harlequin ichthyosis (Orphanet:457)
Hartnup syndrome (Orphanet:2116)
Heart defect - round face - congenital developmental delay (Orphanet:1355)
Heart defects - limb shortening (Orphanet:1354)
Hemolytic anemia due to adenylate kinase deficiency (Orphanet:86817)
Hemolytic anemia due to diphosphoglycerate mutase deficiency (Orphanet:714)
Hemolytic anemia due to glucophosphate isomerase deficiency (Orphanet:712)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (Orphanet:35120)
Hemolytic anemia due to red cell pyruvate kinase deficiency (Orphanet:766)
Hennekam syndrome (Orphanet:2136)
Hennekam-Beemer syndrome (Orphanet:2135)
Hepatic veno-occlusive disease - immunodeficiency (Orphanet:79124)
Hereditary acrokeratotic poikiloderma of Kindler-Weary (Orphanet:306539)
Hereditary arterial and articular multiple calcification syndrome (Orphanet:289601)
Hereditary combined deficiency of vitamin K-dependent clotting factors (Orphanet:98434)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary hyperekplexia (Orphanet:3197)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Hereditary hypotrichosis with recurrent skin vesicles (Orphanet:217407)
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia (Orphanet:79091)
Hereditary methemoglobinemia (Orphanet:621)
Hereditary motor and sensory neuropathy type 6 (Orphanet:90120)
Hereditary myoclonus - progressive distal muscular atrophy (Orphanet:2590)
Hereditary orotic aciduria (Orphanet:30)
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type (Orphanet:86923)
Hereditary renal hypouricemia (Orphanet:94088)
Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970)
Hereditary sensory and autonomic neuropathy type 4 (Orphanet:642)
Hereditary sensory and autonomic neuropathy type 5 (Orphanet:64752)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
Hereditary sensory and autonomic neuropathy with spastic paraplegia (Orphanet:139578)
Hereditary thrombophilia due to congenital antithrombin deficiency (Orphanet:82)
Hereditary xanthinuria (Orphanet:3467)
Hermansky-Pudlak syndrome type 7 (Orphanet:231531)
Hermansky-Pudlak syndrome type 8 (Orphanet:231537)
Hermansky-Pudlak syndrome type 9 (Orphanet:280663)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Hermansky-Pudlak syndrome with pulmonary fibrosis (Orphanet:231500)
Hermansky-Pudlak syndrome without pulmonary fibrosis (Orphanet:231512)
Herpetic encephalitis (Orphanet:1930)
Heterotaxia (Orphanet:450)
High myopia-sensorineural deafness syndrome (Orphanet:363396)
Hirschsprung disease - deafness - polydactyly (Orphanet:2155)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Hodgkin lymphoma, classical (Orphanet:391)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holzgreve-Wagner-Rehder syndrome (Orphanet:2167)
Homocarnosinosis (Orphanet:2168)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)
Honey-droplet corneal dystrophy (Orphanet:98958)
Horizontal gaze palsy with progressive scoliosis (Orphanet:2744)
Huntington disease-like 3 (Orphanet:157946)
Hurler-Scheie syndrome (Orphanet:93476)
Hyaline body myopathy (Orphanet:53698)
Hyaluronidase deficiency (Orphanet:67041)
Hydrocephaly - tall stature - joint laxity (Orphanet:2181)
Hydrolethalus (Orphanet:2189)
Hyper-IgM syndrome type 2 (Orphanet:101089)
Hyper-IgM syndrome type 3 (Orphanet:101090)
Hyper-IgM syndrome type 4 (Orphanet:101091)
Hyper-IgM syndrome type 5 (Orphanet:101092)
Hyper-beta-alaninemia (Orphanet:309147)
Hyperandrogenism due to cortisone reductase deficiency (Orphanet:168588)
Hyperbiliverdinemia (Orphanet:276405)
Hypercalcemic tumoral calcinosis (Orphanet:306661)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (Orphanet:83639)
Hyperdibasic aminoaciduria type 1 (Orphanet:1032)
Hypergonadotropic hypogonadism - cataract syndrome (Orphanet:2410)
Hyperimmunoglobulinemia D with periodic fever (Orphanet:343)
Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency (Orphanet:71212)
Hyperleucine-isoleucinemia (OMIM:238340)
Hypermethioninemia due to glycine N-methyltransferase deficiency (Orphanet:289891)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperostosis corticalis generalisata (Orphanet:3416)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hyperprolinemia type 1 (Orphanet:419)
Hyperprolinemia type 2 (Orphanet:79101)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypocalcemic vitamin D-dependent rickets (Orphanet:289157)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome (Orphanet:363523)
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia (Orphanet:1882)
Hypoinsulinemic hypoglycemia and body hemihypertrophy (Orphanet:293964)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Hypomaturation amelogenesis imperfecta (Orphanet:100033)
Hypomyelination - congenital cataract (Orphanet:85163)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (Orphanet:363412)
Hypophosphatemic rickets, autosomal recessive, 2 (OMIM:613312)
Hypoplasminogenemia (Orphanet:722)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
Hypothyroidism due to TSH receptor mutations (Orphanet:90673)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Hypotonia - failure to thrive - microcephaly (Orphanet:79507)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
Hypotrichosis - lymphedema - telangiectasia (Orphanet:69735)
Hypotrichosis simplex (Orphanet:55654)
Hypotrichosis with juvenile macular degeneration (Orphanet:1573)
ICF syndrome (Orphanet:2268)
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS (OMIM:242150)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7 (OMIM:615022)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 (OMIM:613943)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA (OMIM:242550)
ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULESIN THE SKIN (OMIM:601039)
IMMUNE DEFICIENCY DISEASE (OMIM:242850)
IMMUNODEFICIENCY 12 (OMIM:615468)
IMMUNODEFICIENCY 15 (OMIM:615592)
IMMUNODEFICIENCY 16 (OMIM:615593)
IMMUNODEFICIENCY 17 (OMIM:615607)
IMMUNODEFICIENCY 18 (OMIM:615615)
IMMUNODEFICIENCY 19 (OMIM:615617)
IMMUNODEFICIENCY 20 (OMIM:615707)
IMMUNODEFICIENCY 24 (OMIM:615897)
IMMUNODEFICIENCY 25 (OMIM:610163)
IMMUNODEFICIENCY 28 (OMIM:614889)
IMMUNODEFICIENCY 30 (OMIM:614891)
IMMUNODEFICIENCY 38, WITH BASAL GANGLIA CALCIFICATION (OMIM:616126)
IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
IMMUNODEFICIENCY, COMMON VARIABLE, 3 (OMIM:613493)
IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
IMMUNOERYTHROMYELOID HYPOPLASIA (OMIM:242880)
IMMUNOGLOBULIN A DEFICIENCY 1 (OMIM:137100)
IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW (OMIM:242890)
INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION (OMIM:243050)
INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE (OMIM:613148)
INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO (OMIM:243080)
INTEGRIN, BETA-3 (OMIM:173470)
INTERNAL CAROTID ARTERIES, HYPOPLASIA OF (OMIM:243100)
INTERSTITIAL NEPHRITIS, KARYOMEGALIC (OMIM:614817)
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (OMIM:600546)
INTRINSIC FACTOR DEFICIENCY (OMIM:261000)
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1 (OMIM:610799)
IRIDA syndrome (Orphanet:209981)
ISOVALERIC ACID, INABILITY TO SMELL (OMIM:243450)
Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit (Orphanet:2269)
Ichthyosis - hepatosplenomegaly - cerebellar degeneration (Orphanet:2274)
Ichthyosis - hypotrichosis - sclerosing cholangitis (Orphanet:59303)
Ichthyosis - intellectual deficit - dwarfism - renal impairment (Orphanet:2278)
Ichthyosis - oral and digital anomalies (Orphanet:2272)
Ichthyosis-hypotrichosis syndrome (Orphanet:91132)
Idiopathic achalasia (Orphanet:930)
Idiopathic intracranial hypertension (Orphanet:238624)
Idiopathic juvenile osteoporosis (Orphanet:85193)
Iminoglycinuria (Orphanet:42062)
Immunodeficiency by defective expression of HLA class 1 (Orphanet:34592)
Immunodeficiency by defective expression of HLA class 2 (Orphanet:572)
Immunodeficiency due to CD25 deficiency (Orphanet:169100)
Immunodeficiency due to a late component of complements deficiency (Orphanet:169150)
Immunodeficiency due to ficolin3 deficiency (Orphanet:331190)
Immunodeficiency with factor H anomaly (Orphanet:200421)
Immunodeficiency with factor I anomaly (Orphanet:200418)
Immunodeficiency with natural-killer cell deficiency (Orphanet:75391)
Immunoglobulin-mediated membranoproliferative glomerulonephritis (Orphanet:329903)
Infantile Bartter syndrome with deafness (Orphanet:89938)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile dystonia-parkinsonism (Orphanet:238455)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile osteopetrosis with neuroaxonal dysplasia (Orphanet:85179)
Infantile regressive hypertriglyceridemia and hepatosteatosis (Orphanet:300293)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (Orphanet:284332)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet:319462)
Inherited congenital spastic tetraplegia (Orphanet:210141)
Intellectual deficiency - hypotonia - spasticity - sleep disorder (Orphanet:356996)
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus (Orphanet:3044)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - spasticity - ectrodactyly (Orphanet:1891)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Intellectual disability-strabismus syndrome (Orphanet:363528)
Intermediate osteopetrosis (Orphanet:210110)
Intestinal epithelial dysplasia (Orphanet:92050)
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (Orphanet:314376)
Isobutyryl-CoA dehydrogenase deficiency (Orphanet:79159)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency (Orphanet:6)
Isolated Pierre Robin syndrome (Orphanet:718)
Isolated anophthalmia - microphthalmia (Orphanet:2542)
Isolated congenital megalocornea (Orphanet:91489)
Isolated follicle stimulating hormone deficiency (Orphanet:52901)
Isolated growth hormone deficiency type IA (Orphanet:231662)
Isolated growth hormone deficiency type IB (Orphanet:231671)
Isolated sulfite oxidase deficiency (Orphanet:99731)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
Isolated thyrotropin-releasing hormone deficiency (Orphanet:238670)
Isotretinoin-like syndrome (Orphanet:2306)
Isovaleric acidemia (Orphanet:33)
Ivemark syndrome (Orphanet:97548)
JUMPING FRENCHMEN OF MAINE (OMIM:244100)
Jalili syndrome (Orphanet:1873)
Jawad syndrome (Orphanet:313795)
Jervell and Lange-Nielsen syndrome 2 (OMIM:612347)
Jeune syndrome (Orphanet:474)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome (Orphanet:475)
Joubert syndrome 13 (OMIM:614173)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 16 (OMIM:614465)
Joubert syndrome 17 (OMIM:614615)
Joubert syndrome 18 (OMIM:614815)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 20 (OMIM:614970)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 22 (OMIM:615665)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome 7 (OMIM:611560)
Joubert syndrome 8 (OMIM:612291)
Joubert syndrome 9 (OMIM:612285)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Junctional epidermolysis bullosa - pyloric atresia (Orphanet:79403)
Junctional epidermolysis bullosa, Herlitz type (Orphanet:79404)
Juvenile Paget disease (Orphanet:2801)
Juvenile amyotrophic lateral sclerosis (Orphanet:300605)
Juvenile hyaline fibromatosis (Orphanet:2028)
Juvenile myoclonic epilepsy (Orphanet:307)
Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency (Orphanet:352497)
Juvenile primary lateral sclerosis (Orphanet:247604)
KAHRIZI SYNDROME (OMIM:612713)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS (OMIM:244600)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Kandori fleck retina (Orphanet:99179)
Kapur-Toriello syndrome (Orphanet:2328)
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (Orphanet:281201)
Ketoacidosis due to beta-ketothiolase deficiency (Orphanet:134)
Keutel syndrome (Orphanet:85202)
Knobloch syndrome (Orphanet:1571)
Kostmann syndrome (Orphanet:99749)
Krabbe disease (Orphanet:487)
Kufor-Rakeb syndrome (Orphanet:306674)
Kyphomelic dysplasia (Orphanet:1801)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
L-FERRITIN DEFICIENCY (OMIM:615604)
LACTIC ACIDURIA DUE TO D-LACTIC ACID (OMIM:245450)
LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
LAMB-2-related infantile-onset nephrotic syndrome (Orphanet:306507)
LAMBOTTE SYNDROME (OMIM:245552)
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY (OMIM:606183)
LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO (OMIM:602068)
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE (OMIM:601356)
LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER (OMIM:246470)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
LIP PRINTS (OMIM:247150)
LIPASE B, LYSOSOMAL ACID (OMIM:247980)
LIPASE DEFICIENCY, COMBINED (OMIM:246650)
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
LOC syndrome (Orphanet:2407)
LUNG CANCERALVEOLAR CELL CARCINOMA, INCLUDED (OMIM:211980)
LUTHERAN NULL (OMIM:247420)
LYMPHEDEMA, CONGENITAL RECESSIVE (OMIM:247440)
LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF (OMIM:247430)
LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN (OMIM:247450)
LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE (OMIM:247630)
LYMPHOKINE DEFICIENCY (OMIM:247650)
LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNEHEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS (OMIM:247800)
LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
LYSINE MALABSORPTION SYNDROME (OMIM:247950)
Lafora disease (Orphanet:501)
Lambert syndrome (Orphanet:1296)
Langer mesomelic dysplasia (Orphanet:2632)
Laron syndrome (Orphanet:633)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491)
Late-onset localized junctional epidermolysis bullosa - intellectual deficit (Orphanet:231556)
Lathosterolosis (Orphanet:46059)
Laurence-Moon syndrome (Orphanet:2377)
Leber congenital amaurosis 1 (OMIM:204000)
Leber congenital amaurosis 10 (OMIM:611755)
Leber congenital amaurosis 13 (OMIM:612712)
Leber congenital amaurosis 14 (OMIM:613341)
Leber congenital amaurosis 15 (OMIM:613843)
Leber congenital amaurosis 16 (OMIM:614186)
Leber congenital amaurosis 17 (OMIM:615360)
Leber congenital amaurosis 2 (OMIM:204100)
Leber congenital amaurosis 3 (OMIM:604232)
Leber congenital amaurosis 4 (OMIM:604393)
Leber congenital amaurosis 5 (OMIM:604537)
Leber congenital amaurosis 6 (OMIM:613826)
Leber congenital amaurosis 7 (OMIM:613829)
Leber congenital amaurosis 8 (OMIM:613835)
Leber congenital amaurosis 9 (OMIM:608553)
Leprosy (Orphanet:548)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal Larsen-like syndrome (Orphanet:2371)
Lethal acantholytic epidermolysis bullosa (Orphanet:158687)
Lethal arthrogryposis - anterior horn cell disease (Orphanet:53696)
Lethal chondrodysplasia, Seller type (Orphanet:1421)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Lethal congenital contracture syndrome type 2 (Orphanet:137776)
Lethal congenital contracture syndrome type 3 (Orphanet:137783)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal occipital encephalocele-skeletal dysplasia syndrome (Orphanet:293925)
Lethal omphalocele-cleft palate syndrome (Orphanet:2736)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Lethal restrictive dermopathy (Orphanet:1662)
Letterer-Siwe disease (Orphanet:99870)
Leukocyte adhesion deficiency (Orphanet:2968)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Leukocyte adhesion deficiency type III (Orphanet:99844)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Leukonychia totalis (Orphanet:2387)
Leydig cell hypoplasia (Orphanet:755)
Lichstenstein syndrome (Orphanet:2390)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Lipodystrophy due to peptidic growth factors deficiency (Orphanet:1979)
Lipoid proteinosis (Orphanet:530)
Lissencephaly syndrome, Norman-Roberts type (Orphanet:89844)
Lissencephaly type 3 - metacarpal bone dysplasia (Orphanet:86822)
Localized junctional epidermolysis bullosa, non-Herlitz type (Orphanet:251393)
Low phospholipid associated cholelithiasis (Orphanet:69663)
Lowry-Wood syndrome (Orphanet:1824)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Lymphedema - atrial septal defects - facial changes (Orphanet:86915)
Lysinuric protein intolerance (Orphanet:470)
Lysosomal acid lipase deficiency (Orphanet:275761)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGEDAPPEARANCE (OMIM:248010)
MACROSOMIA ADIPOSA CONGENITA (OMIM:248100)
MACS syndrome (Orphanet:217335)
MAGNESIUM, ELEVATED RED CELL (OMIM:248260)
MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY (OMIM:602199)
MEDNIK syndrome (Orphanet:171851)
MEGAEPIPHYSEAL DWARFISM (OMIM:249230)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGALENCEPHALY WITH DYSMYELINATION (OMIM:249240)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 (OMIM:611090)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 (OMIM:608443)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31 (OMIM:614329)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34 (OMIM:614499)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35 (OMIM:615162)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 (OMIM:616281)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 (OMIM:611095)
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK (OMIM:609438)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES (OMIM:606772)
MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISSYNDROME (OMIM:610156)
MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES (OMIM:249660)
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION (OMIM:249670)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
METAPHYSEAL ANADYSPLASIA 2 (OMIM:613073)
METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE (OMIM:250300)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY (OMIM:250450)
METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA (OMIM:250500)
METHEMOGLOBINEMIA TYPE IV (OMIM:250790)
METHIONINE MALABSORPTION SYNDROME (OMIM:250900)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS (OMIM:604317)
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604321)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608393)
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
MICROCEPHALY WITH SPASTIC QUADRIPLEGIA (OMIM:251280)
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE (OMIM:601420)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
MICROCOLON (OMIM:251400)
MICROHYDRANENCEPHALY (OMIM:605013)
MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,AND DENTAL ANOMALIES (OMIM:251700)
MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
MICROPHTHALMIA, SYNDROMIC 11 (OMIM:614402)
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS (OMIM:251800)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM (OMIM:601016)
MITCHELL-RILEY SYNDROME (OMIM:615710)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) (OMIM:615418)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT (OMIM:251945)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614894)
MONOCYTE CHEMOTACTIC DISORDER (OMIM:252250)
MONOSODIUM GLUTAMATE SENSITIVITY (OMIM:231630)
MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA (OMIM:600333)
MPI-CDG (Orphanet:79319)
MUCOLIPIDOSIS III GAMMA (OMIM:252605)
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES (OMIM:252700)
MUCUS INSPISSATION OF RESPIRATORY TRACT (OMIM:253240)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 (OMIM:614299)
MUNGAN SYNDROME (OMIM:611376)
MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY (OMIM:253590)
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE (OMIM:609456)
MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (OMIM:254100)
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS (OMIM:601170)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10 (OMIM:615041)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 (OMIM:613154)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 (OMIM:614830)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 (OMIM:613151)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 (OMIM:613152)
MUSCULAR HYPERTONIA, LETHAL (OMIM:254120)
MUSK, INABILITY TO SMELL (OMIM:254150)
MUTYH-related attenuated familial adenomatous polyposis (Orphanet:247798)
MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
MYASTHENIC SYNDROME, CONGENITAL, 15 (OMIM:616227)
MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE (OMIM:254700)
MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT (OMIM:254960)
MYOPATHY WITH ABNORMAL LIPID METABOLISM (OMIM:255100)
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA (OMIM:255140)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET (OMIM:609500)
MYOPATHY, CONGENITAL (OMIM:255300)
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA (OMIM:254950)
MYOPIA 18, AUTOSOMAL RECESSIVE (OMIM:255500)
MYOPIA 23, AUTOSOMAL RECESSIVE (OMIM:615431)
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Macrosomia - microphthalmia - cleft palate (Orphanet:2432)
Macular coloboma - cleft palate - hallux valgus (Orphanet:91494)
Macular corneal dystrophy (Orphanet:98969)
Mal de Meleda (Orphanet:87503)
Male infertility associated with large-headed multiflagellar polyploid spermatozoa (Orphanet:137893)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Malignant migrating partial seizures of infancy (Orphanet:293181)
Malonic aciduria (Orphanet:943)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Marfanoid syndrome, De Silva type (Orphanet:2464)
Marinesco-Sjögren syndrome (Orphanet:559)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
McKusick-Kaufman syndrome (Orphanet:2473)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 10 (OMIM:614175)
Meckel syndrome, type 11 (OMIM:615397)
Meckel syndrome, type 2 (OMIM:603194)
Meckel syndrome, type 3 (OMIM:607361)
Meckel syndrome, type 4 (OMIM:611134)
Meckel syndrome, type 5 (OMIM:611561)
Meckel syndrome, type 8 (OMIM:613885)
Meckel syndrome, type 9 (OMIM:614209)
Mediterranean macrothrombocytopenia (Orphanet:101022)
Medium chain acyl-CoA dehydrogenase deficiency (Orphanet:42)
Megacystis-microcolon-intestinal hypoperistalsis syndrome (Orphanet:2241)
Megalencephalic leukoencephalopathy with subcortical cysts (Orphanet:2478)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mendelian susceptibility to mycobacterial diseases (Orphanet:748)
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (Orphanet:319595)
Mesoaxial synostotic syndactyly with phalangeal reduction (Orphanet:157801)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia - retinitis pigmentosa (Orphanet:166035)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (Orphanet:308425)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Methylmalonic aciduria due to transcobalamin receptor defect (Orphanet:280183)
Mevalonic aciduria (Orphanet:29)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism due to ZNF335 deficiency (Orphanet:329228)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - glomerulonephritis - marfanoid habitus (Orphanet:2172)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome (Orphanet:369970)
Microcytic anemia with liver iron overload (Orphanet:83642)
Microlissencephaly (Orphanet:1083)
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen (Orphanet:251279)
Microphthalmia with limb anomalies (Orphanet:1106)
Microvillous inclusion disease (Orphanet:2290)
Mietens syndrome (Orphanet:2557)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet:255235)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mitochondrial DNA depletion syndrome, myopathic form (Orphanet:254875)
Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet:298)
Mitochondrial nonsyndromic sensorineural deafness (Orphanet:90641)
Miyoshi myopathy (Orphanet:45448)
Moderate multiminicore disease with hand involvement (Orphanet:178145)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Moyamoya disease (Orphanet:2573)
Moynahan syndrome (Orphanet:2574)
Mucolipidosis type 2 (Orphanet:576)
Mucolipidosis type 3 (Orphanet:577)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 4A (Orphanet:309297)
Mucopolysaccharidosis type 4B (Orphanet:309310)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple epiphyseal dysplasia type 4 (Orphanet:93307)
Multiple epiphyseal dysplasia, with miniepiphyses (Orphanet:166032)
Multiple intestinal atresia (Orphanet:2300)
Multiple sulfatase deficiency (Orphanet:585)
Multiple system atrophy (Orphanet:102)
Muscle-eye-brain disease (Orphanet:588)
Myeloperoxidase deficiency (Orphanet:2587)
Myosclerosis (Orphanet:289380)
Myostatin-related muscle hypertrophy (Orphanet:275534)
N-ACETYLASPARTATE DEFICIENCY (OMIM:614063)
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 (OMIM:614149)
NANOPHTHALMOS 2 (OMIM:609549)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 5 (OMIM:605355)
NEMALINE MYOPATHY 7 (OMIM:610687)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY (OMIM:256720)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA (OMIM:608720)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
NEUROPATHY, HEREDITARY SENSORY, ATYPICAL (OMIM:256860)
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
NEUROPATHY, PAINFUL (OMIM:256870)
NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES (OMIM:257000)
NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA (OMIM:257100)
NEUTROPHIL ACTIN DYSFUNCTION (OMIM:257150)
NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D (OMIM:613830)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E (OMIM:614565)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F (OMIM:615058)
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (OMIM:610427)
NONAKA MYOPATHY (OMIM:605820)
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO (OMIM:258660)
NONDISJUNCTION (OMIM:158250)
NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:257400)
Nail-patella-like renal disease (Orphanet:2613)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nasu-Hakola disease (Orphanet:2770)
Nathalie syndrome (Orphanet:2663)
Native American myopathy (Orphanet:168572)
Naxos disease (Orphanet:34217)
Neonatal acute respiratory distress with surfactant metabolism deficiency (Orphanet:217563)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neonatal inflammatory skin and bowel disease (Orphanet:294023)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Nephrogenic diabetes insipidus (Orphanet:223)
Nephronophthisis 12 (OMIM:613820)
Nephronophthisis 13 (OMIM:614377)
Nephronophthisis 14 (OMIM:614844)
Nephronophthisis 15 (OMIM:614845)
Nephronophthisis 16 (OMIM:615382)
Nephronophthisis 2 (OMIM:602088)
Nephronophthisis 3 (OMIM:604387)
Nephronophthisis 4 (OMIM:606966)
Nephronophthisis 7 (OMIM:611498)
Nephronophthisis 9 (OMIM:613824)
Nephronophthisis-like nephropathy 1 (OMIM:613159)
Nephropathy - deafness - hyperparathyroidism (Orphanet:2668)
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome (Orphanet:300333)
Nestor-Guillermo progeria syndrome (Orphanet:280576)
Netherton syndrome (Orphanet:634)
Neu-Laxova syndrome (Orphanet:2671)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Neurodegenerative syndrome due to cerebral folate transport deficiency (Orphanet:217382)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Neutral lipid storage myopathy (Orphanet:98908)
Nijmegen breakage syndrome (Orphanet:647)
Nijmegen breakage syndrome-like disorder (Orphanet:240760)
Non-eruption of teeth - maxillary hypoplasia - genu valgum (Orphanet:2972)
Non-spherocytic hemolytic anemia due to hexokinase deficiency (Orphanet:90031)
Nonacquired combined pituitary hormone deficiency with spine abnormalities (Orphanet:231720)
Normocalcemic tumoral calcinosis (Orphanet:306658)
OBESITY-HYPOVENTILATION SYNDROME (OMIM:257500)
OCULAR MYOPATHY WITH CURARE SENSITIVITY (OMIM:257600)
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS (OMIM:257790)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OCULORENOCEREBELLAR SYNDROME (OMIM:257970)
OGUCHI DISEASE 2 (OMIM:613411)
OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE (OMIM:258300)
ONYCHOTRICHODYSPLASIA AND NEUTROPENIA (OMIM:258360)
OOCYTE MATURATION DEFECT (OMIM:615774)
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS (OMIM:258400)
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE (OMIM:258650)
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
OPTICOCOCHLEODENTATE DEGENERATION (OMIM:258700)
ORAL SENSIBILITY, DISTURBANCE OF (OMIM:258800)
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE (OMIM:602475)
OSTEOARTHRITIS SUSCEPTIBILITY 1 (OMIM:165720)
OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI (OMIM:259270)
OSTEOGENESIS IMPERFECTA, TYPE IX (OMIM:259440)
OSTEOGENESIS IMPERFECTA, TYPE VI (OMIM:613982)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
OSTEOGENESIS IMPERFECTA, TYPE XIV (OMIM:615066)
OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
OSTEOMA OF MIDDLE EAR (OMIM:259650)
OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION (OMIM:259660)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 (OMIM:611490)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
OTOONYCHOPERONEAL SYNDROME (OMIM:259780)
OVARIAN DYSGENESIS 3 (OMIM:614324)
Obesity due to pro-opiomelanocortin deficiency (Orphanet:71526)
Occipital pachygyria and polymicrogyria (Orphanet:280640)
Ochoa syndrome (Orphanet:2704)
Ocular motor apraxia, Cogan type (Orphanet:1125)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocutaneous albinism type 1 (Orphanet:352731)
Oculocutaneous albinism type 2 (Orphanet:79432)
Oculocutaneous albinism type 3 (Orphanet:79433)
Oculocutaneous albinism type 4 (Orphanet:79435)
Oculocutaneous albinism type 5 (Orphanet:370091)
Oculocutaneous albinism type 6 (Orphanet:370097)
Oculocutaneous albinism type 7 (Orphanet:352745)
Oculogastrointestinal muscular dystrophy (Orphanet:1876)
Oculoosteocutaneous syndrome (Orphanet:2713)
Oculopharyngodistal myopathy (Orphanet:98897)
Oculotrichoanal syndrome (Orphanet:2717)
Oculotrichodysplasia (Orphanet:2718)
Odonto-onycho-dermal dysplasia (Orphanet:2721)
Odontomicronychial dysplasia (Orphanet:1811)
Odontotrichomelic syndrome (Orphanet:2723)
Oguchi disease (Orphanet:75382)
Oliver syndrome (Orphanet:2920)
Omenn syndrome (Orphanet:39041)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Osteogenesis imperfecta type 3 (Orphanet:216812)
Osteopetrosis - hypogammaglobulinemia (Orphanet:178389)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Osteoporosis - pseudoglioma (Orphanet:2788)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
Oxoglutaricaciduria (Orphanet:31)
P2Y12 defect (Orphanet:36355)
PACHYGYRIA, FRONTOTEMPORAL (OMIM:610279)
PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:260130)
PALANT CLEFT PALATE SYNDROME (OMIM:260150)
PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE (OMIM:260450)
PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX (OMIM:260480)
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
PEELING SKIN SYNDROME 3 (OMIM:616265)
PEHO syndrome (Orphanet:2836)
PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN (OMIM:260570)
PERICARDIAL EFFUSION, CHRONIC (OMIM:260900)
PERIODONTITIS, AGGRESSIVE, 1 (OMIM:170650)
PERIODONTITIS, CHRONIC (OMIM:260950)
PERIPHERAL CONE DYSTROPHY (OMIM:609021)
PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, ANDSPONGY DEGENERATION OF BRAIN (OMIM:260970)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PERONEUS TERTIUS MUSCLE, ABSENCE OF (OMIM:261400)
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) (OMIM:614887)
PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) (OMIM:614872)
PEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
PHENFORMIN 4-HYDROXYLATION (OMIM:261590)
PHOSPHOLIPASE A2, GROUP IVA (OMIM:600522)
PITUITARY DWARFISM WITH LARGE SELLA TURCICA (OMIM:262710)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF (OMIM:262800)
PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL (OMIM:248310)
PLATELET GLYCOPROTEIN IV DEFICIENCY (OMIM:608404)
PLATELET PROSTACYCLIN RECEPTOR DEFECT (OMIM:262875)
PLEOCONIAL MYOPATHY WITH SALT CRAVING (OMIM:262900)
PMM2-CDG (Orphanet:79318)
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA (OMIM:263210)
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS (OMIM:263100)
POLYDACTYLY, POSTAXIAL, TYPE A5 (OMIM:263450)
POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
POLYHYDRAMNIOS, CHRONIC IDIOPATHIC (OMIM:263610)
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE (OMIM:615752)
POLYMYOCLONUS, INFANTILE (OMIM:263550)
POLYSACCHARIDE, STORAGE OF UNUSUAL (OMIM:263600)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
PREMATURE CENTROMERE DIVISION (OMIM:212790)
PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
PREMATURE OVARIAN FAILURE 9 (OMIM:615724)
PRENATAL BOWING (OMIM:264050)
PREPAPILLARY VASCULAR LOOPS (OMIM:264060)
PROGESTERONE RESISTANCE (OMIM:264080)
PROLACTIN DEFICIENCY, ISOLATED (OMIM:264110)
PSEUDOURIDINURIA AND MENTAL DEFECT (OMIM:264500)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
PULMONARY BULLAE CAUSING PNEUMOTHORAX (OMIM:265200)
PYCR1-related DeBarsy syndrome (Orphanet:293633)
PYGMY (OMIM:265850)
PYLORIC ATRESIA (OMIM:265950)
PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
Pachygyria - intellectual deficit - epilepsy (Orphanet:2798)
Pancreatic insufficiency - anemia - hyperostosis (Orphanet:199337)
Pancreatic triacylglycerol lipase deficiency (Orphanet:309031)
Panhypopituitarism (Orphanet:90695)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Papillon-Lefèvre syndrome (Orphanet:678)
Parana hard-skin syndrome (Orphanet:2812)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Pellagra-like skin rash-neurological manifestations (Orphanet:2837)
Pelviscapular dysplasia (Orphanet:93333)
Pendred syndrome (Orphanet:705)
Pentosuria (Orphanet:2843)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peripheral motor neuropathy - dysautonomia (Orphanet:2400)
Perlman syndrome (Orphanet:2849)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Persistent Müllerian duct syndrome (Orphanet:2856)
Peters anomaly (Orphanet:708)
Peters-plus syndrome (Orphanet:709)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Phocomelia, Schinzel type (Orphanet:2879)
Phosphoenolpyruvate carboxykinase 1 deficiency (Orphanet:79316)
Phosphoenolpyruvate carboxykinase deficiency (Orphanet:2880)
Phosphoserine aminotransferase deficiency (Orphanet:284417)
Pierson syndrome (Orphanet:2670)
Pili torti (Orphanet:2889)
Pilodental dysplasia - refractive errors (Orphanet:2892)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Poikiloderma with neutropenia (Orphanet:221046)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polymicrogyria with optic nerve hypoplasia (Orphanet:250972)
Polyneuropathy - hand defect (Orphanet:2926)
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract (Orphanet:171848)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Porencephaly - cerebellar hypoplasia - internal malformations (Orphanet:2941)
Porencephaly-microcephaly-bilateral congenital cataract syndrome (Orphanet:306547)
Porphyria due to ALA dehydratase deficiency (Orphanet:100924)
Postaxial acrofacial dysostosis (Orphanet:246)
Postaxial polydactyly - dental and vertebral anomalies (Orphanet:2916)
Posterior column ataxia - retinitis pigmentosa (Orphanet:88628)
Postsynaptic congenital myasthenic syndromes (Orphanet:98913)
Presynaptic congenital myasthenic syndromes (Orphanet:98914)
Primary CD59 deficiency (Orphanet:169464)
Primary ciliary dyskinesia (Orphanet:244)
Primary dystonia, DYT2 type (Orphanet:99657)
Primary hypergonadotropic hypogonadism - partial alopecia (Orphanet:2232)
Primary hyperoxaluria (Orphanet:416)
Primary immunodeficiency syndrome due to p14 deficiency (Orphanet:90023)
Primary sclerosing cholangitis (Orphanet:171)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Progressive deafness with stapes fixation (Orphanet:3235)
Progressive demyelinating neuropathy with bilateral striatal necrosis (Orphanet:217396)
Progressive epilepsy-intellectual deficit, Finnish type (Orphanet:1947)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
Progressive familial intrahepatic cholestasis (Orphanet:172)
Progressive familial intrahepatic cholestasis type 2 (Orphanet:79304)
Progressive familial intrahepatic cholestasis type 3 (Orphanet:79305)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Progressive myoclonic epilepsy type 6 (Orphanet:280620)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Progressive pseudorheumatoid arthropathy of childhood (Orphanet:1159)
Progressive retinal dystrophy due to retinol transport defect (Orphanet:352718)
Progressive symmetric erythrokeratodermia (Orphanet:316)
Prolidase deficiency (Orphanet:742)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Propionic acidemia (Orphanet:35)
Protein R deficiency (Orphanet:2967)
Proximal spinal muscular atrophy (Orphanet:70)
Proximal spinal muscular atrophy type 2 (Orphanet:83418)
Proximal spinal muscular atrophy type 3 (Orphanet:83419)
Proximal spinal muscular atrophy type 4 (Orphanet:83420)
Prune belly syndrome (Orphanet:2970)
Pseudoaminopterin syndrome (Orphanet:221120)
Pseudodiastrophic dysplasia (Orphanet:85174)
Pseudohypoaldosteronism type 2D (Orphanet:300525)
Pseudoprogeria syndrome (Orphanet:2985)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Pulmonary alveolar microlithiasis (Orphanet:60025)
Pure hair and nail ectodermal dysplasia (Orphanet:69084)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pycnodysostosis (Orphanet:763)
Pyknoachondrogenesis (Orphanet:3003)
Pyle disease (Orphanet:3005)
Pyridoxal phosphate-responsive seizures (Orphanet:79096)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate dehydrogenase E1-beta deficiency (Orphanet:255138)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
RADICULONEUROPATHY, FATAL NEONATAL (OMIM:266250)
RAPADILINO syndrome (Orphanet:3021)
RED SKIN PIGMENT ANOMALY OF NEW GUINEA (OMIM:266350)
REESE RETINAL DYSPLASIA (OMIM:266400)
RENAL AND MULLERIAN DUCT HYPOPLASIA (OMIM:266810)
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO (OMIM:601331)
RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
RENAL TUBULAR ACIDOSIS III (OMIM:267200)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 (OMIM:615415)
RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA (OMIM:267480)
RETINAL CONE DYSTROPHY 3A (OMIM:610024)
RETINAL CONE DYSTROPHY 4 (OMIM:610478)
RETINAL DEGENERATION AND EPILEPSY (OMIM:267740)
RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE (OMIM:267800)
RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA (OMIM:267900)
RETINITIS PIGMENTOSA 12 (OMIM:600105)
RETINITIS PIGMENTOSA 14 (OMIM:600132)
RETINITIS PIGMENTOSA 19 (OMIM:601718)
RETINITIS PIGMENTOSA 20 (OMIM:613794)
RETINITIS PIGMENTOSA 25 (OMIM:602772)
RETINITIS PIGMENTOSA 26 (OMIM:608380)
RETINITIS PIGMENTOSA 28 (OMIM:606068)
RETINITIS PIGMENTOSA 29 (OMIM:612165)
RETINITIS PIGMENTOSA 35 (OMIM:610282)
RETINITIS PIGMENTOSA 36 (OMIM:610599)
RETINITIS PIGMENTOSA 37 (OMIM:611131)
RETINITIS PIGMENTOSA 38 (OMIM:613862)
RETINITIS PIGMENTOSA 39 (OMIM:613809)
RETINITIS PIGMENTOSA 4 (OMIM:613731)
RETINITIS PIGMENTOSA 40 (OMIM:613801)
RETINITIS PIGMENTOSA 41 (OMIM:612095)
RETINITIS PIGMENTOSA 43 (OMIM:613810)
RETINITIS PIGMENTOSA 45 (OMIM:613767)
RETINITIS PIGMENTOSA 46 (OMIM:612572)
RETINITIS PIGMENTOSA 47 (OMIM:613758)
RETINITIS PIGMENTOSA 49 (OMIM:613756)
RETINITIS PIGMENTOSA 51 (OMIM:613464)
RETINITIS PIGMENTOSA 54 (OMIM:613428)
RETINITIS PIGMENTOSA 55 (OMIM:613575)
RETINITIS PIGMENTOSA 56 (OMIM:613581)
RETINITIS PIGMENTOSA 57 (OMIM:613582)
RETINITIS PIGMENTOSA 58 (OMIM:613617)
RETINITIS PIGMENTOSA 59 (OMIM:613861)
RETINITIS PIGMENTOSA 6 (OMIM:312612)
RETINITIS PIGMENTOSA 61 (OMIM:614180)
RETINITIS PIGMENTOSA 62 (OMIM:614181)
RETINITIS PIGMENTOSA 66 (OMIM:615233)
RETINITIS PIGMENTOSA 67 (OMIM:615565)
RETINITIS PIGMENTOSA 68 (OMIM:615725)
RETINITIS PIGMENTOSA 69 (OMIM:615780)
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS (OMIM:268010)
RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
RETINITIS PIGMENTOSA, LATE-ADULT ONSET (OMIM:268025)
RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE (OMIM:268060)
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION (OMIM:268050)
RETINOSCHISIS OF FOVEA (OMIM:268080)
RFT1-CDG (Orphanet:244310)
RHESUS BLOOD GROUP, CcEe ANTIGENS (OMIM:111700)
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA (OMIM:610319)
RIBBING DISEASE (OMIM:601477)
RIDDLE SYNDROME (OMIM:611943)
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL (OMIM:614498)
ROWLEY-ROSENBERG SYNDROME (OMIM:268500)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Ramon syndrome (Orphanet:3019)
Recessive aplasia cutis congenita of limbs (Orphanet:1115)
Recessive hereditary methemoglobinemia type 1 (Orphanet:139373)
Recurrent Neisseria infections due to factor D deficiency (Orphanet:169467)
Recurrent infection due to specific granule deficiency (Orphanet:169142)
Recurrent infections associated with rare immunoglobulin isotypes deficiency (Orphanet:183675)
Recurrent infections-myelofibrosis-nephromegaly syndrome (Orphanet:369852)
Refsum disease (Orphanet:773)
Renal glucosuria (Orphanet:69076)
Renal tubular dysgenesis (Orphanet:3033)
Renal-genital-middle ear anomalies (Orphanet:1092)
Renal-hepatic-pancreatic dysplasia (Orphanet:294415)
Reticular dysgenesis (Orphanet:33355)
Retinal degeneration - nanophthalmos - glaucoma (Orphanet:1574)
Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications (Orphanet:3018)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
Retinopathy, Burgess-Black type (Orphanet:139455)
Retroperitoneal fibrosis (Orphanet:49041)
Rh deficiency syndrome (Orphanet:71275)
Rhabdomyosarcoma (Orphanet:780)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic chondrodysplasia punctata type 3 (Orphanet:309803)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Riboflavin transporter deficiency (Orphanet:97229)
Ribose 5-phosphate isomerase deficiency (OMIM:608611)
Richards-Rundle syndrome (Orphanet:1399)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Richieri Costa-da Silva syndrome (Orphanet:3101)
Right ventricular hypoplasia (Orphanet:439)
Roberts syndrome (Orphanet:3103)
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp (Orphanet:163727)
Rosselli-Gulienetti syndrome (Orphanet:90339)
Rothmund-Thomson syndrome (Orphanet:2909)
Rotor syndrome (Orphanet:3111)
Rudiger syndrome (Orphanet:3118)
SABINAS BRITTLE HAIR SYNDROME (OMIM:211390)
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES (OMIM:615709)
SC PHOCOMELIA SYNDROME (OMIM:269000)
SCLEROSTEOSIS 2 (OMIM:614305)
SECKEL SYNDROME 2 (OMIM:606744)
SECKEL SYNDROME 4 (OMIM:613676)
SECKEL SYNDROME 5 (OMIM:613823)
SECKEL SYNDROME 6 (OMIM:614728)
SECOND METATARSAL-METACARPAL SYNDROME (OMIM:269630)
SECRETORY COMPONENT DEFICIENCY (OMIM:269650)
SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE (OMIM:269720)
SERKAL syndrome (Orphanet:139466)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SHORT STATURE-OBESITY SYNDROME (OMIM:269870)
SJOGREN SYNDROME (OMIM:270150)
SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT (OMIM:270220)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6 (OMIM:210750)
SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL (OMIM:270350)
SLC35A1-CDG (Orphanet:238459)
SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
SPASTIC PARAPLEGIA AND EVANS SYNDROME (OMIM:601608)
SPASTIC PSEUDOSCLEROSIS (OMIM:270900)
SPERMATOGENIC FAILURE 1 (OMIM:258150)
SPERMATOGENIC FAILURE 4 (OMIM:270960)
SPERMATOGENIC FAILURE 8 (OMIM:613957)
SPERMATOGENIC FAILURE 9 (OMIM:613958)
SPHEROCYTOSIS, TYPE 3 (OMIM:270970)
SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION (OMIM:271109)
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY (OMIM:271110)
SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE (OMIM:271200)
SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL (OMIM:271220)
SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES (OMIM:271225)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS (OMIM:271322)
SPLIT-HAND/FOOT MALFORMATION 6 (OMIM:225300)
SPONASTRIME dysplasia (Orphanet:93357)
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES (OMIM:600093)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE (OMIM:271600)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE (OMIM:609223)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
SRD5A3-CDG (Orphanet:324737)
STARGARDT DISEASE 3 (OMIM:600110)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
STEEL SYNDROME (OMIM:615155)
STEVENSON-CAREY SYNDROME (OMIM:611961)
STICKLER SYNDROME, TYPE V (OMIM:614284)
STT3A-CDG (Orphanet:370921)
STT3B-CDG (Orphanet:370924)
SUCCINIC ACIDEMIA (OMIM:600335)
SUGARMAN BRACHYDACTYLY (OMIM:272150)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS (OMIM:272370)
SYNDESMODYSPLASIC DWARFISM (OMIM:272450)
Saldino-Mainzer syndrome (Orphanet:140969)
Salla disease (Orphanet:309334)
Sanfilippo syndrome type B (Orphanet:79270)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Sanjad-Sakati syndrome (Orphanet:2323)
Sarcosinemia (Orphanet:3129)
Say-Barber-Miller syndrome (Orphanet:3132)
Scheie syndrome (Orphanet:93474)
Schilder disease (Orphanet:59298)
Schimke immuno-osseous dysplasia (Orphanet:1830)
Schneckenbecken dysplasia (Orphanet:3144)
Schwartz-Jampel syndrome (Orphanet:800)
Schöpf-Schulz-Passarge syndrome (Orphanet:50944)
Sclerosteosis (Orphanet:3152)
Scott syndrome (Orphanet:806)
Sea-blue histiocytosis (Orphanet:158029)
Seckel syndrome (Orphanet:808)
Seizures - intellectual deficit due to hydroxylysinuria (Orphanet:79156)
Self-healing collodion baby (Orphanet:281122)
Senior-Boichis syndrome (Orphanet:84081)
Senior-Loken syndrome (Orphanet:3156)
Senior-Loken syndrome 3 (OMIM:606995)
Senior-Loken syndrome 4 (OMIM:606996)
Senior-Loken syndrome 5 (OMIM:609254)
Senior-Loken syndrome 6 (OMIM:610189)
Senior-Loken syndrome 7 (OMIM:613615)
Septo-optic dysplasia (Orphanet:3157)
Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy (Orphanet:169095)
Severe combined immunodeficiency due to CARD11 deficiency (Orphanet:357237)
Severe combined immunodeficiency due to CORO1A deficiency (Orphanet:228003)
Severe combined immunodeficiency due to DCLRE1C deficiency (Orphanet:275)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe combined immunodeficiency due to complete RAG1/2 deficiency (Orphanet:331206)
Severe dermatitis-multiple allergies-metabolic wasting syndrome (Orphanet:369992)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Short stature - pituitary and cerebellar defects - small sella turcica (Orphanet:85442)
Short stature due to growth hormone qualitative anomaly (Orphanet:629)
Short stature-delayed bone age due to thyroid hormone metabolism deficiency (Orphanet:171706)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Short-rib thoracic dysplasia 10 with or without polydactyly (OMIM:615630)
Short-rib thoracic dysplasia 11 with or without polydactyly (OMIM:615633)
Short-rib thoracic dysplasia 2 with or without polydactyly (OMIM:611263)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Short-rib thoracic dysplasia 4 with or without polydactyly (OMIM:613819)
Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM:614376)
Short-rib thoracic dysplasia 7 with or without polydactyly (OMIM:614091)
Short-rib thoracic dysplasia 8 with or without polydactyly (OMIM:615503)
Shwachman-Diamond syndrome (Orphanet:811)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Sickle cell anemia (Orphanet:232)
Sinoatrial node dysfunction and deafness (Orphanet:324321)
Sjögren-Larsson syndrome (Orphanet:816)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Skin fragility-woolly hair-palmoplantar keratoderma syndrome (Orphanet:293165)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-McCort dysplasia (Orphanet:178355)
Solitary fibrous tumor (Orphanet:2126)
Spastic ataxia - corneal dystrophy (Orphanet:2572)
Spastic diplegia, infantile type (Orphanet:1680)
Spastic paraplegia - glaucoma - intellectual deficit (Orphanet:2818)
Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet:320406)
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit (Orphanet:3011)
Spectrin-associated autosomal recessive cerebellar ataxia (Orphanet:352403)
Spinal muscular atrophy with respiratory distress (Orphanet:98920)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 1 with axonal neuropathy (Orphanet:94124)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)
Split hand - split foot - deafness (Orphanet:71271)
Spondylo-megaepiphyseal-metaphyseal dysplasia (Orphanet:228387)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondylocostal dysostosis - anal and genitourinary malformations (Orphanet:94095)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia - abnormal dentition (Orphanet:168451)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondyloepimetaphyseal dysplasia, Pakistani type (Orphanet:93282)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepimetaphyseal dysplasia, aggrecan type (Orphanet:171866)
Spondyloepimetaphyseal dysplasia, matrilin-3 type (Orphanet:156728)
Spondyloepiphyseal dysplasia tarda, Kohn type (Orphanet:163665)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, A4 type (Orphanet:168555)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Squamous cell carcinoma of head and neck (Orphanet:67037)
Stargardt disease (Orphanet:827)
Sterile multifocal osteomyelitis with periostitis and pustulosis (Orphanet:210115)
Stimmler syndrome (Orphanet:3199)
Stüve-Wiedemann syndrome (Orphanet:3206)
Subacute sclerosing leukoencephalitis (Orphanet:2806)
Subaortic stenosis - short stature (Orphanet:3191)
Succinyl-CoA:3-ketoacid CoA transferase deficiency (Orphanet:832)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Summitt syndrome (Orphanet:3210)
Susceptibility to chronic infection by Epstein-Barr virus (Orphanet:2566)
Susceptibility to respiratory infections associated with CD8alpha chain mutation (Orphanet:169085)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
Syndromic diarrhea (Orphanet:84064)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (Orphanet:169154)
T-B+ severe combined immunodeficiency due to JAK3 deficiency (Orphanet:35078)
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY (OMIM:615387)
TARDIVE DYSKINESIA (OMIM:272620)
TATSUMI FACTOR DEFICIENCY (OMIM:272650)
TEETH, FUSED (OMIM:273000)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
TERATOMA, PINEAL (OMIM:273120)
TESTES, RUDIMENTARY (OMIM:273150)
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (OMIM:273390)
THANATOPHORIC DYSPLASIA, GLASGOW VARIANT (OMIM:273680)
THREE M SYNDROME 2 (OMIM:612921)
THREE M SYNDROME 3 (OMIM:614205)
THREONINEMIA (OMIM:273770)
THROMBOCYTOPENIA 3 (OMIM:273900)
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
THUMB, DISTAL HYPEREXTENSIBILITY OF (OMIM:274200)
THYMIC APLASIA WITH FETAL DEATH (OMIM:274210)
THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
THYROID DYSHORMONOGENESIS 6 (OMIM:607200)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS (OMIM:275230)
TIGLIC ACIDEMIA (OMIM:275190)
TINEA IMBRICATA, SUSCEPTIBILITY TO (OMIM:275240)
TMCO1 defect syndrome (Orphanet:228407)
TMEM165-CDG (Orphanet:314667)
TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF (OMIM:275250)
TOOTH AGENESIS, SELECTIVE, 6 (OMIM:613097)
TREACHER COLLINS SYNDROME 3 (OMIM:248390)
TRICARBOXYLIC ACID CYCLE, DEFECT OF (OMIM:275370)
TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
TRICHORRHEXIS NODOSA SYNDROME (OMIM:275550)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE (OMIM:601675)
TRIMETHYLAMINURIA (OMIM:602079)
TRISOMY 18-LIKE SYNDROME (OMIM:601161)
TRYPSINOGEN DEFICIENCY (OMIM:614044)
TRYPTOPHANURIA WITH DWARFISM (OMIM:276100)
TUKEL SYNDROME (OMIM:609428)
TUMOR NECROSIS FACTOR (OMIM:191160)
TYROSINOSIS (OMIM:276800)
Talo-patello-scaphoid osteolysis (Orphanet:50809)
Taurodontia - absent teeth - sparse hair (Orphanet:2731)
Tay-Sachs disease (Orphanet:845)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Temperature-sensitive oculocutaneous albinism type 1 (Orphanet:352737)
Temtamy preaxial brachydactyly syndrome (Orphanet:363417)
Temtamy syndrome (Orphanet:1777)
Tessier number 4 facial cleft (Orphanet:141258)
Tetraamelia - multiple malformations (Orphanet:3301)
Thiamine-responsive encephalopathy (Orphanet:199348)
Thiopurine S-methyltransferase deficiency (Orphanet:3315)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thoracomelic dysplasia (Orphanet:1803)
Thrombocytopenia - absent radius (Orphanet:3320)
Thrombotic thrombocytopenic purpura (Orphanet:54057)
Thymic aplasia (Orphanet:83471)
Thymic-renal-anal-lung dysplasia (Orphanet:3326)
Thymoma (Orphanet:99867)
Thyrocerebrorenal syndrome (Orphanet:3327)
Tibial hemimelia (Orphanet:93322)
Torg-Winchester syndrome (Orphanet:3460)
Toriello-Carey syndrome (Orphanet:3338)
Tracheobronchomegaly (Orphanet:3347)
Transcobalamin deficiency (Orphanet:859)
Transient bullous dermolysis of the newborn (Orphanet:79411)
Transient erythroblastopenia of childhood (Orphanet:98871)
Transient familial neonatal hyperbilirubinemia (Orphanet:2312)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Tricho-odonto-onychial dysplasia (Orphanet:3355)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trigonocephaly - bifid nose - acral anomalies (Orphanet:3368)
Triple A syndrome (Orphanet:869)
Tropical pancreatitis (Orphanet:103918)
UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE5 (OMIM:615133)
UROFACIAL SYNDROME 2 (OMIM:615112)
USHER SYNDROME, TYPE IC (OMIM:276904)
USHER SYNDROME, TYPE ID (OMIM:601067)
USHER SYNDROME, TYPE IE (OMIM:602097)
USHER SYNDROME, TYPE IF (OMIM:602083)
USHER SYNDROME, TYPE IG (OMIM:606943)
USHER SYNDROME, TYPE IIC (OMIM:605472)
USHER SYNDROME, TYPE IID (OMIM:611383)
USHER SYNDROME, TYPE IIIB (OMIM:614504)
USHER SYNDROME, TYPE IJ (OMIM:614869)
USHER SYNDROME, TYPE IK (OMIM:614990)
UV-SENSITIVE SYNDROME 2 (OMIM:614621)
UV-SENSITIVE SYNDROME 3 (OMIM:614640)
UV-sensitive syndrome (Orphanet:178338)
Ulbright-Hodes syndrome (Orphanet:3404)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
Unverricht-Lundborg disease (Orphanet:308)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Urocanic aciduria (Orphanet:210128)
Usher syndrome type 1 (Orphanet:231169)
Usher syndrome type 2 (Orphanet:231178)
Usher syndrome type 3 (Orphanet:231183)
VALINEMIA (OMIM:277100)
VAN BOGAERT-HOZAY SYNDROME (OMIM:277150)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH ORWITHOUT MUSCLE WEAKNESS (OMIM:615441)
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY (OMIM:602200)
VISCERAL STEATOSIS, CONGENITAL (OMIM:228100)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION (OMIM:277465)
Van den Ende-Gupta syndrome (Orphanet:2460)
Vici syndrome (Orphanet:1493)
Vitamin B12-responsive methylmalonic acidemia (Orphanet:28)
Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Von Voss-Cherstvoy syndrome (Orphanet:3439)
Von Willebrand disease type 2 (Orphanet:166081)
Von Willebrand disease type 3 (Orphanet:166096)
WAARDENBURG SYNDROME, TYPE 2D (OMIM:608890)
WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
WEILL-MARCHESANI SYNDROME 3 (OMIM:614819)
WEILL-MARCHESANI-LIKE SYNDROME (OMIM:613195)
WERNICKE-KORSAKOFF SYNDROME (OMIM:277730)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM (OMIM:600903)
WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS (OMIM:278100)
Waardenburg syndrome (Orphanet:3440)
Waardenburg-Shah syndrome (Orphanet:897)
Warsaw breakage syndrome (Orphanet:280558)
Weill-Marchesani syndrome (Orphanet:3449)
White forelock with malformations (Orphanet:2475)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiskott-Aldrich syndrome (Orphanet:906)
Wrinkly skin syndrome (Orphanet:2834)
X-linked parkinsonism-spasticity syndrome (Orphanet:363654)
XK aprosencephaly (Orphanet:3469)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xeroderma pigmentosum complementation group A (Orphanet:276249)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Xeroderma pigmentosum complementation group C (Orphanet:276255)
Xeroderma pigmentosum complementation group E (Orphanet:276261)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Xeroderma pigmentosum complementation group G (Orphanet:276267)
Xeroderma pigmentosum variant (Orphanet:90342)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Young adult-onset distal hereditary motor neuropathy (Orphanet:314485)
Young syndrome (Orphanet:3471)
Yunis-Varon syndrome (Orphanet:3472)
ZINC DEFICIENCY, TRANSIENT NEONATAL (OMIM:608118)
Zechi-Ceide syndrome (Orphanet:217017)
Zellweger syndrome (Orphanet:912)
Zlotogora-Ogur syndrome (Orphanet:3253)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
[DEL] PSEUDOXANTHOMA ELASTICUM (OMIM:264800)