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)
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Temtamy syndrome
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(Orphanet:1777)
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Tessier number 4 facial cleft
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(Orphanet:141258)
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Tetraamelia - multiple malformations
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(Orphanet:3301)
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Thiamine-responsive encephalopathy
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(Orphanet:199348)
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Thiopurine S-methyltransferase deficiency
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(Orphanet:3315)
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Thoracic dysplasia-hydrocephalus syndrome
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(Orphanet:1861)
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Thoracomelic dysplasia
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(Orphanet:1803)
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Thrombocytopenia - absent radius
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(Orphanet:3320)
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Thrombotic thrombocytopenic purpura
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(Orphanet:54057)
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Thymic aplasia
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(Orphanet:83471)
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Thymic-renal-anal-lung dysplasia
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(Orphanet:3326)
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Thymoma
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(Orphanet:99867)
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Thyrocerebrorenal syndrome
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(Orphanet:3327)
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Tibial hemimelia
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(Orphanet:93322)
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Torg-Winchester syndrome
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(Orphanet:3460)
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Toriello-Carey syndrome
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(Orphanet:3338)
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Tracheobronchomegaly
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(Orphanet:3347)
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Transcobalamin deficiency
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(Orphanet:859)
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Transient bullous dermolysis of the newborn
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(Orphanet:79411)
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Transient erythroblastopenia of childhood
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(Orphanet:98871)
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Transient familial neonatal hyperbilirubinemia
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(Orphanet:2312)
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Tricho-oculo-dermo-vertebral syndrome
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(Orphanet:3354)
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Tricho-odonto-onychial dysplasia
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(Orphanet:3355)
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Trichomegaly - retina pigmentary degeneration - dwarfism
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(Orphanet:3363)
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Trigonocephaly - bifid nose - acral anomalies
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(Orphanet:3368)
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Triple A syndrome
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(Orphanet:869)
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Tropical pancreatitis
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(Orphanet:103918)
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UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE5
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(OMIM:615133)
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UROFACIAL SYNDROME 2
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(OMIM:615112)
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USHER SYNDROME, TYPE IC
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(OMIM:276904)
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USHER SYNDROME, TYPE ID
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(OMIM:601067)
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USHER SYNDROME, TYPE IE
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(OMIM:602097)
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USHER SYNDROME, TYPE IF
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(OMIM:602083)
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USHER SYNDROME, TYPE IG
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(OMIM:606943)
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USHER SYNDROME, TYPE IIC
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(OMIM:605472)
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USHER SYNDROME, TYPE IID
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(OMIM:611383)
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USHER SYNDROME, TYPE IIIB
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(OMIM:614504)
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USHER SYNDROME, TYPE IJ
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(OMIM:614869)
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USHER SYNDROME, TYPE IK
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(OMIM:614990)
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UV-SENSITIVE SYNDROME 2
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(OMIM:614621)
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UV-SENSITIVE SYNDROME 3
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(OMIM:614640)
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UV-sensitive syndrome
|
(Orphanet:178338)
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Ulbright-Hodes syndrome
|
(Orphanet:3404)
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Ulna hypoplasia - intellectual deficit
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(Orphanet:2249)
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Unverricht-Lundborg disease
|
(Orphanet:308)
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Upper limb defect - eye and ear abnormalities
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(Orphanet:2489)
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Urban-Rogers-Meyer syndrome
|
(Orphanet:3409)
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Urocanic aciduria
|
(Orphanet:210128)
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Usher syndrome type 1
|
(Orphanet:231169)
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Usher syndrome type 2
|
(Orphanet:231178)
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Usher syndrome type 3
|
(Orphanet:231183)
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VALINEMIA
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(OMIM:277100)
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VAN BOGAERT-HOZAY SYNDROME
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(OMIM:277150)
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VAN MALDERGEM SYNDROME 2
|
(OMIM:615546)
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
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(OMIM:611938)
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
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(OMIM:614021)
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH ORWITHOUT MUSCLE WEAKNESS
|
(OMIM:615441)
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VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
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(OMIM:219730)
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VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
|
(OMIM:602200)
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VISCERAL STEATOSIS, CONGENITAL
|
(OMIM:228100)
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VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
|
(OMIM:600081)
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VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
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(OMIM:607473)
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VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION
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(OMIM:277465)
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Van den Ende-Gupta syndrome
|
(Orphanet:2460)
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Vici syndrome
|
(Orphanet:1493)
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Vitamin B12-responsive methylmalonic acidemia
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(Orphanet:28)
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Vitamin B12-responsive methylmalonic acidemia type cblB
|
(Orphanet:79311)
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Vitamin B12-unresponsive methylmalonic acidemia
|
(Orphanet:27)
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Von Voss-Cherstvoy syndrome
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(Orphanet:3439)
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Von Willebrand disease type 2
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(Orphanet:166081)
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Von Willebrand disease type 3
|
(Orphanet:166096)
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WAARDENBURG SYNDROME, TYPE 2D
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(OMIM:608890)
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WAARDENBURG SYNDROME, TYPE 4B
|
(OMIM:613265)
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WARBURG MICRO SYNDROME 2
|
(OMIM:614225)
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WARBURG MICRO SYNDROME 3
|
(OMIM:614222)
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WARBURG MICRO SYNDROME 4
|
(OMIM:615663)
|
WEILL-MARCHESANI SYNDROME 3
|
(OMIM:614819)
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WEILL-MARCHESANI-LIKE SYNDROME
|
(OMIM:613195)
|
WERNICKE-KORSAKOFF SYNDROME
|
(OMIM:277730)
|
WHISTLING FACE SYNDROME, RECESSIVE FORM
|
(OMIM:277720)
|
WISKOTT-ALDRICH SYNDROME 2
|
(OMIM:614493)
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WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
|
(OMIM:600903)
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WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS
|
(OMIM:278100)
|
Waardenburg syndrome
|
(Orphanet:3440)
|
Waardenburg-Shah syndrome
|
(Orphanet:897)
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Warsaw breakage syndrome
|
(Orphanet:280558)
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Weill-Marchesani syndrome
|
(Orphanet:3449)
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White forelock with malformations
|
(Orphanet:2475)
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Wiedemann-Rautenstrauch syndrome
|
(Orphanet:3455)
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Wiskott-Aldrich syndrome
|
(Orphanet:906)
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Wrinkly skin syndrome
|
(Orphanet:2834)
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X-linked parkinsonism-spasticity syndrome
|
(Orphanet:363654)
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XK aprosencephaly
|
(Orphanet:3469)
|
XYLOSIDASE DEFICIENCY
|
(OMIM:278900)
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Xeroderma pigmentosum complementation group A
|
(Orphanet:276249)
|
Xeroderma pigmentosum complementation group B
|
(Orphanet:276252)
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Xeroderma pigmentosum complementation group C
|
(Orphanet:276255)
|
Xeroderma pigmentosum complementation group E
|
(Orphanet:276261)
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Xeroderma pigmentosum complementation group F
|
(Orphanet:276264)
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Xeroderma pigmentosum complementation group G
|
(Orphanet:276267)
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Xeroderma pigmentosum variant
|
(Orphanet:90342)
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Xeroderma pigmentosum/Cockayne syndrome complex
|
(Orphanet:220295)
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Young adult-onset distal hereditary motor neuropathy
|
(Orphanet:314485)
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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)
|