15q13.3 microdeletion syndrome
|
(Orphanet:199318)
|
16p13.3 microduplication syndrome
|
(Orphanet:96078)
|
17p11.2 microduplication syndrome
|
(Orphanet:1713)
|
17q11.2 microduplication syndrome
|
(Orphanet:139474)
|
17q12 microdeletion syndrome
|
(Orphanet:261265)
|
17q12 microduplication syndrome
|
(Orphanet:261272)
|
1q21.1 microdeletion syndrome
|
(Orphanet:250989)
|
1q21.1 microduplication syndrome
|
(Orphanet:250994)
|
1q41q42 microdeletion syndrome
|
(Orphanet:250999)
|
22q11.2 deletion syndrome
|
(Orphanet:567)
|
22q11.2 microduplication syndrome
|
(Orphanet:1727)
|
3q13 microdeletion syndrome
|
(Orphanet:1621)
|
3q29 microdeletion syndrome
|
(Orphanet:65286)
|
3q29 microduplication
|
(Orphanet:251038)
|
46,XX testicular disorder of sex development
|
(Orphanet:393)
|
46,XY SEX REVERSAL 5
|
(OMIM:613080)
|
46,XY SEX REVERSAL 6
|
(OMIM:613762)
|
46,XY complete gonadal dysgenesis
|
(Orphanet:242)
|
6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY
|
(OMIM:172150)
|
8q21.11 microdeletion syndrome
|
(Orphanet:284160)
|
ABDUCENS PALSY
|
(OMIM:100200)
|
ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1
|
(OMIM:189980)
|
ACHARD SYNDROME
|
(OMIM:100700)
|
ACHOO SYNDROME
|
(OMIM:100820)
|
ACNE INVERSA, FAMILIAL, 1
|
(OMIM:142690)
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
(OMIM:614613)
|
ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT
|
(OMIM:101840)
|
ACROLEUKOPATHY, SYMMETRIC
|
(OMIM:102000)
|
ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA
|
(OMIM:102100)
|
ACROMIAL DIMPLES
|
(OMIM:102350)
|
ACTH-independent macronodular adrenal hyperplasia
|
(Orphanet:189427)
|
ACTINIC PRURIGOPOLYMORPHIC LIGHT ERUPTION, HEREDITARY
|
(OMIM:174770)
|
ADAMS-OLIVER SYNDROME 3
|
(OMIM:614814)
|
ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO
|
(OMIM:102730)
|
ADENOSINE MONOPHOSPHATE DEAMINASE 1
|
(OMIM:102770)
|
ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
|
(OMIM:102900)
|
ADIE PUPIL
|
(OMIM:103100)
|
ADULT syndrome
|
(Orphanet:978)
|
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
|
(OMIM:615224)
|
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT
|
(OMIM:613506)
|
AICARDI-GOUTIERES SYNDROME 1
|
(OMIM:225750)
|
AINHUM
|
(OMIM:103400)
|
ALOPECIA, FAMILIAL FOCAL
|
(OMIM:104110)
|
ALPHA-2-MACROGLOBULIN DEFICIENCY
|
(OMIM:614036)
|
ALPHA-FETOPROTEIN
|
(OMIM:104150)
|
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
|
(OMIM:614820)
|
ALZHEIMER DISEASE 10
|
(OMIM:609636)
|
ALZHEIMER DISEASE 3
|
(OMIM:607822)
|
ALZHEIMER DISEASE 4
|
(OMIM:606889)
|
ALZHEIMER DISEASE 5
|
(OMIM:602096)
|
ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID ANDPRION PATHOLOGY
|
(OMIM:605055)
|
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
|
(OMIM:104350)
|
AMELOGENESIS IMPERFECTA, TYPE IA
|
(OMIM:104530)
|
AMENORRHEA-GALACTORRHEA SYNDROME
|
(OMIM:104600)
|
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2
|
(OMIM:613955)
|
AMYOTROPHIC DYSTONIC PARAPLEGIA
|
(OMIM:105300)
|
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
(OMIM:612069)
|
AMYOTROPHIC LATERAL SCLEROSIS 11
|
(OMIM:612577)
|
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
(OMIM:613954)
|
AMYOTROPHIC LATERAL SCLEROSIS 17
|
(OMIM:614696)
|
AMYOTROPHIC LATERAL SCLEROSIS 18
|
(OMIM:614808)
|
AMYOTROPHIC LATERAL SCLEROSIS 19
|
(OMIM:615515)
|
AMYOTROPHIC LATERAL SCLEROSIS 20
|
(OMIM:615426)
|
AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
|
(OMIM:608030)
|
AMYOTROPHIC LATERAL SCLEROSIS 8
|
(OMIM:608627)
|
AMYOTROPHIC LATERAL SCLEROSIS 9
|
(OMIM:611895)
|
ANAL CANAL CARCINOMACLOACOGENIC CARCINOMA, INCLUDED
|
(OMIM:105580)
|
ANAL SPHINCTER DYSPLASIA
|
(OMIM:105563)
|
ANAL SPHINCTER MYOPATHY, INTERNAL
|
(OMIM:105565)
|
ANDROSTENONE, ABILITY TO SMELL
|
(OMIM:105570)
|
ANEMIA, SIDEROBLASTIC, AUTOSOMAL DOMINANT
|
(OMIM:182170)
|
ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS
|
(OMIM:600419)
|
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS
|
(OMIM:106190)
|
ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT
|
(OMIM:106230)
|
ANISOCORIA
|
(OMIM:106240)
|
ANKYLOGLOSSIA
|
(OMIM:106280)
|
ANNULAR ERYTHEMA
|
(OMIM:106500)
|
ANONYCHIA-ECTRODACTYLY
|
(OMIM:106900)
|
ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY
|
(OMIM:106990)
|
ANTIPHOSPHOLIPID SYNDROME, FAMILIAL
|
(OMIM:107320)
|
AORTIC VALVE DISEASE 1
|
(OMIM:109730)
|
AORTIC VALVE DISEASE 2
|
(OMIM:614823)
|
APNEA, CENTRAL SLEEP
|
(OMIM:107640)
|
APNEA, OBSTRUCTIVE SLEEP
|
(OMIM:107650)
|
APOCRINE GLAND SECRETION, VARIATION IN
|
(OMIM:117800)
|
APOLIPOPROTEIN A-I
|
(OMIM:107680)
|
APOLIPOPROTEIN A-IV
|
(OMIM:107690)
|
APOLIPOPROTEIN(a)
|
(OMIM:152200)
|
ARMS, MALFORMATION OF
|
(OMIM:107900)
|
ARTERIES, ANOMALIES OF
|
(OMIM:108000)
|
ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS
|
(OMIM:108050)
|
ARTHRITIS, SACROILIAC
|
(OMIM:108100)
|
ARTHROGRYPOSIS, DISTAL, TYPE 2E
|
(OMIM:121070)
|
ASPARAGINE SYNTHETASE
|
(OMIM:108370)
|
ATAXIA WITH FASCICULATIONS
|
(OMIM:108700)
|
ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
|
(OMIM:608984)
|
ATHEROSCLEROSIS SUSCEPTIBILITY
|
(OMIM:108725)
|
ATRIAL FIBRILLATION, FAMILIAL, 14; ATFB14
|
(OMIM:615378)
|
ATRIAL SEPTAL DEFECT 2
|
(OMIM:607941)
|
ATRIAL SEPTAL DEFECT 3
|
(OMIM:614089)
|
ATRIAL SEPTAL DEFECT 4
|
(OMIM:611363)
|
ATRIAL SEPTAL DEFECT 6
|
(OMIM:613087)
|
ATRIAL SEPTAL DEFECT 9
|
(OMIM:614475)
|
ATRIOVENTRICULAR SEPTAL DEFECT 4
|
(OMIM:614430)
|
ATRIOVENTRICULAR SEPTAL DEFECT 5
|
(OMIM:614474)
|
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
|
(OMIM:606217)
|
ATTENTION DEFICIT-HYPERACTIVITY DISORDER
|
(OMIM:143465)
|
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
|
(OMIM:609129)
|
AURAL ATRESIA, CONGENITAL
|
(OMIM:607842)
|
AURICULOCONDYLAR SYNDROME 2
|
(OMIM:614669)
|
AUROCEPHALOSYNDACTYLY
|
(OMIM:109050)
|
AUTISM, SUSCEPTIBILITY TO, 5
|
(OMIM:606053)
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
|
(OMIM:603909)
|
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES
|
(OMIM:109120)
|
AXENFELD-RIEGER SYNDROME, TYPE 2
|
(OMIM:601499)
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
(OMIM:602482)
|
AXIAL OSTEOMALACIA
|
(OMIM:109130)
|
AZOTEMIA, FAMILIAL
|
(OMIM:109160)
|
Aase-Smith syndrome
|
(Orphanet:916)
|
Absence of fingerprints - congenital milia
|
(Orphanet:1658)
|
Absent tibia - polydactyly
|
(Orphanet:988)
|
Acanthosis nigricans
|
(Orphanet:924)
|
Achondrogenesis type 2
|
(Orphanet:93296)
|
Achondroplasia
|
(Orphanet:15)
|
Acro-pectoral syndrome
|
(Orphanet:85203)
|
Acrocallosal syndrome
|
(Orphanet:36)
|
Acrodysostosis with multiple hormone resistance
|
(Orphanet:280651)
|
Acrofacial dysostosis, Weyers type
|
(Orphanet:952)
|
Acrokeratoelastoidosis of Costa
|
(Orphanet:38)
|
Acrokeratosis verruciformis of Hopf
|
(Orphanet:79151)
|
Acromegaloid facial appearance syndrome
|
(Orphanet:965)
|
Acromelic frontonasal dysplasia
|
(Orphanet:1827)
|
Acromicric dysplasia
|
(Orphanet:969)
|
Acroosteolysis, dominant type
|
(Orphanet:955)
|
Acropectorovertebral dysplasia
|
(Orphanet:957)
|
Acute erythroid leukemia
|
(Orphanet:318)
|
Acute intermittent porphyria
|
(Orphanet:79276)
|
Acute myeloid leukemia
|
(Orphanet:519)
|
Acute necrotizing encephalopathy of childhood
|
(Orphanet:263524)
|
Adamantinoma
|
(Orphanet:55881)
|
Adams-Oliver syndrome
|
(Orphanet:974)
|
Addison disease
|
(Orphanet:85138)
|
Adiposis dolorosa
|
(Orphanet:36397)
|
Adult idiopathic neutropenia
|
(Orphanet:2688)
|
Adult hypophosphatasia
|
(Orphanet:247676)
|
Adult-onset autosomal dominant leukodystrophy
|
(Orphanet:99027)
|
Adult-onset foveomacular vitelliform dystrophy
|
(Orphanet:99000)
|
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
|
(Orphanet:313808)
|
Adult-onset proximal spinal muscular atrophy, autosomal dominant
|
(Orphanet:209335)
|
Agnathia - holoprosencephaly - situs inversus
|
(Orphanet:990)
|
Aicardi-Goutières syndrome
|
(Orphanet:51)
|
Alagille syndrome due to 20p12 microdeletion
|
(Orphanet:261600)
|
Alagille syndrome due to a NOTCH2 point mutation
|
(Orphanet:261629)
|
Albers-Schönberg osteopetrosis
|
(Orphanet:53)
|
Albright hereditary osteodystrophy
|
(Orphanet:665)
|
Aldosterone-producing adenoma with seizures and neurological abnormalities
|
(Orphanet:369929)
|
Alexander disease
|
(Orphanet:58)
|
Allergic bronchopulmonary aspergillosis
|
(Orphanet:1164)
|
Alopecia - epilepsy - pyorrhea - intellectual deficit
|
(Orphanet:1008)
|
Alpha-crystallinopathy
|
(Orphanet:98910)
|
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
|
(Orphanet:98791)
|
Alport syndrome
|
(Orphanet:63)
|
Alternating hemiplegia of childhood
|
(Orphanet:2131)
|
Amelo-onycho-hypohidrotic syndrome
|
(Orphanet:1028)
|
Amyotrophic lateral sclerosis
|
(Orphanet:803)
|
Amyotrophic lateral sclerosis type 4
|
(Orphanet:357043)
|
Anemia due to adenosine triphosphatase deficiency
|
(Orphanet:1044)
|
Aneurysm - osteoarthritis syndrome
|
(Orphanet:284984)
|
Angelman syndrome
|
(Orphanet:72)
|
Angioma serpiginosum
|
(Orphanet:95429)
|
Aniridia - absent patella
|
(Orphanet:1069)
|
Ankyloblepharon - ectodermal defects - cleft lip/palate
|
(Orphanet:1071)
|
Ankyloblepharon filiforme adnatum - cleft palate
|
(Orphanet:1072)
|
Ankylosing vertebral hyperostosis with tylosis
|
(Orphanet:2206)
|
Annular epidermolytic ichthyosis
|
(Orphanet:281139)
|
Annular pancreas
|
(Orphanet:675)
|
Anonychia with flexural pigmentation
|
(Orphanet:69125)
|
Anophthalmia/microphthalmia - esophageal atresia
|
(Orphanet:77298)
|
Antecubital pterygium syndrome
|
(Orphanet:2987)
|
Aortic arch anomaly - peculiar facies - intellectual deficit
|
(Orphanet:1110)
|
Apert syndrome
|
(Orphanet:87)
|
Aphalangy - syndactyly - microcephaly
|
(Orphanet:1113)
|
Aplasia of lacrimal and salivary glands
|
(Orphanet:86815)
|
Apolipoprotein A-I deficiency
|
(Orphanet:425)
|
Arachnoid cyst
|
(Orphanet:2356)
|
Arachnoiditis
|
(Orphanet:137817)
|
Arnold-Chiari malformation type I
|
(Orphanet:268882)
|
Aromatase excess syndrome
|
(Orphanet:178345)
|
Arthrogryposis with oculomotor limitation and electroretinal anomalies
|
(Orphanet:1154)
|
Arthrogryposis-like hand anomaly - sensorineural deafness
|
(Orphanet:1144)
|
Ascher syndrome
|
(Orphanet:1253)
|
Ataxia - pancytopenia
|
(Orphanet:2585)
|
Atelosteogenesis type III
|
(Orphanet:56305)
|
Atrial septal defect - atrioventricular conduction defects syndrome
|
(Orphanet:1479)
|
Atrial septal defect, sinus venosus type
|
(Orphanet:99105)
|
Atrioventricular canal defect
|
(Orphanet:98722)
|
Attenuated familial adenomatous polyposis
|
(Orphanet:220460)
|
Atypical Mayer-Rokitansky-Küster-Hauser syndrome
|
(Orphanet:247768)
|
Atypical dentin dysplasia due to SMOC2 deficiency
|
(Orphanet:314721)
|
Atypical hemolytic uremic syndrome
|
(Orphanet:2134)
|
Atypical hemolytic uremic syndrome with B factor anomaly
|
(Orphanet:93578)
|
Atypical hemolytic uremic syndrome with C3 anomaly
|
(Orphanet:93575)
|
Atypical hemolytic uremic syndrome with I factor anomaly
|
(Orphanet:93580)
|
Atypical hemolytic uremic syndrome with MCP/CD46 anomaly
|
(Orphanet:93576)
|
Atypical hemolytic uremic syndrome with thrombomodulin anomaly
|
(Orphanet:217023)
|
Auriculocondylar syndrome
|
(Orphanet:137888)
|
Auriculoosteodysplasia
|
(Orphanet:114)
|
Autoimmune lymphoproliferative syndrome
|
(Orphanet:3261)
|
Autoimmune polyendocrinopathy type 1
|
(Orphanet:3453)
|
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
|
(Orphanet:324530)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
|
(Orphanet:99946)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
|
(Orphanet:99947)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2B
|
(Orphanet:99936)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2C
|
(Orphanet:99937)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2D
|
(Orphanet:99938)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2E
|
(Orphanet:99939)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2F
|
(Orphanet:99940)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2G
|
(Orphanet:99941)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2I
|
(Orphanet:99942)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2J
|
(Orphanet:99943)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2K
|
(Orphanet:99944)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2L
|
(Orphanet:99945)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2N
|
(Orphanet:228174)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2O
|
(Orphanet:284232)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2P
|
(Orphanet:300319)
|
Autosomal dominant Larsen syndrome
|
(Orphanet:503)
|
Autosomal dominant Robinow syndrome
|
(Orphanet:3107)
|
Autosomal dominant aplasia and myelodysplasia
|
(Orphanet:314399)
|
Autosomal dominant beta2-microglobulinic amyloidosis
|
(Orphanet:314652)
|
Autosomal dominant centronuclear myopathy
|
(Orphanet:169189)
|
Autosomal dominant cervical dystonia
|
(Orphanet:93962)
|
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
|
(Orphanet:363454)
|
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
|
(Orphanet:209341)
|
Autosomal dominant chondrodysplasia punctata
|
(Orphanet:79344)
|
Autosomal dominant congenital benign spinal muscular atrophy
|
(Orphanet:1216)
|
Autosomal dominant cutis laxa
|
(Orphanet:90348)
|
Autosomal dominant epilepsy with auditory features
|
(Orphanet:101046)
|
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
|
(Orphanet:73229)
|
Autosomal dominant focal dystonia, DYT25
|
(Orphanet:329466)
|
Autosomal dominant hyper-IgE syndrome
|
(Orphanet:2314)
|
Autosomal dominant hyperinsulinism due to SUR1 deficiency
|
(Orphanet:276575)
|
Autosomal dominant hypohidrotic ectodermal dysplasia
|
(Orphanet:1810)
|
Autosomal dominant hypophosphatemic rickets
|
(Orphanet:89937)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
|
(Orphanet:100043)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
|
(Orphanet:100044)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
|
(Orphanet:100045)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
|
(Orphanet:100046)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
|
(Orphanet:93114)
|
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
|
(Orphanet:352670)
|
Autosomal dominant keratitis
|
(Orphanet:2334)
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
(Orphanet:266)
|
Autosomal dominant limb-girdle muscular dystrophy type 1B
|
(Orphanet:264)
|
Autosomal dominant limb-girdle muscular dystrophy type 1C
|
(Orphanet:265)
|
Autosomal dominant limb-girdle muscular dystrophy type 1D
|
(Orphanet:34516)
|
Autosomal dominant limb-girdle muscular dystrophy type 1F
|
(Orphanet:55595)
|
Autosomal dominant limb-girdle muscular dystrophy type 1G
|
(Orphanet:55596)
|
Autosomal dominant limb-girdle muscular dystrophy type 1H
|
(Orphanet:238755)
|
Autosomal dominant macrothrombocytopenia
|
(Orphanet:140957)
|
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
|
(Orphanet:34149)
|
Autosomal dominant microcephaly
|
(Orphanet:2514)
|
Autosomal dominant multiple pterygium syndrome
|
(Orphanet:65743)
|
Autosomal dominant myoglobinuria
|
(Orphanet:99846)
|
Autosomal dominant nail dysplasia
|
(Orphanet:79153)
|
Autosomal dominant neovascular inflammatory vitreoretinopathy
|
(Orphanet:329211)
|
Autosomal dominant nocturnal frontal lobe epilepsy
|
(Orphanet:98784)
|
Autosomal dominant nonsyndromic intellectual deficit
|
(Orphanet:178469)
|
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
|
(Orphanet:90635)
|
Autosomal dominant optic atrophy and cataract
|
(Orphanet:67036)
|
Autosomal dominant optic atrophy and congenital deafness
|
(Orphanet:3212)
|
Autosomal dominant optic atrophy plus syndrome
|
(Orphanet:1215)
|
Autosomal dominant optic atrophy, classic type
|
(Orphanet:98673)
|
Autosomal dominant osteopetrosis type 1
|
(Orphanet:2783)
|
Autosomal dominant osteosclerosis, Worth type
|
(Orphanet:2790)
|
Autosomal dominant palmoplantar keratoderma and congenital alopecia
|
(Orphanet:1010)
|
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
|
(Orphanet:88924)
|
Autosomal dominant popliteal pterygium syndrome
|
(Orphanet:1300)
|
Autosomal dominant primary hypomagnesemia with hypocalcuria
|
(Orphanet:34528)
|
Autosomal dominant progressive external ophthalmoplegia
|
(Orphanet:254892)
|
Autosomal dominant progressive nephropathy with hypertension
|
(Orphanet:88659)
|
Autosomal dominant rhegmatogenous retinal detachment
|
(Orphanet:209867)
|
Autosomal dominant secondary polycythemia
|
(Orphanet:247511)
|
Autosomal dominant severe congenital neutropenia
|
(Orphanet:486)
|
Autosomal dominant slowed nerve conduction velocity
|
(Orphanet:140481)
|
Autosomal dominant spastic ataxia 1
|
(Orphanet:251282)
|
Autosomal dominant spastic paraplegia type 31
|
(Orphanet:101011)
|
Autosomal dominant spastic paraplegia type 36
|
(Orphanet:320365)
|
Autosomal dominant spastic paraplegia type 37
|
(Orphanet:171612)
|
Autosomal dominant spastic paraplegia type 38
|
(Orphanet:171617)
|
Autosomal dominant spastic paraplegia type 41
|
(Orphanet:320355)
|
Autosomal dominant spastic paraplegia type 42
|
(Orphanet:171863)
|
Autosomal dominant spondylocostal dysostosis
|
(Orphanet:1797)
|
Autosomal dominant striatal neurodegeneration
|
(Orphanet:228169)
|
Autosomal recessive infantile hypercalcemia
|
(Orphanet:300547)
|
Autosomal thrombocytopenia with normal platelets
|
(Orphanet:168629)
|
Axenfeld anomaly
|
(Orphanet:98978)
|
Axenfeld-Rieger syndrome
|
(Orphanet:782)
|
B-cell chronic lymphocytic leukemia
|
(Orphanet:67038)
|
BAP1-related tumor predisposition syndrome
|
(Orphanet:289539)
|
BARAITSER-WINTER SYNDROME 2
|
(OMIM:614583)
|
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
|
(OMIM:615007)
|
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
|
(OMIM:615483)
|
BASAL LAMINAR DRUSEN
|
(OMIM:126700)
|
BEETURIA
|
(OMIM:109600)
|
BLADDER CANCER
|
(OMIM:109800)
|
BLADDER DIVERTICULUM
|
(OMIM:109820)
|
BLEEDING DISORDER, PLATELET-TYPE, 12
|
(OMIM:605735)
|
BLEEDING DISORDER, PLATELET-TYPE, 14
|
(OMIM:614158)
|
BLEEDING DISORDER, PLATELET-TYPE, 15
|
(OMIM:615193)
|
BLEEDING DISORDER, PLATELET-TYPE, 17
|
(OMIM:187900)
|
BLEPHAROCHALASIS, SUPERIOR
|
(OMIM:110000)
|
BLOOD GROUP, DUFFY SYSTEM
|
(OMIM:110700)
|
BLOOD GROUP, P1PK SYSTEMP(1) PHENOTYPE, INCLUDED
|
(OMIM:111400)
|
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18
|
(OMIM:615457)
|
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
|
(OMIM:601884)
|
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
|
(OMIM:613418)
|
BONE PAIN, PERIODIC
|
(OMIM:112270)
|
BOR syndrome
|
(Orphanet:107)
|
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME
|
(OMIM:615722)
|
BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUSADDUCTUS, AND DEVELOPMENTAL DELAY
|
(OMIM:112370)
|
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS
|
(OMIM:610023)
|
BRACHYDACTYLY, TYPE A1, B
|
(OMIM:607004)
|
BRACHYDACTYLY, TYPE A3
|
(OMIM:112700)
|
BRACHYDACTYLY, TYPE D
|
(OMIM:113200)
|
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II
|
(OMIM:113301)
|
BRACHYDACTYLY, TYPE E2
|
(OMIM:613382)
|
BRACHYMETATARSUS IV
|
(OMIM:113475)
|
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
|
(OMIM:609945)
|
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA
|
(OMIM:113610)
|
BRANCHIOOTIC SYNDROME 1
|
(OMIM:602588)
|
BRANCHIOOTIC SYNDROME 3
|
(OMIM:608389)
|
BRANCHIOOTORENAL SYNDROME 2
|
(OMIM:610896)
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
(OMIM:612555)
|
BREATH-HOLDING SPELLS
|
(OMIM:607578)
|
BROAD TERMINAL PHALANGES, FAMILIAL
|
(OMIM:602071)
|
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
|
(OMIM:613021)
|
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
|
(OMIM:613071)
|
BROOKE-SPIEGLER SYNDROME
|
(OMIM:605041)
|
BRUGADA SYNDROME 2
|
(OMIM:611777)
|
BRUGADA SYNDROME 3
|
(OMIM:611875)
|
BRUGADA SYNDROME 4
|
(OMIM:611876)
|
BRUGADA SYNDROME 5
|
(OMIM:612838)
|
BRUGADA SYNDROME 6
|
(OMIM:613119)
|
BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT
|
(OMIM:113950)
|
Ballard syndrome
|
(Orphanet:93395)
|
Banki syndrome
|
(Orphanet:1228)
|
Bannayan-Riley-Ruvalcaba syndrome
|
(Orphanet:109)
|
Baraitser-Winter syndrome
|
(Orphanet:2995)
|
Barber-Say syndrome
|
(Orphanet:1231)
|
Bartter syndrome with hypocalcemia
|
(Orphanet:263417)
|
Becker muscular dystrophy
|
(Orphanet:98895)
|
Beckwith-Wiedemann syndrome
|
(Orphanet:116)
|
Behavioral variant of frontotemporal dementia
|
(Orphanet:275864)
|
Bencze syndrome
|
(Orphanet:1241)
|
Benign adult familial myoclonic epilepsy
|
(Orphanet:86814)
|
Benign concentric annular macular dystrophy
|
(Orphanet:251287)
|
Benign familial chorea
|
(Orphanet:1429)
|
Benign familial infantile seizures
|
(Orphanet:306)
|
Benign familial mesial temporal lobe epilepsy
|
(Orphanet:163717)
|
Benign familial neonatal seizures
|
(Orphanet:1949)
|
Benign familial neonatal-infantile seizures
|
(Orphanet:140927)
|
Benign occipital epilepsy
|
(Orphanet:25968)
|
Benign paroxysmal tonic upgaze of childhood with ataxia
|
(Orphanet:1179)
|
Bernard-Soulier syndrome
|
(Orphanet:274)
|
Best vitelliform macular dystrophy
|
(Orphanet:1243)
|
Bethlem myopathy
|
(Orphanet:610)
|
Bifid nose
|
(Orphanet:2695)
|
Bilateral frontal polymicrogyria
|
(Orphanet:208444)
|
Bilateral microtia - deafness - cleft palate
|
(Orphanet:140963)
|
Bilateral renal agenesis
|
(Orphanet:1848)
|
Bilateral striopallidodentate calcinosis
|
(Orphanet:1980)
|
Birt-Hogg-Dube syndrome
|
(Orphanet:122)
|
Blackfan-Diamond anemia
|
(Orphanet:124)
|
Bladder exstrophy
|
(Orphanet:93930)
|
Blau syndrome
|
(Orphanet:90340)
|
Bleeding diathesis due to a collagen receptor defect
|
(Orphanet:73271)
|
Bleeding diathesis due to thromboxane synthesis deficiency
|
(Orphanet:220443)
|
Blepharo-cheilo-odontic syndrome
|
(Orphanet:1997)
|
Blepharonasofacial malformation syndrome
|
(Orphanet:1252)
|
Blepharophimosis - epicanthus inversus - ptosis
|
(Orphanet:126)
|
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency
|
(Orphanet:329255)
|
Blepharophimosis-intellectual deficit syndrome, Ohdo type
|
(Orphanet:2728)
|
Blepharoptosis - myopia - ectopia lentis
|
(Orphanet:1259)
|
Blount disease
|
(Orphanet:2768)
|
Blue rubber bleb nevus
|
(Orphanet:1059)
|
Bohring-Opitz syndrome
|
(Orphanet:97297)
|
Boomerang dysplasia
|
(Orphanet:1263)
|
Brachydactyly - arterial hypertension
|
(Orphanet:1276)
|
Brachydactyly - elbow wrist dysplasia
|
(Orphanet:1275)
|
Brachydactyly - preaxial hallux varus
|
(Orphanet:1278)
|
Brachydactyly type A1
|
(Orphanet:93388)
|
Brachydactyly type A2
|
(Orphanet:93396)
|
Brachydactyly type A4
|
(Orphanet:93394)
|
Brachydactyly type A6
|
(Orphanet:93382)
|
Brachydactyly type B
|
(Orphanet:93383)
|
Brachydactyly type B2
|
(Orphanet:140908)
|
Brachydactyly type C
|
(Orphanet:93384)
|
Brachydactyly type E
|
(Orphanet:93387)
|
Brachydactyly-long thumb syndrome
|
(Orphanet:2946)
|
Brachymorphism - onychodysplasia - dysphalangism
|
(Orphanet:1292)
|
Brachyolmia
|
(Orphanet:1293)
|
Brachytelephalangy - dysmorphism - Kallmann syndrome
|
(Orphanet:1295)
|
Brain demyelination due to methionine adenosyltransferase deficiency
|
(Orphanet:168598)
|
Brain-lung-thyroid syndrome
|
(Orphanet:209905)
|
Branchio-oculo-facial syndrome
|
(Orphanet:1297)
|
Branchio-otic syndrome
|
(Orphanet:52429)
|
Branchiogenic deafness syndrome
|
(Orphanet:50815)
|
Butterfly-shaped pigment dystrophy
|
(Orphanet:99001)
|
Böök syndrome
|
(Orphanet:1262)
|
C3 glomerulonephritis
|
(Orphanet:329931)
|
C3HEX, ABILITY TO SMELL
|
(OMIM:615082)
|
CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL
|
(OMIM:114065)
|
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III
|
(OMIM:611929)
|
CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE
|
(OMIM:114450)
|
CANDIDIASIS, FAMILIAL, 3
|
(OMIM:607644)
|
CANDIDIASIS, FAMILIAL, 6
|
(OMIM:613956)
|
CANINE TEETH, ABSENCE OF UPPER PERMANENT
|
(OMIM:114600)
|
CAR FACTOR DEFICIENCY
|
(OMIM:114650)
|
CARBOXYLESTERASE 1
|
(OMIM:114835)
|
CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5
|
(OMIM:114890)
|
CARDIAC ARRHYTHMIA
|
(OMIM:115000)
|
CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED
|
(OMIM:115080)
|
CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES
|
(OMIM:600987)
|
CARDIOFACIOCUTANEOUS SYNDROME 2
|
(OMIM:615278)
|
CARPAL DISPLACEMENT
|
(OMIM:115400)
|
CARPAL TUNNEL SYNDROME
|
(OMIM:115430)
|
CATARACT 11, MULTIPLE TYPES
|
(OMIM:610623)
|
CATARACT 14, MULTIPLE TYPES
|
(OMIM:601885)
|
CATARACT 15, MULTIPLE TYPES
|
(OMIM:615274)
|
CATARACT 16, MULTIPLE TYPES
|
(OMIM:613763)
|
CATARACT 2, MULTIPLE TYPES
|
(OMIM:604307)
|
CATARACT 21, MULTIPLE TYPES
|
(OMIM:610202)
|
CATARACT 23
|
(OMIM:610425)
|
CATARACT 24
|
(OMIM:601202)
|
CATARACT 29
|
(OMIM:115800)
|
CATARACT 3, MULTIPLE TYPES
|
(OMIM:601547)
|
CATARACT 30
|
(OMIM:116300)
|
CATARACT 31, MULTIPLE TYPES
|
(OMIM:605387)
|
CATARACT 37
|
(OMIM:614422)
|
CATARACT 39, MULTIPLE TYPES
|
(OMIM:615188)
|
CATARACT 41
|
(OMIM:116400)
|
CATARACT 42
|
(OMIM:115900)
|
CATARACT 43
|
(OMIM:616279)
|
CATARACT 5, MULTIPLE TYPES
|
(OMIM:116800)
|
CATARACT 6, MULTIPLE TYPES
|
(OMIM:116600)
|
CATARACT 9, MULTIPLE TYPES
|
(OMIM:604219)
|
CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
|
(OMIM:607674)
|
CATARACT, TOTAL CONGENITAL
|
(OMIM:116700)
|
CATATRICHY
|
(OMIM:116850)
|
CD3 ANTIGEN, EPSILON SUBUNIT
|
(OMIM:186830)
|
CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENTOF DIAPHRAGM
|
(OMIM:116870)
|
CEREBRAL CAVERNOUS MALFORMATIONS 2
|
(OMIM:603284)
|
CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS
|
(OMIM:117850)
|
CERVICAL RIB
|
(OMIM:117900)
|
CERVICAL VERTEBRAL BRIDGE
|
(OMIM:118000)
|
CERVICAL VERTEBRAL DYSPLASIA
|
(OMIM:118005)
|
CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM
|
(OMIM:118301)
|
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
|
(OMIM:118230)
|
CHARGE syndrome
|
(Orphanet:138)
|
CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS
|
(OMIM:118350)
|
CHILBLAIN LUPUS 2
|
(OMIM:614415)
|
CHLORPROPAMIDE-ALCOHOL FLUSHING
|
(OMIM:118430)
|
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
|
(OMIM:614972)
|
CHONDROCALCINOSIS 1
|
(OMIM:600668)
|
CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION
|
(OMIM:118610)
|
CHOREOATHETOSIS, FAMILIAL INVERTED
|
(OMIM:118750)
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
|
(OMIM:613105)
|
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3
|
(OMIM:613144)
|
CHROMOSOME 15q11.2 DELETION SYNDROME
|
(OMIM:615656)
|
CHROMOSOME 17p13.1 DELETION SYNDROME
|
(OMIM:613776)
|
CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME
|
(OMIM:612576)
|
CHROMOSOME 2q31.1 DUPLICATION SYNDROME
|
(OMIM:613681)
|
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME
|
(OMIM:613603)
|
CHST3-related skeletal dysplasia
|
(Orphanet:263463)
|
CLEFT CHIN
|
(OMIM:119000)
|
CLN4B disease
|
(Orphanet:228343)
|
CLUSTER HEADACHE, FAMILIAL
|
(OMIM:119915)
|
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
|
(OMIM:614306)
|
COLOBOMA OF MACULA
|
(OMIM:120300)
|
COLONIC VARICES WITHOUT PORTAL HYPERTENSION
|
(OMIM:120440)
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2
|
(OMIM:609310)
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
(OMIM:614337)
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
|
(OMIM:614350)
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
|
(OMIM:614331)
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
|
(OMIM:614385)
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
|
(OMIM:612591)
|
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
|
(OMIM:615083)
|
COMEDONES, FAMILIAL DYSKERATOTIC
|
(OMIM:120450)
|
COMMISSURAL LIP PITS
|
(OMIM:120500)
|
CONE DYSTROPHY 3
|
(OMIM:602093)
|
CONE-ROD DYSTROPHY 1
|
(OMIM:600624)
|
CONE-ROD DYSTROPHY 11
|
(OMIM:610381)
|
CONE-ROD DYSTROPHY 12
|
(OMIM:612657)
|
CONE-ROD DYSTROPHY 17
|
(OMIM:615163)
|
CONE-ROD DYSTROPHY 5
|
(OMIM:600977)
|
CONE-ROD DYSTROPHY 6
|
(OMIM:601777)
|
CONE-ROD DYSTROPHY 7
|
(OMIM:603649)
|
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO
|
(OMIM:610805)
|
CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA
|
(OMIM:608484)
|
CORACOCLAVICULAR JOINT, ANOMALOUS
|
(OMIM:121350)
|
CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS
|
(OMIM:121390)
|
CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS
|
(OMIM:121450)
|
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
|
(OMIM:610158)
|
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
|
(OMIM:615523)
|
CORNEAL DYSTROPHY, LATTICE TYPE IIIA
|
(OMIM:608471)
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
|
(OMIM:609140)
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3
|
(OMIM:609141)
|
CORNELIA DE LANGE SYNDROME 4
|
(OMIM:614701)
|
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
|
(OMIM:608320)
|
CORONARY ARTERY DISSECTION, SPONTANEOUS
|
(OMIM:122455)
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
|
(OMIM:615282)
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
|
(OMIM:615411)
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
|
(OMIM:615412)
|
CORTISONE REDUCTASE DEFICIENCY 2
|
(OMIM:614662)
|
COUMARIN RESISTANCE
|
(OMIM:122700)
|
COWDEN SYNDROME 2
|
(OMIM:612359)
|
COWDEN SYNDROME 5
|
(OMIM:615108)
|
COWDEN SYNDROME 6
|
(OMIM:615109)
|
COXA VARA
|
(OMIM:122750)
|
CRANIOACROFACIAL SYNDROME
|
(OMIM:122850)
|
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
|
(OMIM:614195)
|
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
|
(OMIM:615529)
|
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS
|
(OMIM:608279)
|
CREATINE PHOSPHOKINASE, ELEVATED SERUM
|
(OMIM:123320)
|
CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY
|
(OMIM:123540)
|
CRYPTOTIA, FAMILIAL
|
(OMIM:123557)
|
CRYSTALLIN, MU
|
(OMIM:123740)
|
CUTIS LAXA, AUTOSOMAL DOMINANT 2
|
(OMIM:614434)
|
CYCLIN-DEPENDENT KINASE 11B
|
(OMIM:176873)
|
CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1
|
(OMIM:108330)
|
CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2
|
(OMIM:124060)
|
Caffey disease
|
(Orphanet:1310)
|
Calvarial doughnut lesions - bone fragility
|
(Orphanet:85192)
|
Campomelic dysplasia
|
(Orphanet:140)
|
Camptobrachydactyly
|
(Orphanet:1319)
|
Camptodactyly - tall stature - scoliosis - hearing loss
|
(Orphanet:85164)
|
Camptodactyly of fingers
|
(Orphanet:295016)
|
Camurati-Engelmann disease
|
(Orphanet:1328)
|
Cap myopathy
|
(Orphanet:171881)
|
Capillary malformation - arteriovenous malformation
|
(Orphanet:137667)
|
Carcinoid tumor and carcinoid syndrome
|
(Orphanet:100093)
|
Cardiac arrhythmia, ankyrin-B-related
|
(OMIM:600919)
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
Cardiospondylocarpofacial syndrome
|
(Orphanet:3238)
|
Caroli disease
|
(Orphanet:53035)
|
Carpotarsal osteochondromatosis
|
(Orphanet:2767)
|
Cat-eye syndrome
|
(Orphanet:195)
|
Cataract - aberrant oral frenula - growth delay
|
(Orphanet:1373)
|
Cataract with Y-shaped suture opacities
|
(Orphanet:98985)
|
Cataract, Coppock-like
|
(Orphanet:98986)
|
Cataract-microcornea syndrome
|
(Orphanet:1377)
|
Catecholaminergic polymorphic ventricular tachycardia
|
(Orphanet:3286)
|
Cavernous hemangiomas of face - supraumbilical midline raphe
|
(Orphanet:2124)
|
Central diabetes insipidus
|
(Orphanet:178029)
|
Central precocious puberty
|
(Orphanet:759)
|
Cerebellar ataxia-deafness-narcolepsy syndrome
|
(Orphanet:314404)
|
Cerebral arteriovenous malformation
|
(Orphanet:46724)
|
Cerebro-costo-mandibular syndrome
|
(Orphanet:1393)
|
Cerebro-oculo-nasal syndrome
|
(Orphanet:66625)
|
Char syndrome
|
(Orphanet:46627)
|
Charcot-Marie-Tooth disease type 1A
|
(Orphanet:101081)
|
Charcot-Marie-Tooth disease type 1B
|
(Orphanet:101082)
|
Charcot-Marie-Tooth disease type 1C
|
(Orphanet:101083)
|
Charcot-Marie-Tooth disease type 1D
|
(Orphanet:101084)
|
Charcot-Marie-Tooth disease type 1E
|
(Orphanet:90658)
|
Charcot-Marie-Tooth disease type 1F
|
(Orphanet:101085)
|
Charcot-Marie-Tooth disease type 4E
|
(Orphanet:99951)
|
Cheilitis glandularis
|
(Orphanet:1221)
|
Cherubism
|
(Orphanet:184)
|
Chilblain lupus
|
(Orphanet:90280)
|
Childhood absence epilepsy
|
(Orphanet:64280)
|
Childhood apraxia of speech
|
(Orphanet:209908)
|
Cholesterol-ester transfer protein deficiency
|
(Orphanet:79506)
|
Chondrodysplasia punctata, tibial-metacarpal type
|
(Orphanet:79346)
|
Chordoma
|
(Orphanet:178)
|
Chorioretinopathy, Birdshot type
|
(Orphanet:179)
|
Chronic diarrhea due to guanylate cyclase 2C overactivity
|
(Orphanet:314373)
|
Chronic mucocutaneous candidiasis
|
(Orphanet:1334)
|
Chronic respiratory distress with surfactant metabolism deficiency
|
(Orphanet:217566)
|
Circumscribed cutaneous aplasia of the vertex
|
(Orphanet:1114)
|
Classic Mayer-Rokitansky-Küster-Hauser syndrome
|
(Orphanet:247775)
|
Classical progressive supranuclear palsy
|
(Orphanet:240071)
|
Cleft palate
|
(Orphanet:2014)
|
Cleft palate - large ears - small head
|
(Orphanet:2013)
|
Cleft palate-lateral synechia syndrome
|
(Orphanet:2016)
|
Cleft velum
|
(Orphanet:99772)
|
Cleidocranial dysplasia
|
(Orphanet:1452)
|
Cleidorhizomelic syndrome
|
(Orphanet:1453)
|
Clonic hemifacial spasm
|
(Orphanet:221083)
|
Cochleosaccular degeneration - cataract
|
(Orphanet:3233)
|
Cole-Carpenter syndrome
|
(Orphanet:2050)
|
Coloboma of choroid and retina
|
(Orphanet:98942)
|
Coloboma of macula - brachydactyly type B
|
(Orphanet:1471)
|
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
|
(Orphanet:363741)
|
Common hereditary elliptocytosis
|
(Orphanet:98864)
|
Common variable immunodeficiency
|
(Orphanet:1572)
|
Cone rod dystrophy
|
(Orphanet:1872)
|
Congenital Horner syndrome
|
(Orphanet:91413)
|
Congenital absence/hypoplasia of fingers excluding thumb
|
(Orphanet:294990)
|
Congenital anonychia
|
(Orphanet:79143)
|
Congenital cataract, Volkmann type
|
(Orphanet:98983)
|
Congenital contractural arachnodactyly
|
(Orphanet:115)
|
Congenital cornea plana
|
(Orphanet:53691)
|
Congenital dyserythropoietic anemia type III
|
(Orphanet:98870)
|
Congenital dyserythropoietic anemia type IV
|
(Orphanet:293825)
|
Congenital factor XI deficiency
|
(Orphanet:329)
|
Congenital fiber-type disproportion myopathy
|
(Orphanet:2020)
|
Congenital fibrosis of extraocular muscles
|
(Orphanet:45358)
|
Congenital generalized hypertrichosis, Ambras type
|
(Orphanet:1023)
|
Congenital hereditary endothelial dystrophy type I
|
(Orphanet:98975)
|
Congenital hereditary facial paralysis with variable hearing loss
|
(Orphanet:306530)
|
Congenital laryngeal web
|
(Orphanet:2374)
|
Congenital laryngomalacia
|
(Orphanet:2373)
|
Congenital lobar emphysema
|
(Orphanet:1928)
|
Congenital macroglossia
|
(Orphanet:2430)
|
Congenital microcoria
|
(Orphanet:566)
|
Congenital muscular dystrophy due to LMNA mutation
|
(Orphanet:157973)
|
Congenital muscular dystrophy, Ullrich type
|
(Orphanet:75840)
|
Congenital myopathy with internal nuclei and atypical cores
|
(Orphanet:319160)
|
Congenital onychodysplasia
|
(Orphanet:79144)
|
Congenital plasminogen activator inhibitor type 1 deficiency
|
(Orphanet:465)
|
Congenital pseudoarthrosis of clavicle
|
(Orphanet:66630)
|
Congenital ptosis
|
(Orphanet:91411)
|
Congenital reticular ichthyosiform erythroderma
|
(Orphanet:281190)
|
Congenital stationary night blindness
|
(Orphanet:215)
|
Congenital stromal corneal dystrophy
|
(Orphanet:101068)
|
Congenital total pulmonary venous return anomaly
|
(Orphanet:99125)
|
Congenital trigeminal anesthesia
|
(Orphanet:231013)
|
Congenital unilateral hypoplasia of depressor anguli oris
|
(Orphanet:1166)
|
Congenital vertical talus
|
(Orphanet:178382)
|
Congenitally short costocoracoid ligament
|
(Orphanet:2391)
|
Cooks syndrome
|
(Orphanet:1487)
|
Corneal anesthesia - deafness - intellectual deficit
|
(Orphanet:1051)
|
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
|
(Orphanet:352662)
|
Cornelia de Lange syndrome
|
(Orphanet:199)
|
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
|
(Orphanet:94062)
|
Corticosteroid-binding globulin deficiency
|
(Orphanet:199247)
|
Costello syndrome
|
(Orphanet:3071)
|
Cowden syndrome
|
(Orphanet:201)
|
Coxo-podo-patellar syndrome
|
(Orphanet:1509)
|
Craniodiaphyseal dysplasia
|
(Orphanet:1513)
|
Craniofacial-deafness-hand syndrome
|
(Orphanet:1529)
|
Craniometaphyseal dysplasia
|
(Orphanet:1522)
|
Craniorhiny
|
(Orphanet:157832)
|
Craniosynostosis - Dandy-Walker malformation - hydrocephalus
|
(Orphanet:1538)
|
Craniosynostosis, Philadelphia type
|
(Orphanet:1527)
|
Creutzfeldt-Jakob disease
|
(Orphanet:204)
|
Crouzon disease
|
(Orphanet:207)
|
Cryoglobulinemic vasculitis
|
(Orphanet:91138)
|
Cryptomicrotia - brachydactyly - excess fingertip arch
|
(Orphanet:1547)
|
Currarino triad
|
(Orphanet:1552)
|
Cutis gyrata - acanthosis nigricans - craniosynostosis
|
(Orphanet:1555)
|
Cutis laxa-Marfanoid syndrome
|
(Orphanet:171719)
|
Cyclic neutropenia
|
(Orphanet:2686)
|
Cystoid macular dystrophy
|
(Orphanet:75381)
|
Czech dysplasia, metatarsal type
|
(Orphanet:137678)
|
D-2-@HYDROXYGLUTARIC ACIDURIA 2
|
(OMIM:613657)
|
DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT
|
(OMIM:609222)
|
DARWINIAN TUBERCLE OF PINNA
|
(OMIM:124300)
|
DARWINIAN TUBERCLE OF PINNA
|
(OMIM:124400)
|
DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA
|
(OMIM:125050)
|
DEAFNESS, AUTOSOMAL DOMINANT 10
|
(OMIM:601316)
|
DEAFNESS, AUTOSOMAL DOMINANT 11
|
(OMIM:601317)
|
DEAFNESS, AUTOSOMAL DOMINANT 12
|
(OMIM:601543)
|
DEAFNESS, AUTOSOMAL DOMINANT 13
|
(OMIM:601868)
|
DEAFNESS, AUTOSOMAL DOMINANT 15
|
(OMIM:602459)
|
DEAFNESS, AUTOSOMAL DOMINANT 16
|
(OMIM:603964)
|
DEAFNESS, AUTOSOMAL DOMINANT 17
|
(OMIM:603622)
|
DEAFNESS, AUTOSOMAL DOMINANT 18
|
(OMIM:606012)
|
DEAFNESS, AUTOSOMAL DOMINANT 20
|
(OMIM:604717)
|
DEAFNESS, AUTOSOMAL DOMINANT 21
|
(OMIM:607017)
|
DEAFNESS, AUTOSOMAL DOMINANT 23
|
(OMIM:605192)
|
DEAFNESS, AUTOSOMAL DOMINANT 25
|
(OMIM:605583)
|
DEAFNESS, AUTOSOMAL DOMINANT 28
|
(OMIM:608641)
|
DEAFNESS, AUTOSOMAL DOMINANT 2A
|
(OMIM:600101)
|
DEAFNESS, AUTOSOMAL DOMINANT 2B
|
(OMIM:612644)
|
DEAFNESS, AUTOSOMAL DOMINANT 31
|
(OMIM:608645)
|
DEAFNESS, AUTOSOMAL DOMINANT 33
|
(OMIM:614211)
|
DEAFNESS, AUTOSOMAL DOMINANT 36
|
(OMIM:606705)
|
DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
|
(OMIM:605594)
|
DEAFNESS, AUTOSOMAL DOMINANT 3A
|
(OMIM:601544)
|
DEAFNESS, AUTOSOMAL DOMINANT 3B
|
(OMIM:612643)
|
DEAFNESS, AUTOSOMAL DOMINANT 44
|
(OMIM:607453)
|
DEAFNESS, AUTOSOMAL DOMINANT 48
|
(OMIM:607841)
|
DEAFNESS, AUTOSOMAL DOMINANT 49
|
(OMIM:608372)
|
DEAFNESS, AUTOSOMAL DOMINANT 4A
|
(OMIM:600652)
|
DEAFNESS, AUTOSOMAL DOMINANT 4B
|
(OMIM:614614)
|
DEAFNESS, AUTOSOMAL DOMINANT 5
|
(OMIM:600994)
|
DEAFNESS, AUTOSOMAL DOMINANT 50
|
(OMIM:613074)
|
DEAFNESS, AUTOSOMAL DOMINANT 51
|
(OMIM:613558)
|
DEAFNESS, AUTOSOMAL DOMINANT 52
|
(OMIM:607683)
|
DEAFNESS, AUTOSOMAL DOMINANT 54
|
(OMIM:615649)
|
DEAFNESS, AUTOSOMAL DOMINANT 56
|
(OMIM:615629)
|
DEAFNESS, AUTOSOMAL DOMINANT 58
|
(OMIM:615654)
|
DEAFNESS, AUTOSOMAL DOMINANT 6
|
(OMIM:600965)
|
DEAFNESS, AUTOSOMAL DOMINANT 64
|
(OMIM:614152)
|
DEAFNESS, AUTOSOMAL DOMINANT 65
|
(OMIM:616044)
|
DEAFNESS, AUTOSOMAL DOMINANT 67
|
(OMIM:616340)
|
DEAFNESS, AUTOSOMAL DOMINANT 7
|
(OMIM:601412)
|
DEAFNESS, AUTOSOMAL DOMINANT 9
|
(OMIM:601369)
|
DEAFNESS, AUTOSOMAL RECESSIVE 16
|
(OMIM:603720)
|
DEAFNESS, MID-TONE NEURAL
|
(OMIM:124700)
|
DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE
|
(OMIM:124950)
|
DEAFNESS, UNILATERAL
|
(OMIM:125000)
|
DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS
|
(OMIM:612097)
|
DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF
|
(OMIM:125260)
|
DEIODINASE, IODOTHYRONINE, TYPE I
|
(OMIM:147892)
|
DEMENTIA, LEWY BODY
|
(OMIM:127750)
|
DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES
|
(OMIM:125320)
|
DENS EVAGINATUS
|
(OMIM:125280)
|
DENS IN DENTE AND PALATAL INVAGINATIONS
|
(OMIM:125300)
|
DERMAL RIDGES, NELSON SYNDROME
|
(OMIM:125530)
|
DERMAL RIDGES, PATTERNLESS
|
(OMIM:125540)
|
DERMAL RIDGES-OFF-THE-END
|
(OMIM:125550)
|
DERMATITIS, ATOPIC
|
(OMIM:603165)
|
DERMATOGLYPHICS--ARCH ON ANY DIGIT
|
(OMIM:125570)
|
DERMATOGLYPHICS--FINGERPRINT PATTERN
|
(OMIM:125590)
|
DERMODISTORTIVE URTICARIA
|
(OMIM:125630)
|
DERMOGRAPHISM, FAMILIAL
|
(OMIM:125635)
|
DEVELOPMENTAL DYSPLASIA OF THE HIP 2
|
(OMIM:615612)
|
DIABETES MELLITUS, NONINSULIN-DEPENDENT
|
(OMIM:125853)
|
DIAMOND-BLACKFAN ANEMIA 12
|
(OMIM:615550)
|
DIAMOND-BLACKFAN ANEMIA 13
|
(OMIM:615909)
|
DIAMOND-BLACKFAN ANEMIA 3
|
(OMIM:610629)
|
DIAMOND-BLACKFAN ANEMIA 4
|
(OMIM:612527)
|
DIAMOND-BLACKFAN ANEMIA 6
|
(OMIM:612561)
|
DIAMOND-BLACKFAN ANEMIA 7
|
(OMIM:612562)
|
DIAMOND-BLACKFAN ANEMIA 8
|
(OMIM:612563)
|
DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA
|
(OMIM:612198)
|
DIASTEMA, DENTAL MEDIAL
|
(OMIM:125900)
|
DIGITOTALAR DYSMORPHISM
|
(OMIM:126050)
|
DILUTION, PIGMENTARY
|
(OMIM:126070)
|
DIMPLES, FACIAL
|
(OMIM:126100)
|
DIPEPTIDASE 1
|
(OMIM:179780)
|
DISCOID FIBROMAS, FAMILIAL MULTIPLE
|
(OMIM:190340)
|
DISCRIMINATION, TWO-POINT, REDUCTION IN
|
(OMIM:126180)
|
DISTAL OSTEOSCLEROSIS
|
(OMIM:126250)
|
DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERALVASCULATURE
|
(OMIM:126320)
|
DOUBLE NAIL FOR FIFTH TOE
|
(OMIM:126500)
|
DOWLING-DEGOS DISEASE 2
|
(OMIM:615327)
|
DOWLING-DEGOS DISEASE 3
|
(OMIM:615674)
|
DOWLING-DEGOS DISEASE 4
|
(OMIM:615696)
|
DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE
|
(OMIM:612666)
|
DUANE RETRACTION SYNDROME 2
|
(OMIM:604356)
|
DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION
|
(OMIM:126840)
|
DUODENAL ULCER, HYPERPEPSINOGENEMIC I
|
(OMIM:126850)
|
DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES
|
(OMIM:127200)
|
DWARFISM WITH TALL VERTEBRAE
|
(OMIM:126950)
|
DWARFISM, LEVI TYPE
|
(OMIM:127100)
|
DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLASTHETEROCHROMATIN
|
(OMIM:603529)
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
|
(OMIM:613989)
|
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
|
(OMIM:613990)
|
DYSLEXIA, SUSCEPTIBILITY TO, 1
|
(OMIM:127700)
|
DYSLEXIA, SUSCEPTIBILITY TO, 8
|
(OMIM:608995)
|
DYSTELEPHALANGY
|
(OMIM:128000)
|
DYSTONIA 15, MYOCLONIC
|
(OMIM:607488)
|
DYSTONIA 23
|
(OMIM:614860)
|
DYSTONIA 24
|
(OMIM:615034)
|
Dacryocystitis - osteopoikilosis
|
(Orphanet:1562)
|
Darier disease
|
(Orphanet:218)
|
Deafness - ear malformation - facial palsy
|
(Orphanet:3232)
|
Deafness - lymphedema - leukemia
|
(Orphanet:3226)
|
Deafness - onychodystrophy
|
(Orphanet:3231)
|
Deafness, autosomal dominant 41
|
(OMIM:608224)
|
Deafness-craniofacial syndrome
|
(Orphanet:3241)
|
Dehydrated hereditary stomatocytosis
|
(Orphanet:3202)
|
Dejerine-Sottas syndrome
|
(Orphanet:64748)
|
Delayed speech - facial asymmetry - strabismus - ear lobe creases
|
(Orphanet:3038)
|
Delta-beta-thalassemia
|
(Orphanet:231237)
|
Dentatorubral pallidoluysian atrophy
|
(Orphanet:101)
|
Dentin dysplasia - sclerotic bones
|
(Orphanet:99792)
|
Dentin dysplasia type II
|
(Orphanet:99791)
|
Dentinogenesis imperfecta type 2
|
(Orphanet:166260)
|
Dentinogenesis imperfecta type 3
|
(Orphanet:166265)
|
Denys-Drash syndrome
|
(Orphanet:220)
|
Dermatitis herpetiformis
|
(Orphanet:1656)
|
Dermatopathia pigmentosa reticularis
|
(Orphanet:86920)
|
Dermo-odonto dysplasia
|
(Orphanet:1660)
|
Desmoid tumor
|
(Orphanet:873)
|
Developmental malformations - deafness - dystonia
|
(Orphanet:79107)
|
Diaphyseal medullary stenosis - bone malignancy
|
(Orphanet:85182)
|
Diffuse palmoplantar keratoderma with painful fissures
|
(Orphanet:369999)
|
Digitotalar dysmorphism
|
(Orphanet:1146)
|
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
(Orphanet:2229)
|
Dislocation of the hip - dysmorphism
|
(Orphanet:2412)
|
Disseminated superficial actinic porokeratosis
|
(Orphanet:79152)
|
Distal arthrogryposis type 10
|
(Orphanet:251515)
|
Distal hereditary motor neuropathy type 1
|
(Orphanet:139518)
|
Distal hereditary motor neuropathy type 2
|
(Orphanet:139525)
|
Distal hereditary motor neuropathy type 5
|
(Orphanet:139536)
|
Distal hereditary motor neuropathy type 7
|
(Orphanet:139589)
|
Distal limb deficiencies - micrognathia syndrome
|
(Orphanet:1307)
|
Distal monosomy 10q
|
(Orphanet:96148)
|
Distal monosomy 1q
|
(Orphanet:36367)
|
Distal monosomy 3p
|
(Orphanet:1620)
|
Distal myopathy with early respiratory muscle involvement
|
(Orphanet:34521)
|
Distal myopathy with posterior leg and anterior hand involvement
|
(Orphanet:63273)
|
Distal myopathy with vocal cord weakness
|
(Orphanet:600)
|
Distal myopathy, Welander type
|
(Orphanet:603)
|
Distal renal tubular acidosis
|
(Orphanet:18)
|
Distal symphalangism
|
(Orphanet:3248)
|
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
|
(Orphanet:244305)
|
Double uterus - hemivagina - renal agenesis
|
(Orphanet:3411)
|
Dowling-Degos disease
|
(Orphanet:79145)
|
Dravet syndrome
|
(Orphanet:33069)
|
Duane retraction syndrome
|
(Orphanet:233)
|
Dyschromatosis universalis
|
(Orphanet:241)
|
Dyskeratosis congenita
|
(Orphanet:1775)
|
Dysmorphism - conductive hearing loss - heart defect
|
(Orphanet:289553)
|
Dysostosis, Stanescu type
|
(Orphanet:1798)
|
Dystrophic epidermolysis bullosa pruriginosa
|
(Orphanet:89843)
|
EAR ANTITRAGUS, TAG AT BASE OF
|
(OMIM:128290)
|
EAR EXOSTOSES
|
(OMIM:128300)
|
EAR FOLDING
|
(OMIM:128500)
|
EAR MALFORMATION
|
(OMIM:128600)
|
EAR PITS, POSTERIOR HELICAL
|
(OMIM:128710)
|
EARLOBE CREASE
|
(OMIM:128950)
|
EARRING HOLES, NATURAL
|
(OMIM:129000)
|
EARS, ABILITY TO MOVE
|
(OMIM:129100)
|
ECHO VIRUS 11 SENSITIVITY
|
(OMIM:129150)
|
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALDOMINANT
|
(OMIM:614940)
|
ECTODERMAL DYSPLASIA WITH ADRENAL CYST
|
(OMIM:129550)
|
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT
|
(OMIM:612132)
|
ECTOPIA PUPILLAE
|
(OMIM:129750)
|
ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE
|
(OMIM:129810)
|
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3
|
(OMIM:604292)
|
ECTRODACTYLY-CLEFT PALATE SYNDROME
|
(OMIM:129830)
|
EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL
|
(OMIM:129840)
|
EDICT syndrome
|
(Orphanet:293936)
|
EDINBURGH MALFORMATION SYNDROME
|
(OMIM:129850)
|
EEC syndrome
|
(Orphanet:1896)
|
ELECTROENCEPHALOGRAM, LOW-VOLTAGE
|
(OMIM:130180)
|
ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAITLOCUS
|
(OMIM:130190)
|
ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKEPHENOMENON
|
(OMIM:130200)
|
ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS
|
(OMIM:130300)
|
ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES
|
(OMIM:130400)
|
ELLIPTOCYTOSIS 1
|
(OMIM:611804)
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT
|
(OMIM:612998)
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
|
(OMIM:612999)
|
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
|
(OMIM:614302)
|
ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD
|
(OMIM:130950)
|
ENURESIS, NOCTURNAL, 1
|
(OMIM:600631)
|
ENURESIS, NOCTURNAL, 2
|
(OMIM:600808)
|
EOSINOPHILIA, FAMILIAL
|
(OMIM:131400)
|
EPIBLEPHARON OF LOWER LID
|
(OMIM:131450)
|
EPIBLEPHARON OF UPPER LID
|
(OMIM:131460)
|
EPICANTHUS
|
(OMIM:131500)
|
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN ANDDEFORMITY OF NAILS
|
(OMIM:132000)
|
EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE
|
(OMIM:131880)
|
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
|
(OMIM:607681)
|
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
|
(OMIM:612269)
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
|
(OMIM:607876)
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
|
(OMIM:613608)
|
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
|
(OMIM:615127)
|
EPILEPSY, FAMILIAL TEMPORAL LOBE, 4
|
(OMIM:611631)
|
EPILEPSY, IDIOPATHIC GENERALIZED
|
(OMIM:600669)
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
|
(OMIM:613060)
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
|
(OMIM:607628)
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
(OMIM:614847)
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
|
(OMIM:607682)
|
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9
|
(OMIM:614280)
|
EPILEPSY, NOCTURNAL FRONTAL LOBE, 2
|
(OMIM:603204)
|
EPILEPSY, NOCTURNAL FRONTAL LOBE, 3
|
(OMIM:605375)
|
EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
|
(OMIM:610353)
|
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
|
(OMIM:615005)
|
EPILEPSY, PROGRESSIVE MYOCLONIC, 5
|
(OMIM:613832)
|
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
(OMIM:615369)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
(OMIM:613721)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
|
(OMIM:614558)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
|
(OMIM:614959)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
|
(OMIM:615473)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
|
(OMIM:612164)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
(OMIM:613477)
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
(OMIM:613720)
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3
|
(OMIM:600969)
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
|
(OMIM:614135)
|
EPISODIC KINESIGENIC DYSKINESIA 2
|
(OMIM:611031)
|
EPISODIC PAIN SYNDROME, FAMILIAL, 1
|
(OMIM:615040)
|
EPISODIC PAIN SYNDROME, FAMILIAL, 2
|
(OMIM:615551)
|
EPISODIC PAIN SYNDROME, FAMILIAL, 3
|
(OMIM:615552)
|
EPISTAXIS, HEREDITARY
|
(OMIM:132500)
|
EPOXIDE HYDROLASE 1, MICROSOMAL
|
(OMIM:132810)
|
EPSTEIN SYNDROME
|
(OMIM:153650)
|
ERYTHEMA NODOSUM, FAMILIAL
|
(OMIM:132990)
|
ERYTHROCYTOSIS, FAMILIAL, 4
|
(OMIM:611783)
|
ESOPHAGEAL RING, LOWER
|
(OMIM:133240)
|
ETS VARIANT GENE 1
|
(OMIM:600541)
|
EXCHONDROSIS OF PINNA, POSTERIOR
|
(OMIM:133500)
|
EXFOLIATION SYNDROME
|
(OMIM:177650)
|
EXOSTOSES OF HEEL
|
(OMIM:133600)
|
EXOSTOSES, MULTIPLE, TYPE II
|
(OMIM:133701)
|
EXOSTOSES, MULTIPLE, TYPE III
|
(OMIM:600209)
|
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICALTALUS
|
(OMIM:133705)
|
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY
|
(OMIM:133750)
|
EXUDATIVE VITREORETINOPATHY 4
|
(OMIM:601813)
|
EXUDATIVE VITREORETINOPATHY 5
|
(OMIM:613310)
|
EYEBROW, WHORL IN
|
(OMIM:133800)
|
Early-onset autosomal dominant Alzheimer disease
|
(Orphanet:1020)
|
Early-onset generalized limb-onset dystonia
|
(Orphanet:256)
|
Early-onset non-syndromic cataract
|
(Orphanet:217052)
|
Ectodermal dysplasia with natal teeth, Turnpenny type
|
(Orphanet:69083)
|
Ectodermal dysplasia, tricho-odonto-onychial type
|
(Orphanet:1818)
|
Ehlers-Danlos syndrome type 11
|
(Orphanet:2295)
|
Ehlers-Danlos syndrome type 2
|
(Orphanet:90318)
|
Ehlers-Danlos syndrome, arthrochalasic type
|
(Orphanet:1899)
|
Ehlers-Danlos syndrome, classic type
|
(Orphanet:287)
|
Ehlers-Danlos syndrome, hypermobility type
|
(Orphanet:285)
|
Ehlers-Danlos syndrome, periodontitis type
|
(Orphanet:75392)
|
Ehlers-Danlos syndrome, vascular type
|
(Orphanet:286)
|
Elastosis perforans serpiginosa
|
(Orphanet:79148)
|
Emery-Dreifuss muscular dystrophy
|
(Orphanet:261)
|
Emery-Nelson syndrome
|
(Orphanet:1927)
|
Encephalopathy due to GLUT1 deficiency
|
(Orphanet:71277)
|
Epidermolysis bullosa simplex with mottled pigmentation
|
(Orphanet:79397)
|
Epidermolysis bullosa simplex, Dowling-Meara type
|
(Orphanet:79396)
|
Epidermolysis bullosa simplex, Ogna type
|
(Orphanet:79401)
|
Epidermolytic ichthyosis
|
(Orphanet:312)
|
Epidermolytic palmoplantar keratoderma
|
(Orphanet:2199)
|
Episodic ataxia type 1
|
(Orphanet:37612)
|
Episodic ataxia type 3
|
(Orphanet:79135)
|
Episodic ataxia type 4
|
(Orphanet:79136)
|
Episodic ataxia type 5
|
(Orphanet:211067)
|
Episodic ataxia type 7
|
(Orphanet:209970)
|
Epithelial recurrent erosion dystrophy
|
(Orphanet:293381)
|
Erythema palmaris hereditarium
|
(Orphanet:231031)
|
Erythrokeratodermia - ataxia
|
(Orphanet:1955)
|
Erythropoietic protoporphyria
|
(Orphanet:79278)
|
Esophageal carcinoma
|
(Orphanet:70482)
|
Essential thrombocythemia
|
(Orphanet:3318)
|
Exercise-induced hyperinsulinism
|
(Orphanet:165991)
|
Exostoses - anetodermia - brachydactyly type E
|
(Orphanet:1962)
|
Extensor tendons of finger anomalies
|
(Orphanet:3294)
|
External auditory canal aplasia/hypoplasia
|
(Orphanet:141074)
|
FACIAL HYPERTRICHOSIS
|
(OMIM:134000)
|
FACIAL SPASM
|
(OMIM:134300)
|
FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF
|
(OMIM:134540)
|
FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS
|
(OMIM:134400)
|
FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF
|
(OMIM:134430)
|
FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF
|
(OMIM:134510)
|
FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF
|
(OMIM:134520)
|
FAILURE OF TOOTH ERUPTION, PRIMARY
|
(OMIM:125350)
|
FAVISM, SUSCEPTIBILITY TO
|
(OMIM:134700)
|
FEBRILE SEIZURES, FAMILIAL, 1
|
(OMIM:121210)
|
FEBRILE SEIZURES, FAMILIAL, 2
|
(OMIM:602477)
|
FEBRILE SEIZURES, FAMILIAL, 4
|
(OMIM:604352)
|
FEBRILE SEIZURES, FAMILIAL, 5
|
(OMIM:609255)
|
FEBRILE SEIZURES, FAMILIAL, 6
|
(OMIM:609253)
|
FEBRILE SEIZURES, FAMILIAL, 9
|
(OMIM:611634)
|
FECHTNER SYNDROME
|
(OMIM:153640)
|
FEINGOLD SYNDROME 2
|
(OMIM:614326)
|
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2
|
(OMIM:142470)
|
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5
|
(OMIM:142335)
|
FGFR2-related bent bone dysplasia
|
(Orphanet:313855)
|
FIBRINOLYTIC DEFECT
|
(OMIM:134900)
|
FIBROCHONDROGENESIS 2
|
(OMIM:614524)
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT
|
(OMIM:600638)
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C
|
(OMIM:609384)
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE
|
(OMIM:609612)
|
FIBULA, RECURRENT DISLOCATION OF HEAD OF
|
(OMIM:135800)
|
FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME
|
(OMIM:246570)
|
FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE
|
(OMIM:135950)
|
FINGERS, RELATIVE LENGTH OF
|
(OMIM:136100)
|
FLOOD FACTOR DEFICIENCY
|
(OMIM:136150)
|
FLUSHING OF EARS AND SOMNOLENCE
|
(OMIM:136200)
|
FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS
|
(OMIM:136600)
|
FRONTOOCULAR SYNDROME
|
(OMIM:605321)
|
FRONTOTEMPORAL DEMENTIA
|
(OMIM:600274)
|
FTH1-related iron overload
|
(Orphanet:247790)
|
FUTCHER LINE
|
(OMIM:137000)
|
Facioscapulohumeral dystrophy
|
(Orphanet:269)
|
Familial Dupuytren contracture
|
(Orphanet:79142)
|
Familial Mediterranean fever
|
(Orphanet:342)
|
Familial Scheuermann disease
|
(Orphanet:3135)
|
Familial acute necrotizing encephalopathy
|
(Orphanet:88619)
|
Familial advanced sleep-phase syndrome
|
(Orphanet:164736)
|
Familial amyloid polyneuropathy
|
(Orphanet:85447)
|
Familial amyloidosis, Finnish type
|
(Orphanet:85448)
|
Familial articular chondrocalcinosis
|
(Orphanet:1416)
|
Familial avascular necrosis of femoral head
|
(Orphanet:86820)
|
Familial benign chronic pemphigus
|
(Orphanet:2841)
|
Familial capillary hemangioma
|
(Orphanet:91415)
|
Familial caudal dysgenesis
|
(Orphanet:1768)
|
Familial cerebral saccular aneurysm
|
(Orphanet:231160)
|
Familial chondromalacia patellae
|
(Orphanet:1428)
|
Familial clubfoot due to 17q23.1q23.2 microduplication
|
(Orphanet:238578)
|
Familial clubfoot with or without associated lower limb anomalies
|
(Orphanet:199315)
|
Familial cold urticaria
|
(Orphanet:47045)
|
Familial congenital mirror movements
|
(Orphanet:238722)
|
Familial congenital palsy of trochlear nerve
|
(Orphanet:91498)
|
Familial cortical myoclonus
|
(Orphanet:319189)
|
Familial cutaneous collagenoma
|
(Orphanet:53296)
|
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
|
(Orphanet:313846)
|
Familial cylindromatosis
|
(Orphanet:211)
|
Familial dementia, British type
|
(Orphanet:97345)
|
Familial dementia, Danish type
|
(Orphanet:97346)
|
Familial developmental dysphasia
|
(Orphanet:1799)
|
Familial digital arthropathy-brachydactyly
|
(Orphanet:85169)
|
Familial drusen
|
(Orphanet:75376)
|
Familial dyskinesia and facial myokymia
|
(Orphanet:324588)
|
Familial encephalopathy with neuroserpin inclusion bodies
|
(Orphanet:85110)
|
Familial expansile osteolysis
|
(Orphanet:85195)
|
Familial exudative vitreoretinopathy
|
(Orphanet:891)
|
Familial focal epilepsy with variable foci
|
(Orphanet:98820)
|
Familial gastric cancer
|
(Orphanet:26106)
|
Familial generalized lentiginosis
|
(Orphanet:231040)
|
Familial gestational hyperthyroidism
|
(Orphanet:99819)
|
Familial hyperaldosteronism type 1
|
(Orphanet:403)
|
Familial hyperaldosteronism type 3
|
(Orphanet:251274)
|
Familial hyperthyroidism due to mutations in TSH receptor
|
(Orphanet:424)
|
Familial hypocalciuric hypercalcemia
|
(Orphanet:405)
|
Familial hypospadias
|
(Orphanet:440)
|
Familial intestinal malrotation - facial anomalies
|
(Orphanet:2454)
|
Familial isolated congenital asplenia
|
(Orphanet:101351)
|
Familial isolated hypoparathyroidism due to impaired PTH secretion
|
(Orphanet:189466)
|
Familial isolated pituitary adenoma
|
(Orphanet:314777)
|
Familial juvenile hyperuricemic nephropathy type 1
|
(Orphanet:209886)
|
Familial lambdoid synostosis
|
(Orphanet:3267)
|
Familial leiomyomatosis
|
(Orphanet:523)
|
Familial melanoma
|
(Orphanet:618)
|
Familial mesial temporal lobe epilepsy with febrile seizures
|
(Orphanet:165805)
|
Familial multinodular goiter
|
(Orphanet:276399)
|
Familial multiple lipomatosis
|
(Orphanet:199276)
|
Familial multiple meningioma
|
(Orphanet:263662)
|
Familial multiple nevi flammei
|
(Orphanet:624)
|
Familial multiple trichoepithelioma
|
(Orphanet:867)
|
Familial ocular anterior segment mesenchymal dysgenesis
|
(Orphanet:88632)
|
Familial or sporadic hemiplegic migraine
|
(Orphanet:569)
|
Familial osteochondritis dissecans
|
(Orphanet:251262)
|
Familial papillary renal cell carcinoma
|
(Orphanet:47044)
|
Familial parathyroid adenoma
|
(Orphanet:99877)
|
Familial paroxysmal ataxia
|
(Orphanet:97)
|
Familial partial lipodystrophy associated with PLIN1 mutations
|
(Orphanet:280356)
|
Familial partial lipodystrophy, Köbberling type
|
(Orphanet:79084)
|
Familial platelet syndrome with predisposition to acute myelogenous leukemia
|
(Orphanet:71290)
|
Familial primary localized cutaneous amyloidosis
|
(Orphanet:353220)
|
Familial progressive cardiac conduction defect
|
(Orphanet:871)
|
Familial progressive hyperpigmentation
|
(Orphanet:79146)
|
Familial prostate cancer
|
(Orphanet:1331)
|
Familial pseudohyperkalemia
|
(Orphanet:90044)
|
Familial recurrent peripheral facial palsy
|
(Orphanet:2809)
|
Familial rhabdoid tumor
|
(Orphanet:231108)
|
Familial short QT syndrome
|
(Orphanet:51083)
|
Familial spontaneous pneumothorax
|
(Orphanet:2903)
|
Familial supernumerary nipples
|
(Orphanet:2456)
|
Familial symmetric lipomatosis
|
(Orphanet:2398)
|
Familial temporal epilepsy
|
(Orphanet:98819)
|
Familial vascular leukoencephalopathy
|
(Orphanet:36383)
|
Familial visceral myopathy
|
(Orphanet:2604)
|
Fatal familial insomnia
|
(Orphanet:466)
|
Feingold syndrome
|
(Orphanet:1305)
|
Felty syndrome
|
(Orphanet:47612)
|
Fibrodysplasia ossificans progressiva
|
(Orphanet:337)
|
Fibromuscular dysplasia of arteries
|
(Orphanet:336)
|
Fibronectin glomerulopathy
|
(Orphanet:84090)
|
Fibrosarcoma
|
(Orphanet:2030)
|
Fleck corneal dystrophy
|
(Orphanet:98970)
|
Floating-Harbor syndrome
|
(Orphanet:2044)
|
Florid cemento-osseous dysplasia
|
(Orphanet:83451)
|
Flynn-Aird syndrome
|
(Orphanet:2047)
|
Focal facial dermal dysplasia
|
(Orphanet:79133)
|
Focal myositis
|
(Orphanet:48918)
|
Focal palmoplantar and gingival keratoderma
|
(Orphanet:2200)
|
Foveal hypoplasia - presenile cataract
|
(Orphanet:2253)
|
Frasier syndrome
|
(Orphanet:347)
|
Freeman-Sheldon syndrome
|
(Orphanet:2053)
|
Frontotemporal dementia
|
(Orphanet:282)
|
Frontotemporal dementia with motor neuron disease
|
(Orphanet:275872)
|
Fuchs endothelial corneal dystrophy
|
(Orphanet:98974)
|
Fundus albipunctatus
|
(Orphanet:227796)
|
Fused mandibular incisors
|
(Orphanet:2287)
|
GALLBLADDER, AGENESIS OF
|
(OMIM:137040)
|
GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF
|
(OMIM:137050)
|
GASTRIC SNEEZING
|
(OMIM:137130)
|
GASTRIC VOLVULUS, INTRATHORACIC
|
(OMIM:137210)
|
GASTROESOPHAGEAL REFLUX
|
(OMIM:109350)
|
GELEOPHYSIC DYSPLASIA 2
|
(OMIM:614185)
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
(OMIM:604403)
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
|
(OMIM:611277)
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4
|
(OMIM:609800)
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7
|
(OMIM:613863)
|
GENU VALGUM, ST. HELENA FAMILIAL
|
(OMIM:137370)
|
GEOGRAPHIC TONGUE AND FISSURED TONGUEGLOSSITIS, BENIGN MIGRATORY, INCLUDED
|
(OMIM:137400)
|
GIACHETI SYNDROME
|
(OMIM:612917)
|
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
|
(OMIM:610100)
|
GIANT NEUTROPHIL LEUKOCYTES
|
(OMIM:137500)
|
GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA
|
(OMIM:137560)
|
GILLES DE LA TOURETTE SYNDROME
|
(OMIM:137580)
|
GLAUCOMA 1, OPEN ANGLE, F
|
(OMIM:603383)
|
GLAUCOMA 1, OPEN ANGLE, M
|
(OMIM:610535)
|
GLAUCOMA 1, OPEN ANGLE, P
|
(OMIM:177700)
|
GLAUCOMA 1, PRIMARY OPEN ANGLE, C
|
(OMIM:601682)
|
GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE
|
(OMIM:137700)
|
GLAUCOMA, PRIMARY OPEN ANGLE
|
(OMIM:137760)
|
GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN
|
(OMIM:137900)
|
GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
|
(OMIM:609886)
|
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
|
(OMIM:601894)
|
GLUCOGLYCINURIA
|
(OMIM:138070)
|
GMS syndrome
|
(Orphanet:2090)
|
GRANDDAD SYNDROME
|
(OMIM:138920)
|
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE
|
(OMIM:138990)
|
GRANULOSIS RUBRA NASI
|
(OMIM:139000)
|
GRAYING OF HAIR, PRECOCIOUS
|
(OMIM:139100)
|
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL
|
(OMIM:615925)
|
Gastrocutaneous syndrome
|
(Orphanet:2069)
|
Gastrointestinal stromal tumor
|
(Orphanet:44890)
|
Generalized basaloid follicular hamartoma syndrome
|
(Orphanet:168632)
|
Generalized dominant dystrophic epidermolysis bullosa
|
(Orphanet:231568)
|
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
|
(Orphanet:79399)
|
Generalized epilepsy - paroxysmal dyskinesia
|
(Orphanet:79137)
|
Generalized epilepsy with febrile seizures-plus context
|
(Orphanet:36387)
|
Generalized resistance to thyroid hormone
|
(Orphanet:3221)
|
Genochondromatosis type 1
|
(Orphanet:85197)
|
Gerstmann-Straussler-Scheinker syndrome
|
(Orphanet:356)
|
Giant cell arteritis
|
(Orphanet:397)
|
Gingival fibromatosis - progressive deafness
|
(Orphanet:2027)
|
Gingival fibromatosis-hypertrichosis syndrome
|
(Orphanet:2026)
|
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
|
(Orphanet:2084)
|
Glial tumor
|
(Orphanet:182067)
|
Glomerulonephritis - sparse hair - telangiectasis
|
(Orphanet:2087)
|
Glomuvenous malformation
|
(Orphanet:83454)
|
Gnathodiaphyseal dysplasia
|
(Orphanet:53697)
|
Goldblatt syndrome
|
(Orphanet:166272)
|
Goldenhar syndrome
|
(Orphanet:374)
|
Gordon syndrome
|
(Orphanet:376)
|
Gorham-Stout disease
|
(Orphanet:73)
|
Gorlin syndrome
|
(Orphanet:377)
|
Grant syndrome
|
(Orphanet:2097)
|
Granular corneal dystrophy type I
|
(Orphanet:98962)
|
Granular corneal dystrophy type II
|
(Orphanet:98963)
|
Gray platelet syndrome
|
(Orphanet:721)
|
Greig cephalopolysyndactyly syndrome
|
(Orphanet:380)
|
Growth delay due to insulin-like growth factor I resistance
|
(Orphanet:73273)
|
Guttmacher syndrome
|
(Orphanet:2957)
|
HAIR MORPHOLOGY 2
|
(OMIM:139450)
|
HAIR WHORL
|
(OMIM:139400)
|
HAIRY PALMS AND SOLES
|
(OMIM:139650)
|
HAJDU-CHENEY SYNDROME
|
(OMIM:102500)
|
HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS
|
(OMIM:609808)
|
HAND SKILL, RELATIVE
|
(OMIM:139900)
|
HASHIMOTO THYROIDITIS
|
(OMIM:140300)
|
HEMANGIOMAS OF SMALL INTESTINE
|
(OMIM:140900)
|
HEMATURIA, BENIGN FAMILIAL
|
(OMIM:141200)
|
HEMOGLOBIN, HIGH ALTITUDE ADAPTATION
|
(OMIM:609070)
|
HEMOGLOBIN--ALPHA LOCUS 1
|
(OMIM:141800)
|
HEMOGLOBIN--ALPHA LOCUS 3
|
(OMIM:141860)
|
HEMOGLOBIN--DELTA LOCUS
|
(OMIM:142000)
|
HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION ISUNKNOWN OR UNCERTAIN
|
(OMIM:142309)
|
HEMOGLOBIN--ZETA LOCUS
|
(OMIM:142310)
|
HEPARIN COFACTOR II DEFICIENCY
|
(OMIM:612356)
|
HEPARIN-BINDING EGF-LIKE GROWTH FACTOR
|
(OMIM:126150)
|
HEPATIC ADENOMAS, FAMILIAL
|
(OMIM:142330)
|
HEPATITIS B VACCINE, RESPONSE TO
|
(OMIM:142395)
|
HERNIA, HIATUS
|
(OMIM:142400)
|
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4
|
(OMIM:614850)
|
HETEROCHROMIA IRIDIS
|
(OMIM:142500)
|
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
|
(OMIM:605376)
|
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
|
(OMIM:613751)
|
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION
|
(OMIM:613870)
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5
|
(OMIM:600156)
|
HOLOPROSENCEPHALY 11
|
(OMIM:614226)
|
HOLOPROSENCEPHALY 2
|
(OMIM:157170)
|
HOLOPROSENCEPHALY 4
|
(OMIM:142946)
|
HOLOPROSENCEPHALY 5
|
(OMIM:609637)
|
HOLOPROSENCEPHALY 7
|
(OMIM:610828)
|
HOLOPROSENCEPHALY 9
|
(OMIM:610829)
|
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
|
(OMIM:610680)
|
HUMAN CORONAVIRUS SENSITIVITY
|
(OMIM:122460)
|
HUNTER-MACDONALD SYNDROME
|
(OMIM:611962)
|
HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY
|
(OMIM:614033)
|
HYPERBILIRUBINEMIA, SHUNT, PRIMARY
|
(OMIM:237800)
|
HYPERCHLORHIDROSIS, ISOLATED
|
(OMIM:143860)
|
HYPERCHOLESTEROLEMIA SUPPRESSOR
|
(OMIM:144020)
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
|
(OMIM:603776)
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
|
(OMIM:144010)
|
HYPEREKPLEXIA 3
|
(OMIM:614618)
|
HYPERGLYCINURIA
|
(OMIM:138500)
|
HYPERHEPARINEMIA
|
(OMIM:144050)
|
HYPERHIDROSIS PALMARIS ET PLANTARIS
|
(OMIM:144110)
|
HYPERHIDROSIS, GUSTATORY
|
(OMIM:144100)
|
HYPERIMMUNOGLOBULIN G1(A1) SYNDROMEIMMUNOGLOBULIN HEAVY CHAIN REGULATOR, INCLUDED
|
(OMIM:144120)
|
HYPERLIPIDEMIA, FAMILIAL COMBINED
|
(OMIM:144250)
|
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS
|
(OMIM:144300)
|
HYPEROSTOSIS CRANIALIS INTERNA
|
(OMIM:144755)
|
HYPERPIGMENTATION OF EYELIDS
|
(OMIM:145100)
|
HYPERPIGMENTATION OF FULDAUER AND KUIJPERS
|
(OMIM:145200)
|
HYPERPROGLUCAGONEMIA
|
(OMIM:145270)
|
HYPERPROLACTINEMIA
|
(OMIM:615555)
|
HYPERREFLEXIA
|
(OMIM:145290)
|
HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL
|
(OMIM:145295)
|
HYPERTELORISM
|
(OMIM:145400)
|
HYPERTENSION, DIASTOLIC, RESISTANCE TO
|
(OMIM:608622)
|
HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA
|
(OMIM:145590)
|
HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC
|
(OMIM:145680)
|
HYPERTRIGLYCERIDEMIA, FAMILIAL
|
(OMIM:145750)
|
HYPERTROPHIA MUSCULORUM VERA
|
(OMIM:145800)
|
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
|
(OMIM:614227)
|
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
|
(OMIM:605019)
|
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
|
(OMIM:615361)
|
HYPOGLYCEMIA, LEUCINE-INDUCED
|
(OMIM:240800)
|
HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA
|
(OMIM:614841)
|
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
|
(OMIM:614858)
|
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
|
(OMIM:614880)
|
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
|
(OMIM:614897)
|
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA
|
(OMIM:615267)
|
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
|
(OMIM:610628)
|
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
|
(OMIM:612370)
|
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
|
(OMIM:612702)
|
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
|
(OMIM:614838)
|
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
|
(OMIM:613345)
|
HYPOMAGNESEMIA 6, RENAL
|
(OMIM:613882)
|
HYPOPHOSPHATEMIC BONE DISEASE
|
(OMIM:146350)
|
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM
|
(OMIM:612089)
|
HYPOPLASIA OF TEETH ROOTS
|
(OMIM:146400)
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
|
(OMIM:225250)
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
|
(OMIM:614450)
|
HYPOTRICHOSIS 1
|
(OMIM:605389)
|
HYPOTRICHOSIS 11
|
(OMIM:615059)
|
HYPOTRICHOSIS 3
|
(OMIM:613981)
|
Hand-foot-genital syndrome
|
(Orphanet:2438)
|
Hartsfield-Bixler-Demyer syndrome
|
(Orphanet:2117)
|
Heart-hand syndrome type 3
|
(Orphanet:1342)
|
Heart-hand syndrome, Slovenian type
|
(Orphanet:168796)
|
Heinz body anemia
|
(Orphanet:178330)
|
Helicoid peripapillary chorioretinal degeneration
|
(Orphanet:86813)
|
Hemifacial hypertrophy
|
(Orphanet:141145)
|
Hemihypertrophy
|
(Orphanet:2128)
|
Hemoglobinopathy Toms River
|
(Orphanet:280615)
|
Hemophilia A
|
(Orphanet:98878)
|
Hepatocellular carcinoma
|
(Orphanet:88673)
|
Hepatoerythropoietic porphyria
|
(Orphanet:95159)
|
Hereditary angioedema type 1
|
(Orphanet:100050)
|
Hereditary angioedema type 3
|
(Orphanet:100054)
|
Hereditary benign intraepithelial dyskeratosis
|
(Orphanet:352657)
|
Hereditary breast and ovarian cancer syndrome
|
(Orphanet:145)
|
Hereditary breast cancer
|
(Orphanet:227535)
|
Hereditary cerebral cavernous malformation
|
(Orphanet:221061)
|
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
|
(Orphanet:100006)
|
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
|
(Orphanet:100008)
|
Hereditary chronic pancreatitis
|
(Orphanet:676)
|
Hereditary coproporphyria
|
(Orphanet:79273)
|
Hereditary geniospasm
|
(Orphanet:53372)
|
Hereditary gingival fibromatosis
|
(Orphanet:2024)
|
Hereditary hemorrhagic telangiectasia
|
(Orphanet:774)
|
Hereditary hypercarotenemia and vitamin A deficiency
|
(Orphanet:199285)
|
Hereditary hyperekplexia
|
(Orphanet:3197)
|
Hereditary mixed polyposis syndrome
|
(Orphanet:157794)
|
Hereditary motor and sensory neuropathy type 5
|
(Orphanet:64751)
|
Hereditary motor and sensory neuropathy type 6
|
(Orphanet:90120)
|
Hereditary motor and sensory neuropathy, Okinawa type
|
(Orphanet:90117)
|
Hereditary mucoepithelial dysplasia
|
(Orphanet:1839)
|
Hereditary myoclonus - progressive distal muscular atrophy
|
(Orphanet:2590)
|
Hereditary neurocutaneous angioma
|
(Orphanet:1062)
|
Hereditary neuropathy with liability to pressure palsies
|
(Orphanet:640)
|
Hereditary neutrophilia
|
(Orphanet:279943)
|
Hereditary nonpolyposis colon cancer
|
(Orphanet:144)
|
Hereditary painful callosities
|
(Orphanet:79141)
|
Hereditary pheochromocytoma-paraganglioma
|
(Orphanet:29072)
|
Hereditary progressive mucinous histiocytosis
|
(Orphanet:158025)
|
Hereditary pyropoikilocytosis
|
(Orphanet:98867)
|
Hereditary sclerosing poikiloderma, Weary type
|
(Orphanet:221039)
|
Hereditary sensory and autonomic neuropathy type 1
|
(Orphanet:36386)
|
Hereditary sensory and autonomic neuropathy type 1B
|
(Orphanet:139564)
|
Hereditary spherocytosis
|
(Orphanet:822)
|
Hereditary thermosensitive neuropathy
|
(Orphanet:84093)
|
Hereditary thrombophilia due to congenital antithrombin deficiency
|
(Orphanet:82)
|
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
|
(Orphanet:217467)
|
Hereditary thrombophilia due to congenital protein C deficiency
|
(Orphanet:745)
|
Heterotaxia
|
(Orphanet:450)
|
Hidrotic ectodermal dysplasia
|
(Orphanet:189)
|
Hidrotic ectodermal dysplasia, Christianson-Fourie type
|
(Orphanet:1808)
|
Hip dysplasia, Beukes type
|
(Orphanet:2114)
|
Hirschsprung disease
|
(Orphanet:388)
|
Hirsutism - skeletal dysplasia - intellectual deficit
|
(Orphanet:2156)
|
Holoprosencephaly
|
(Orphanet:2162)
|
Holoprosencephaly - radial heart renal anomalies
|
(Orphanet:3186)
|
Holt-Oram syndrome
|
(Orphanet:392)
|
Hot water reflex epilepsy
|
(Orphanet:166412)
|
Humero-radial synostosis
|
(Orphanet:3265)
|
Hunter-McAlpine craniosynostosis
|
(Orphanet:97340)
|
Huntington disease-like 1
|
(Orphanet:157941)
|
Huntington disease-like 2
|
(Orphanet:98934)
|
Hutchinson-Gilford progeria syndrome
|
(Orphanet:740)
|
Hyperbiliverdinemia
|
(Orphanet:276405)
|
Hyperinsulinism due to INSR deficiency
|
(Orphanet:263458)
|
Hyperinsulinism due to glucokinase deficiency
|
(Orphanet:79299)
|
Hyperinsulinism-hyperammonemia syndrome
|
(Orphanet:35878)
|
Hyperkalemic periodic paralysis
|
(Orphanet:682)
|
Hyperkeratosis lenticularis perstans
|
(Orphanet:409)
|
Hyperlipoproteinemia type 1
|
(Orphanet:411)
|
Hyperlipoproteinemia type 4
|
(Orphanet:413)
|
Hyperlipoproteinemia type 5
|
(Orphanet:70470)
|
Hyperparathyroidism - jaw tumor syndrome
|
(Orphanet:99880)
|
Hypertaurinuric cardiomyopathy
|
(OMIM:145350)
|
Hypertelorism, Teebi type
|
(Orphanet:1519)
|
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
|
(Orphanet:293958)
|
Hypertrichosis cubiti - short stature
|
(Orphanet:2220)
|
Hypertrichosis lanuginosa congenita
|
(Orphanet:2222)
|
Hypertrichotic osteochondrodysplasia, Cantu type
|
(Orphanet:1517)
|
Hyperuricemia - anemia - renal failure
|
(Orphanet:217330)
|
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency
|
(Orphanet:2435)
|
Hypocalcified amelogenesis imperfecta
|
(Orphanet:100032)
|
Hypochondroplasia
|
(Orphanet:429)
|
Hypodontia - dysplasia of nails
|
(Orphanet:2228)
|
Hypoglossia - hypodactyly
|
(Orphanet:989)
|
Hypoinsulinemic hypoglycemia and body hemihypertrophy
|
(Orphanet:293964)
|
Hypokalemic periodic paralysis
|
(Orphanet:681)
|
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
|
(Orphanet:100034)
|
Hypomyelination with atrophy of basal ganglia and cerebellum
|
(Orphanet:139441)
|
Hypoparathyroidism - deafness - renal disease
|
(Orphanet:2237)
|
Hypopigmentation-punctate palmoplantar keratoderma syndrome
|
(Orphanet:324561)
|
Hypoplastic amelogenesis imperfecta
|
(Orphanet:100031)
|
Hypoplastic tibiae - postaxial polydactyly
|
(Orphanet:3332)
|
Hypotrichosis - lymphedema - telangiectasia
|
(Orphanet:69735)
|
Hypotrichosis simplex
|
(Orphanet:55654)
|
Hypotrichosis simplex of the scalp
|
(Orphanet:90368)
|
Hypouricemia, renal, 2
|
(OMIM:612076)
|
ICHTHYOSIS VULGARIS
|
(OMIM:146700)
|
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
(OMIM:602540)
|
IMAGe syndrome
|
(Orphanet:85173)
|
IMMUNE SUPPRESSION
|
(OMIM:146850)
|
IMMUNODEFICIENCY 27B
|
(OMIM:615978)
|
IMMUNODEFICIENCY 31A
|
(OMIM:614892)
|
IMMUNODEFICIENCY 31C
|
(OMIM:614162)
|
IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTIONAND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST
|
(OMIM:146840)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 10
|
(OMIM:615577)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 2
|
(OMIM:240500)
|
IMMUNOGLOBULIN A DEFICIENCY 1
|
(OMIM:137100)
|
INCISORS, LONG UPPER CENTRAL
|
(OMIM:147300)
|
INCISORS, LOWER CENTRAL, ABSENCE OF
|
(OMIM:147330)
|
INCISORS, ROTATION OF UPPER CENTRAL
|
(OMIM:147350)
|
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 3
|
(OMIM:615424)
|
INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT
|
(OMIM:147430)
|
INSECT STINGS, HYPERSENSITIVITY TO
|
(OMIM:147540)
|
INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY
|
(OMIM:147530)
|
INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF
|
(OMIM:147820)
|
INTUSSUSCEPTION
|
(OMIM:147710)
|
IRIS PIGMENT EPITHELIUM ANOMALIES
|
(OMIM:601616)
|
IRIS PIGMENT LAYER, CLEAVAGE OF
|
(OMIM:147610)
|
IVIC syndrome
|
(Orphanet:2307)
|
Ichthyosis hystrix gravior
|
(Orphanet:79504)
|
Ichthyosis hystrix of Curth-Macklin
|
(Orphanet:79503)
|
Ichthyosis-cheek-eyebrow syndrome
|
(Orphanet:2267)
|
Idiopathic CD4 lymphocytopenia
|
(Orphanet:228000)
|
Idiopathic and/or familial pulmonary arterial hypertension
|
(Orphanet:422)
|
Idiopathic bronchiectasis
|
(Orphanet:60033)
|
Idiopathic hypercalciuria
|
(Orphanet:2197)
|
Idiopathic pulmonary hemosiderosis
|
(Orphanet:99931)
|
IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1
|
(OMIM:161950)
|
IgE RESPONSIVENESS, ATOPIC
|
(OMIM:147050)
|
IgG HEAVY CHAIN LOCUS
|
(OMIM:147100)
|
Immune thrombocytopenic purpura
|
(Orphanet:3002)
|
Immunodeficiency by defective expression of HLA class 2
|
(Orphanet:572)
|
Immunodeficiency due to an early component of complement deficiency
|
(Orphanet:169147)
|
Immunodeficiency with factor H anomaly
|
(Orphanet:200421)
|
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
|
(Orphanet:52430)
|
Inclusion body myositis
|
(Orphanet:611)
|
Infantile convulsions and choreoathetosis
|
(Orphanet:31709)
|
Infantile myofibromatosis
|
(Orphanet:2591)
|
Infundibulopelvic stenosis - multicystic kidney
|
(Orphanet:1849)
|
Intellectual deficit - balding - patella luxation - acromicria
|
(Orphanet:3041)
|
Intellectual deficit, Birk-Barel type
|
(Orphanet:166108)
|
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
|
(Orphanet:363611)
|
Interventricular septum aneurysm
|
(Orphanet:99092)
|
Intestinal lymphangiectasia
|
(Orphanet:36204)
|
Intrahepatic cholestasis of pregnancy
|
(Orphanet:69665)
|
Isolated Klippel-Feil syndrome
|
(Orphanet:2345)
|
Isolated adermatoglyphia
|
(Orphanet:289465)
|
Isolated aniridia
|
(Orphanet:250923)
|
Isolated anorectal malformation
|
(Orphanet:557)
|
Isolated breast aplasia
|
(Orphanet:180188)
|
Isolated cloverleaf skull syndrome
|
(Orphanet:2343)
|
Isolated congenital alacrima
|
(Orphanet:91416)
|
Isolated congenital anosmia
|
(Orphanet:88620)
|
Isolated congenital digital clubbing
|
(Orphanet:217059)
|
Isolated congenital sclerocornea
|
(Orphanet:91490)
|
Isolated cryptophthalmia
|
(Orphanet:91396)
|
Isolated distichiasis
|
(Orphanet:99177)
|
Isolated ectopia lentis
|
(Orphanet:1885)
|
Isolated growth hormone deficiency type II
|
(Orphanet:231679)
|
Isolated hereditary congenital facial paralysis
|
(Orphanet:306527)
|
Isolated optic nerve hypoplasia
|
(Orphanet:137902)
|
Isolated plagiocephaly
|
(Orphanet:35098)
|
Isolated polycystic liver disease
|
(Orphanet:2924)
|
Isolated scaphocephaly
|
(Orphanet:35093)
|
Isolated trigonocephaly
|
(Orphanet:3366)
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
|
(OMIM:175050)
|
Jackson-Weiss syndrome
|
(Orphanet:1540)
|
Juvenile Huntington disease
|
(Orphanet:248111)
|
Juvenile absence epilepsy
|
(Orphanet:1941)
|
Juvenile cataract - microcornea - renal glucosuria
|
(Orphanet:247794)
|
Juvenile glaucoma
|
(Orphanet:98977)
|
Juvenile myoclonic epilepsy
|
(Orphanet:307)
|
Juvenile polyposis syndrome
|
(Orphanet:2929)
|
KBG syndrome
|
(Orphanet:2332)
|
KELOID FORMATION
|
(OMIM:148100)
|
KERATITIS FUGAX HEREDITARIA
|
(OMIM:148200)
|
KERATOCONUS 1
|
(OMIM:148300)
|
KERATOCONUS 5
|
(OMIM:614622)
|
KERATOCONUS 6
|
(OMIM:614623)
|
KERATOCONUS 7
|
(OMIM:614629)
|
KERATOCONUS 8
|
(OMIM:614628)
|
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT
|
(OMIM:612843)
|
KERATOSIS PALMOPLANTARIS STRIATA II
|
(OMIM:612908)
|
KERATOSIS PALMOPLANTARIS STRIATA III
|
(OMIM:607654)
|
KERATOSIS, FAMILIAL ACTINIC
|
(OMIM:148390)
|
KERATOSIS, SEBORRHEIC
|
(OMIM:182000)
|
KID syndrome
|
(Orphanet:477)
|
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
|
(OMIM:613702)
|
KNUCKLE PADS
|
(OMIM:149100)
|
KYRLE DISEASE
|
(OMIM:149500)
|
Kabuki syndrome
|
(Orphanet:2322)
|
Kallmann syndrome
|
(Orphanet:478)
|
Kaposi's sarcoma
|
(Orphanet:33276)
|
Karsch-Neugebauer syndrome
|
(Orphanet:2329)
|
Kasabach-Merritt syndrome
|
(Orphanet:2330)
|
Keipert syndrome
|
(Orphanet:2662)
|
Kenny-Caffey syndrome
|
(Orphanet:2333)
|
Keratoderma hereditarium mutilans
|
(Orphanet:494)
|
Keratolytic winter erythema
|
(Orphanet:50943)
|
Keratosis palmaris et plantaris - clinodactyly
|
(Orphanet:86919)
|
Kleefstra syndrome
|
(Orphanet:261494)
|
Kleine-Levin syndrome
|
(Orphanet:33543)
|
Kniest dysplasia
|
(Orphanet:485)
|
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
|
(Orphanet:2698)
|
Koolen-De Vries syndrome
|
(Orphanet:96169)
|
L-FERRITIN DEFICIENCY
|
(OMIM:615604)
|
LABIA MINORA, INCOMPLETE ADHESION OF
|
(OMIM:149600)
|
LACRIMAL DUCT DEFECT
|
(OMIM:149700)
|
LACTIC ACIDOSIS, CHRONIC ADULT FORM
|
(OMIM:150170)
|
LARYNGEAL ADDUCTOR PARALYSIS
|
(OMIM:150270)
|
LATERALITY DEFECTS, AUTOSOMAL DOMINANT
|
(OMIM:601086)
|
LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT
|
(OMIM:150500)
|
LEIOMYOMA, UTERINE
|
(OMIM:150699)
|
LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC
|
(OMIM:151000)
|
LENTIGINOSIS, INHERITED PATTERNED
|
(OMIM:151001)
|
LEOPARD SYNDROME 3
|
(OMIM:613707)
|
LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF
|
(OMIM:151500)
|
LEVATOR-MEDIAL RECTUS SYNKINESIS
|
(OMIM:151610)
|
LI-FRAUMENI SYNDROME 2
|
(OMIM:609265)
|
LICHEN SCLEROSUS ET ATROPHICUS
|
(OMIM:151590)
|
LIP, HAMARTOMATOUS
|
(OMIM:151640)
|
LIPOMA OF THE CONJUNCTIVA
|
(OMIM:151700)
|
LITHIUM TRANSPORT
|
(OMIM:152420)
|
LOEYS-DIETZ SYNDROME 2
|
(OMIM:610168)
|
LOEYS-DIETZ SYNDROME 4
|
(OMIM:614816)
|
LUMBAR STENOSIS, FAMILIAL
|
(OMIM:152550)
|
LUNULAE OF FINGERNAILS
|
(OMIM:152600)
|
LUTEINIZING HORMONE, BETA POLYPEPTIDE
|
(OMIM:152780)
|
LYMPHEDEMA, HEREDITARY, IB
|
(OMIM:611944)
|
LYMPHEDEMA, HEREDITARY, IC
|
(OMIM:613480)
|
LYSINE-SPECIFIC METHYLTRANSFERASE 2A
|
(OMIM:159555)
|
Lacrimo-auriculo-dento-digital syndrome
|
(Orphanet:2363)
|
Laing distal myopathy
|
(Orphanet:59135)
|
Lamellar ichthyosis
|
(Orphanet:313)
|
Langer-Giedion syndrome
|
(Orphanet:502)
|
Large congenital melanocytic nevus
|
(Orphanet:626)
|
Laryngeal abductor paralysis
|
(Orphanet:2808)
|
Larynx atresia
|
(Orphanet:1202)
|
Late-onset retinal degeneration
|
(Orphanet:67042)
|
Lateral meningocele syndrome
|
(Orphanet:2789)
|
Lattice corneal dystrophy type I
|
(Orphanet:98964)
|
Laurin-Sandrow syndrome
|
(Orphanet:2378)
|
Leber congenital amaurosis
|
(Orphanet:65)
|
Leber congenital amaurosis 11
|
(OMIM:613837)
|
Legius syndrome
|
(Orphanet:137605)
|
Lenz-Majewski hyperostotic dwarfism
|
(Orphanet:2658)
|
Leprosy
|
(Orphanet:548)
|
Leri pleonosteosis
|
(Orphanet:2900)
|
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
|
(Orphanet:330050)
|
Leukonychia totalis
|
(Orphanet:2387)
|
Li-Fraumeni syndrome
|
(Orphanet:524)
|
Liddle syndrome
|
(Orphanet:526)
|
Limb dystonia
|
(Orphanet:93957)
|
Limb-mammary syndrome
|
(Orphanet:69085)
|
Linear and whorled nevoid hypermelanosis
|
(Orphanet:79150)
|
Lipedema
|
(Orphanet:77243)
|
Lissencephaly due to TUBA1A mutation
|
(Orphanet:171680)
|
Localized epidermolysis bullosa simplex
|
(Orphanet:79400)
|
Loeys-Dietz syndrome type 1
|
(Orphanet:60030)
|
Low phospholipid associated cholelithiasis
|
(Orphanet:69663)
|
Lower motor neuron syndrome with late-adult onset
|
(Orphanet:276435)
|
Lymphedema - cerebral arteriovenous anomaly
|
(Orphanet:86914)
|
Lymphedema - distichiasis
|
(Orphanet:33001)
|
Léri-Weill dyschondrosteosis
|
(Orphanet:240)
|
MACROCYTOSIS, FAMILIAL
|
(OMIM:600084)
|
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
|
(OMIM:613112)
|
MACULAR DEGENERATION, AGE-RELATED, 13
|
(OMIM:615439)
|
MACULAR DEGENERATION, AGE-RELATED, 2
|
(OMIM:153800)
|
MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE
|
(OMIM:153890)
|
MACULAR DYSTROPHY, VITELLIFORM, 1
|
(OMIM:153840)
|
MACULAR DYSTROPHY, VITELLIFORM, 4
|
(OMIM:616151)
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
(OMIM:616152)
|
MAJOR AFFECTIVE DISORDER 1
|
(OMIM:125480)
|
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
|
(OMIM:600467)
|
MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH
|
(OMIM:154300)
|
MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA
|
(OMIM:189490)
|
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT
|
(OMIM:608257)
|
MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE
|
(OMIM:154570)
|
MASP2 DEFICIENCY
|
(OMIM:613791)
|
MASS SYNDROME
|
(OMIM:604308)
|
MASTICATORY MUSCLES, HYPERTROPHY OF
|
(OMIM:154850)
|
MAXILLOFACIAL DYSOSTOSIS
|
(OMIM:155000)
|
MAY-HEGGLIN ANOMALY
|
(OMIM:155100)
|
MECKEL DIVERTICULUM
|
(OMIM:155140)
|
MEDIAN-ULNAR NERVE COMMUNICATIONS
|
(OMIM:155150)
|
MEDIOSTERNAL DEPIGMENTATION LINE
|
(OMIM:155200)
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION
|
(OMIM:613926)
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
|
(OMIM:155601)
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
|
(OMIM:609048)
|
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
|
(OMIM:615134)
|
MELANOMA, UVEAL
|
(OMIM:155720)
|
MELANOSIS, UNIVERSAL
|
(OMIM:155800)
|
MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA
|
(OMIM:156190)
|
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES
|
(OMIM:613670)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
|
(OMIM:614256)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
|
(OMIM:614257)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
(OMIM:614562)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
|
(OMIM:614563)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
|
(OMIM:614607)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
|
(OMIM:614608)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16
|
(OMIM:614609)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
|
(OMIM:615009)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
|
(OMIM:615074)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2
|
(OMIM:614113)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
(OMIM:615834)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
|
(OMIM:615866)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 3
|
(OMIM:612580)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
|
(OMIM:616311)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
|
(OMIM:612581)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
|
(OMIM:612621)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
|
(OMIM:613970)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
(OMIM:614104)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 8
|
(OMIM:614254)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
(OMIM:614255)
|
MERALGIA PARAESTHETICA, FAMILIAL
|
(OMIM:156220)
|
MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE
|
(OMIM:156230)
|
METATARSUS VARUS, TYPE I
|
(OMIM:156520)
|
MICROPHTHALMIA, ISOLATED 4
|
(OMIM:613094)
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
|
(OMIM:611638)
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
|
(OMIM:613703)
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
|
(OMIM:614497)
|
MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA
|
(OMIM:156900)
|
MICROPHTHALMIA, SYNDROMIC 12
|
(OMIM:615524)
|
MICROSPHEROPHAKIA WITH HERNIA
|
(OMIM:157150)
|
MIDPHALANGEAL HAIR
|
(OMIM:157200)
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
(OMIM:157300)
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10
|
(OMIM:610208)
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11
|
(OMIM:610209)
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3
|
(OMIM:607498)
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5
|
(OMIM:607508)
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6
|
(OMIM:607516)
|
MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4
|
(OMIM:607501)
|
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
|
(OMIM:602481)
|
MIGRAINE, FAMILIAL HEMIPLEGIC, 3
|
(OMIM:609634)
|
MILIA, MULTIPLE ERUPTIVE
|
(OMIM:157400)
|
MIRROR MOVEMENTS 2
|
(OMIM:614508)
|
MITF-related melanoma and renal cell carcinoma predisposition syndrome
|
(Orphanet:293822)
|
MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 3
|
(OMIM:605431)
|
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
|
(OMIM:607829)
|
MITRAL VALVE PROLAPSE, MYXOMATOUS 3
|
(OMIM:610840)
|
MOMO syndrome
|
(Orphanet:2563)
|
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
|
(OMIM:613353)
|
MONOPHALANGY OF GREAT TOE
|
(OMIM:158100)
|
MOVED TO 143890
|
(OMIM:144400)
|
MOYAMOYA DISEASE 5
|
(OMIM:614042)
|
MRCS syndrome
|
(Orphanet:263347)
|
MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS
|
(OMIM:158345)
|
MULTIPLE FIBROADENOMAS OF THE BREAST
|
(OMIM:615554)
|
MULTIPLE SYNOSTOSES SYNDROME 2
|
(OMIM:610017)
|
MULTIPLE SYNOSTOSES SYNDROME 3
|
(OMIM:612961)
|
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
|
(OMIM:613834)
|
MUSCLE CRAMPS, FAMILIAL
|
(OMIM:158400)
|
MUSCULAR ATROPHY, MALIGNANT NEUROGENIC
|
(OMIM:158650)
|
MUSCULAR DYSTROPHY, BARNES TYPE
|
(OMIM:158800)
|
MUSCULAR DYSTROPHY, SCAPULOHUMERAL
|
(OMIM:600416)
|
MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE
|
(OMIM:159100)
|
MUSICAL PERFECT PITCH
|
(OMIM:159300)
|
MYASTHENIC SYNDROME, CONGENITAL, 13
|
(OMIM:614750)
|
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
|
(OMIM:601462)
|
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
|
(OMIM:608930)
|
MYDRIASIS, CONGENITAL
|
(OMIM:159420)
|
MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS
|
(OMIM:159410)
|
MYELINATED OPTIC NERVE FIBERS
|
(OMIM:159500)
|
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
|
(OMIM:131440)
|
MYH9-related thrombocytopenia
|
(Orphanet:182050)
|
MYOCLONIC EPILEPSY, HARTUNG TYPE
|
(OMIM:159600)
|
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4
|
(OMIM:611364)
|
MYOFIBROMATOSIS, INFANTILE, 2
|
(OMIM:615293)
|
MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS
|
(OMIM:160570)
|
MYOPATHY, CENTRONUCLEAR, 3
|
(OMIM:614408)
|
MYOPATHY, DISTAL, 3
|
(OMIM:610099)
|
MYOPATHY, DISTAL, INFANTILE-ONSET
|
(OMIM:160300)
|
MYOPATHY, DISTAL, TATEYAMA TYPE
|
(OMIM:614321)
|
MYOPATHY, MYOSIN STORAGE
|
(OMIM:608358)
|
MYOPIA 15, AUTOSOMAL DOMINANT
|
(OMIM:612717)
|
MYOPIA 17, AUTOSOMAL DOMINANT
|
(OMIM:608367)
|
MYOPIA 19, AUTOSOMAL DOMINANT
|
(OMIM:613969)
|
MYOPIA 2, AUTOSOMAL DOMINANT
|
(OMIM:160700)
|
MYOPIA 21, AUTOSOMAL DOMINANT
|
(OMIM:614167)
|
MYOPIA 22, AUTOSOMAL DOMINANT
|
(OMIM:615420)
|
MYOPIA 3, AUTOSOMAL DOMINANT
|
(OMIM:603221)
|
MYOPIA 5, AUTOSOMAL DOMINANT
|
(OMIM:608474)
|
MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS
|
(OMIM:160990)
|
Macrocephaly-autism syndrome
|
(Orphanet:210548)
|
Maculopapular cutaneous mastocytosis
|
(Orphanet:79457)
|
Male infertility due to NANOS1 mutation
|
(Orphanet:352613)
|
Malignant atrophic papulosis
|
(Orphanet:679)
|
Malignant hyperthermia
|
(Orphanet:423)
|
Mammary-digital-nail syndrome
|
(Orphanet:238744)
|
Mandibular hypoplasia-deafness-progeroid syndrome
|
(Orphanet:363649)
|
Mandibulofacial dysostosis-microcephaly syndrome
|
(Orphanet:79113)
|
Marcus-Gunn syndrome
|
(Orphanet:91412)
|
Marfan syndrome type 1
|
(Orphanet:284963)
|
Marfan syndrome type 2
|
(Orphanet:284973)
|
Marie Unna hereditary hypotrichosis
|
(Orphanet:444)
|
Marshall syndrome
|
(Orphanet:560)
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
Median nodule of the upper lip
|
(Orphanet:2699)
|
Medulloblastoma with extensive nodularity
|
(Orphanet:251858)
|
Meesmann corneal dystrophy
|
(Orphanet:98954)
|
Megalencephaly
|
(Orphanet:2477)
|
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
|
(Orphanet:83473)
|
Meige disease
|
(Orphanet:90186)
|
Melanoma and neural system tumor syndrome
|
(Orphanet:252206)
|
Melanoma-pancreatic cancer syndrome
|
(Orphanet:51013)
|
Melkersson-Rosenthal syndrome
|
(Orphanet:2483)
|
Meniere disease
|
(Orphanet:45360)
|
Mesomelia-synostoses syndrome
|
(Orphanet:2496)
|
Mesomelic dwarfism, Nievergelt type
|
(Orphanet:2633)
|
Mesomelic dwarfism, Reinhardt-Pfeiffer type
|
(Orphanet:2634)
|
Mesomelic dysplasia, Kantaputra type
|
(Orphanet:1836)
|
Mesomelic dysplasia, Savarirayan type
|
(Orphanet:85170)
|
Metachondromatosis
|
(Orphanet:2499)
|
Metachromatic leukodystrophy
|
(Orphanet:512)
|
Metaphyseal anadysplasia
|
(Orphanet:1040)
|
Metaphyseal chondrodysplasia, Jansen type
|
(Orphanet:33067)
|
Metaphyseal chondrodysplasia, Schmid type
|
(Orphanet:174)
|
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
|
(Orphanet:2504)
|
Metatropic dysplasia
|
(Orphanet:2635)
|
Microcephaly - deafness - intellectual deficit
|
(Orphanet:2533)
|
Microcephaly - lymphedema - chorioretinopathy
|
(Orphanet:2526)
|
Microcornea - glaucoma - absent frontal sinuses
|
(Orphanet:2536)
|
Microcystic corneal dystrophy
|
(Orphanet:98956)
|
Microphthalmia - cataract
|
(Orphanet:2543)
|
Microphthalmia with brain and digit anomalies
|
(Orphanet:139471)
|
Microspherophakia - metaphyseal dysplasia
|
(Orphanet:2551)
|
Microtia
|
(Orphanet:83463)
|
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
|
(Orphanet:93279)
|
Miller-Dieker syndrome
|
(Orphanet:531)
|
Milroy disease
|
(Orphanet:79452)
|
Moderate multiminicore disease with hand involvement
|
(Orphanet:178145)
|
Moebius syndrome
|
(Orphanet:570)
|
Monilethrix
|
(Orphanet:573)
|
Monocytopenia with susceptibility to infections
|
(Orphanet:228423)
|
Monosomy 13q14
|
(Orphanet:1587)
|
Monosomy 18p
|
(Orphanet:1598)
|
Monosomy 18q
|
(Orphanet:1600)
|
Monosomy 9p
|
(Orphanet:261112)
|
Morgagni-Stewart-Morel syndrome
|
(Orphanet:77296)
|
Morning glory syndrome
|
(Orphanet:35737)
|
Muckle-Wells syndrome
|
(Orphanet:575)
|
Mucocutaneous venous malformations
|
(Orphanet:2451)
|
Mucous membrane pemphigoid
|
(Orphanet:46486)
|
Muenke syndrome
|
(Orphanet:53271)
|
Muir-Torre syndrome
|
(Orphanet:587)
|
Mullerian duct anomalies - limb anomalies
|
(Orphanet:2491)
|
Multicentric carpo-tarsal osteolysis with or without nephropathy
|
(Orphanet:2774)
|
Multicystic renal dysplasia
|
(Orphanet:1851)
|
Multinodular goiter - cystic kidney - polydactyly
|
(Orphanet:2091)
|
Multiple benign circumferential skin creases on limbs
|
(Orphanet:2505)
|
Multiple endocrine neoplasia type 1
|
(Orphanet:652)
|
Multiple endocrine neoplasia type 2
|
(Orphanet:653)
|
Multiple endocrine neoplasia type 2A
|
(Orphanet:247698)
|
Multiple endocrine neoplasia type 2B
|
(Orphanet:247709)
|
Multiple endocrine neoplasia type 4
|
(Orphanet:276152)
|
Multiple epiphyseal dysplasia due to collagen 9 anomaly
|
(Orphanet:166002)
|
Multiple epiphyseal dysplasia type 1
|
(Orphanet:93308)
|
Multiple epiphyseal dysplasia type 5
|
(Orphanet:93311)
|
Multiple epiphyseal dysplasia, Beighton type
|
(Orphanet:166011)
|
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
|
(Orphanet:166029)
|
Multiple keratoacanthoma, Ferguson-Smith type
|
(Orphanet:65748)
|
Multiple osteochondromas
|
(Orphanet:321)
|
Multiple synostoses syndrome
|
(Orphanet:3237)
|
Multiple system atrophy
|
(Orphanet:102)
|
Muscle filaminopathy
|
(Orphanet:171445)
|
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
|
(Orphanet:2579)
|
Muscular dystrophy, Selcen type
|
(Orphanet:199340)
|
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
|
(Orphanet:659)
|
Myelofibrosis with myeloid metaplasia
|
(Orphanet:824)
|
Myhre syndrome
|
(Orphanet:2588)
|
Myoclonus - cerebellar ataxia - deafness
|
(Orphanet:2589)
|
Myoclonus-dystonia syndrome
|
(Orphanet:36899)
|
Myotilin-related myofibrillar myopathy without spheroid body
|
(Orphanet:98911)
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2
|
(OMIM:149300)
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5
|
(OMIM:164800)
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8
|
(OMIM:607523)
|
NAIL HIGH-SULFUR PROTEIN
|
(OMIM:161070)
|
NAIL LOW-SULFUR PROTEIN
|
(OMIM:161080)
|
NAILBEDS, PIGMENTATION OF
|
(OMIM:161100)
|
NARCOLEPSY 3
|
(OMIM:609039)
|
NARCOLEPSY 7
|
(OMIM:614250)
|
NASAL ALAR COLLAPSE, BILATERAL
|
(OMIM:161470)
|
NASAL BONES, ABSENCE OF
|
(OMIM:161480)
|
NASAL GROOVE, FAMILIAL TRANSVERSE
|
(OMIM:161500)
|
NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE
|
(OMIM:161530)
|
NAVICULAR BONE, ACCESSORY
|
(OMIM:161600)
|
NEMALINE MYOPATHY 4
|
(OMIM:609285)
|
NEMALINE MYOPATHY 6
|
(OMIM:609273)
|
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
|
(OMIM:612287)
|
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
|
(OMIM:613013)
|
NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARINGLOSS, AND ENAMEL HYPOPLASIA
|
(OMIM:603641)
|
NEUROFIBROMATOSIS, FAMILIAL SPINAL
|
(OMIM:162210)
|
NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL
|
(OMIM:162260)
|
NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI
|
(OMIM:162270)
|
NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME
|
(OMIM:162240)
|
NEURONAL INTESTINAL DYSPLASIA, TYPE B
|
(OMIM:601223)
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
|
(OMIM:608634)
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
|
(OMIM:613376)
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
|
(OMIM:615575)
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB
|
(OMIM:614751)
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB
|
(OMIM:607641)
|
NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
|
(OMIM:162370)
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
|
(OMIM:613640)
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
|
(OMIM:615548)
|
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
|
(OMIM:613708)
|
NEUROPATHY, HEREDITARY SENSORY, TYPE IE
|
(OMIM:614116)
|
NEUROPATHY, HEREDITARY SENSORY, TYPE IF
|
(OMIM:615632)
|
NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE
|
(OMIM:162600)
|
NEUTROPENIA, CHRONIC FAMILIAL
|
(OMIM:162700)
|
NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
|
(OMIM:613107)
|
NEUTROPHIL MIGRATION
|
(OMIM:162820)
|
NEVUS ANEMICUS
|
(OMIM:163050)
|
NEVUS FLAMMEUS OF NAPE OF NECK
|
(OMIM:163100)
|
NEVUS, EPIDERMAL
|
(OMIM:162900)
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3
|
(OMIM:610444)
|
NIPPLES INVERTED
|
(OMIM:163600)
|
NLRP12-associated hereditary periodic fever syndrome
|
(Orphanet:247868)
|
NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES
|
(OMIM:163850)
|
NONDISJUNCTION
|
(OMIM:158250)
|
NOONAN SYNDROME 3
|
(OMIM:609942)
|
NOONAN SYNDROME 4
|
(OMIM:610733)
|
NOONAN SYNDROME 5
|
(OMIM:611553)
|
NOONAN SYNDROME 7
|
(OMIM:613706)
|
NOONAN SYNDROME 8
|
(OMIM:615355)
|
NORMOKALEMIC PERIODIC PARALYSIS
|
(OMIM:170600)
|
NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1
|
(OMIM:138040)
|
NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT
|
(OMIM:164100)
|
NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT
|
(OMIM:608345)
|
NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
|
(OMIM:193003)
|
NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT
|
(OMIM:614826)
|
NYSTAGMUS, HEREDITARY VERTICAL
|
(OMIM:164150)
|
NYSTAGMUS, VOLUNTARY
|
(OMIM:164170)
|
Naegeli-Franceschetti-Jadassohn syndrome
|
(Orphanet:69087)
|
Nager syndrome
|
(Orphanet:245)
|
Nail-patella syndrome
|
(Orphanet:2614)
|
Nanophthalmia
|
(Orphanet:35612)
|
Narcolepsy-cataplexy
|
(Orphanet:2073)
|
Nasal dermoid cyst
|
(Orphanet:141103)
|
Nasopalpebral lipoma - coloboma - telecanthus
|
(Orphanet:2399)
|
Nemaline myopathy
|
(Orphanet:607)
|
Nephroblastoma
|
(Orphanet:654)
|
Nephrogenic diabetes insipidus
|
(Orphanet:223)
|
Nephronophthisis 14
|
(OMIM:614844)
|
Neural tube closure defect
|
(Orphanet:268357)
|
Neuralgic amyotrophy
|
(Orphanet:2901)
|
Neuroblastoma
|
(Orphanet:635)
|
Neuroectodermal syndrome, Johnson type
|
(Orphanet:2316)
|
Neuroferritinopathy
|
(Orphanet:157846)
|
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
|
(Orphanet:363700)
|
Neurofibromatosis type 2
|
(Orphanet:637)
|
Neurofibromatosis type 3
|
(Orphanet:93921)
|
Neurofibromatosis type 6
|
(Orphanet:2678)
|
Neurologic Waardenburg-Shah syndrome
|
(Orphanet:163746)
|
Non-epidermolytic palmoplantar keratoderma
|
(Orphanet:2337)
|
Non-progressive cerebellar ataxia with intellectual deficit
|
(Orphanet:314647)
|
Non-syndromic congenital cataract
|
(Orphanet:91492)
|
Noonan syndrome
|
(Orphanet:648)
|
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
|
(Orphanet:363972)
|
Noonan syndrome-like disorder with loose anagen hair
|
(Orphanet:2701)
|
Normosmic congenital hypogonadotropic hypogonadism
|
(Orphanet:432)
|
North Carolina macular dystrophy
|
(Orphanet:75327)
|
OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY
|
(OMIM:613886)
|
OBSESSIVE-COMPULSIVE DISORDER
|
(OMIM:164230)
|
OCULAR DOMINANCE
|
(OMIM:164190)
|
ODONTOID HYPOPLASIA
|
(OMIM:613628)
|
OLIVOPONTOCEREBELLAR ATROPHY V
|
(OMIM:164700)
|
ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR
|
(OMIM:164680)
|
OPHTHALMOPLEGIA, FAMILIAL STATIC
|
(OMIM:165000)
|
OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION
|
(OMIM:165098)
|
OPTIC ATROPHY 5
|
(OMIM:610708)
|
OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS
|
(OMIM:165510)
|
OROFACIAL CLEFT 1
|
(OMIM:119530)
|
OROFACIAL CLEFT 13
|
(OMIM:613857)
|
OROFACIAL CLEFT 5
|
(OMIM:608874)
|
ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
|
(OMIM:143850)
|
ORTHOSTATIC INTOLERANCE
|
(OMIM:604715)
|
OSLAM syndrome
|
(Orphanet:2760)
|
OSSICULAR MALFORMATIONS, FAMILIAL
|
(OMIM:165680)
|
OSSIFIED EAR CARTILAGES
|
(OMIM:165670)
|
OSTEOARTHRITIS SUSCEPTIBILITY 1
|
(OMIM:165720)
|
OSTEOARTHRITIS SUSCEPTIBILITY 2
|
(OMIM:140600)
|
OSTEOARTHRITIS SUSCEPTIBILITY 3
|
(OMIM:607850)
|
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION
|
(OMIM:166990)
|
OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIANBONES, BUT WITHOUT FRACTURES
|
(OMIM:166230)
|
OSTEOGENESIS IMPERFECTA, TYPE XI
|
(OMIM:610968)
|
OSTEOMAS OF MANDIBLE
|
(OMIM:166400)
|
OSTEOPOROSIS
|
(OMIM:166710)
|
OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES
|
(OMIM:166740)
|
OTOSCLEROSIS 1
|
(OMIM:166800)
|
OTOSCLEROSIS 10
|
(OMIM:615589)
|
OTOSCLEROSIS 3
|
(OMIM:608244)
|
OTOSCLEROSIS 4
|
(OMIM:611571)
|
OTOSCLEROSIS 7
|
(OMIM:611572)
|
OTOSCLEROSIS 8
|
(OMIM:612096)
|
OVALOCYTOSIS, HEREDITARY HEMOLYTIC
|
(OMIM:166900)
|
OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS
|
(OMIM:166910)
|
OVARIAN CANCEROVARIAN CANCER, EPITHELIAL, INCLUDED
|
(OMIM:167000)
|
OVARIAN FIBROMATA
|
(OMIM:166970)
|
Occult macular dystrophy
|
(Orphanet:247834)
|
Ocular albinism with congenital sensorineural deafness
|
(Orphanet:352740)
|
Oculoauriculovertebral spectrum with radial defects
|
(Orphanet:2549)
|
Oculocutaneous albinism type 6
|
(Orphanet:370097)
|
Oculodental syndrome, Rutherfurd type
|
(Orphanet:2709)
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
Oculopharyngeal muscular dystrophy
|
(Orphanet:270)
|
Oculopharyngodistal myopathy
|
(Orphanet:98897)
|
Odonto-tricho-ungual-digito-palmar syndrome
|
(Orphanet:69082)
|
Odontomatosis - aortae esophagus stenosis
|
(Orphanet:2724)
|
Okihiro syndrome
|
(Orphanet:93293)
|
Oligodontia
|
(Orphanet:99798)
|
Oligodontia - cancer predisposition syndrome
|
(Orphanet:300576)
|
Omodysplasia
|
(Orphanet:2733)
|
Omphalocele
|
(Orphanet:660)
|
Omphalocele syndrome, Shprintzen-Goldberg type
|
(Orphanet:3164)
|
Ondine syndrome
|
(Orphanet:661)
|
Ophthalmomandibulomelic dysplasia
|
(Orphanet:2741)
|
Ophthalmoplegia - intellectual deficit - lingua scrotalis
|
(Orphanet:2743)
|
Opitz G/BBB syndrome
|
(Orphanet:2745)
|
Orofaciodigital syndrome type 10
|
(Orphanet:2756)
|
Osteocraniostenosis
|
(Orphanet:2763)
|
Osteogenesis imperfecta type 1
|
(Orphanet:216796)
|
Osteogenesis imperfecta type 2
|
(Orphanet:216804)
|
Osteogenesis imperfecta type 3
|
(Orphanet:216812)
|
Osteogenesis imperfecta type 4
|
(Orphanet:216820)
|
Osteogenesis imperfecta type 5
|
(Orphanet:216828)
|
Osteoglophonic dwarfism
|
(Orphanet:2645)
|
Osteomesopyknosis
|
(Orphanet:2777)
|
Otodental syndrome
|
(Orphanet:2791)
|
Otofaciocervical syndrome
|
(Orphanet:2792)
|
Ovarian hyperstimulation syndrome
|
(Orphanet:64739)
|
Overgrowth - macrocephaly - facial dysmorphism
|
(Orphanet:137634)
|
Overhydrated hereditary stomatocytosis
|
(Orphanet:3203)
|
PACHYONYCHIA CONGENITA 2
|
(OMIM:167210)
|
PACHYONYCHIA CONGENITA 4
|
(OMIM:615728)
|
PAGET DISEASE OF BONE
|
(OMIM:602080)
|
PAGET DISEASE OF BONE 1
|
(OMIM:167250)
|
PALMOMENTAL REFLEX
|
(OMIM:167700)
|
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
|
(OMIM:600962)
|
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL
|
(OMIM:613000)
|
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
|
(OMIM:615735)
|
PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB
|
(OMIM:614936)
|
PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE
|
(OMIM:167850)
|
PAPILLOMATOSIS, CONFLUENT AND RETICULATED
|
(OMIM:167900)
|
PAPILLOMATOSIS, FLORID, OF NIPPLE
|
(OMIM:167950)
|
PARAGANGLIOMAS 1
|
(OMIM:168000)
|
PARAGANGLIOMAS 2
|
(OMIM:601650)
|
PARAGANGLIOMAS 3
|
(OMIM:605373)
|
PARAGANGLIOMAS 5
|
(OMIM:614165)
|
PARAMOLAR TUBERCLE OF BOLK
|
(OMIM:168200)
|
PARAOXONASE 1
|
(OMIM:168820)
|
PARASOMNIA, SLEEPWALKING TYPE
|
(OMIM:613938)
|
PARIETAL FORAMINA 2
|
(OMIM:609597)
|
PARIETAL FORAMINA 3
|
(OMIM:609566)
|
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
(OMIM:607688)
|
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
(OMIM:610297)
|
PARKINSON DISEASE 17
|
(OMIM:614203)
|
PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
|
(OMIM:614251)
|
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT
|
(OMIM:605543)
|
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
|
(OMIM:607060)
|
PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF
|
(OMIM:600343)
|
PAROTIDOMEGALY, HEREDITARY BILATERAL
|
(OMIM:168800)
|
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
|
(OMIM:615399)
|
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2
|
(OMIM:611147)
|
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME
|
(OMIM:606721)
|
PASSOVOY FACTOR DEFECT
|
(OMIM:168830)
|
PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS
|
(OMIM:168850)
|
PATELLA, FAMILIAL RECURRENT DISLOCATION OF
|
(OMIM:169000)
|
PECHET FACTOR DEFICIENCY
|
(OMIM:169200)
|
PECTUS EXCAVATUM
|
(OMIM:169300)
|
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS
|
(OMIM:600399)
|
PELGER-HUET ANOMALY
|
(OMIM:169400)
|
PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA
|
(OMIM:169545)
|
PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO
|
(OMIM:176780)
|
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
|
(OMIM:614674)
|
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
(OMIM:614369)
|
PERIVENTRICULAR NODULAR HETEROTOPIA 6
|
(OMIM:615544)
|
PERMANENT MOLARS, SECONDARY RETENTION OF
|
(OMIM:157950)
|
PERONEAL NERVE, ACCESSORY DEEP
|
(OMIM:170980)
|
PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME
|
(OMIM:171420)
|
PHEOCHROMOCYTOMAPHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
|
(OMIM:171300)
|
PHLEBECTASIA OF LIPS
|
(OMIM:171450)
|
PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION
|
(OMIM:172500)
|
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES
|
(OMIM:602196)
|
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
|
(OMIM:610489)
|
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
|
(OMIM:614190)
|
PIGMENTED PURPURIC ERUPTION
|
(OMIM:172900)
|
PILONIDAL SINUS
|
(OMIM:173000)
|
PITUITARY HORMONE DEFICIENCY, COMBINED, 1
|
(OMIM:613038)
|
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
|
(OMIM:613986)
|
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY
|
(OMIM:602342)
|
PLATELET AGGREGATION, SPONTANEOUS
|
(OMIM:173400)
|
PLATELET DISORDER, UNDEFINED
|
(OMIM:173420)
|
PLATELET FACTOR 3 DEFICIENCY
|
(OMIM:173450)
|
PLATELET GLYCOPROTEIN IV DEFICIENCY
|
(OMIM:608404)
|
PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED
|
(OMIM:173580)
|
PLATELET SIGNAL PROCESSING DEFECT
|
(OMIM:173590)
|
PLCG2-associated antibody deficiency and immune dysregulation
|
(Orphanet:300359)
|
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS
|
(OMIM:615704)
|
POLIOVIRUS RECEPTOR
|
(OMIM:173850)
|
POLYCYSTIC KIDNEY DISEASE 1
|
(OMIM:173900)
|
POLYCYSTIC KIDNEY DISEASE 2
|
(OMIM:613095)
|
POLYCYSTIC OVARY SYNDROME 1
|
(OMIM:184700)
|
POLYDACTYLY, POSTAXIAL, TYPE A2
|
(OMIM:602085)
|
POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI
|
(OMIM:175505)
|
POLYPOSIS SYNDROME, HEREDITARY MIXED, 2
|
(OMIM:610069)
|
POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE
|
(OMIM:175400)
|
POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES
|
(OMIM:175450)
|
POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL
|
(OMIM:175510)
|
POPLITEAL CYST
|
(OMIM:175750)
|
PORENCEPHALY 2
|
(OMIM:614483)
|
POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE
|
(OMIM:612353)
|
POROKERATOSIS 7, DISSEMINATED SUPERFICIAL ACTINIC TYPE
|
(OMIM:614714)
|
PORTAL VEIN, CAVERNOUS TRANSFORMATION OF
|
(OMIM:601004)
|
POSTERIOR COLUMN ATAXIA
|
(OMIM:176250)
|
PREAURICULAR FISTULAE, CONGENITAL
|
(OMIM:128700)
|
PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1
|
(OMIM:610420)
|
PRECOCIOUS PUBERTY, CENTRAL, 2
|
(OMIM:615346)
|
PREECLAMPSIA/ECLAMPSIA 5
|
(OMIM:614595)
|
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1
|
(OMIM:614389)
|
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
|
(OMIM:614390)
|
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3
|
(OMIM:614391)
|
PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1
|
(OMIM:176390)
|
PREMATURE CHROMATID SEPARATION TRAIT
|
(OMIM:176430)
|
PREMATURE OVARIAN FAILURE 3
|
(OMIM:608996)
|
PRESENILE DEMENTIA, KRAEPELIN TYPE
|
(OMIM:176600)
|
PRESENILIN 1
|
(OMIM:104311)
|
PRIAPISM, FAMILIAL IDIOPATHIC
|
(OMIM:176620)
|
PRIMARY RELEASE DISORDER OF PLATELETS
|
(OMIM:176630)
|
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES
|
(OMIM:602249)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2
|
(OMIM:609283)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3
|
(OMIM:609286)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4
|
(OMIM:610131)
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5
|
(OMIM:613077)
|
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
|
(OMIM:604559)
|
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II
|
(OMIM:140400)
|
PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF
|
(OMIM:176800)
|
PROSOPAGNOSIA, HEREDITARY
|
(OMIM:610382)
|
PROSTATE CANCER, HEREDITARY, 1
|
(OMIM:601518)
|
PROSTATIC HYPERPLASIA, BENIGN
|
(OMIM:600082)
|
PROTRUSIO ACETABULI
|
(OMIM:177050)
|
PSEUDOARTHROGRYPOSIS
|
(OMIM:177300)
|
PSEUDOATROPHODERMA COLLI
|
(OMIM:177350)
|
PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF
|
(OMIM:177600)
|
PTERYGIUM COLLI, ISOLATED
|
(OMIM:177990)
|
PUBIC BONE DYSPLASIA
|
(OMIM:178350)
|
PULMONARY EDEMA OF MOUNTAINEERS, SUSCEPTIBILITY TO
|
(OMIM:178400)
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
|
(OMIM:614742)
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
|
(OMIM:614743)
|
PULMONARY HYPERTENSION, PRIMARY, 2
|
(OMIM:615342)
|
PULMONARY HYPERTENSION, PRIMARY, 3
|
(OMIM:615343)
|
PULMONARY HYPERTENSION, PRIMARY, 4
|
(OMIM:615344)
|
PULMONIC STENOSIS AND DEAFNESS
|
(OMIM:178651)
|
PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHICABNORMALITIES
|
(OMIM:178650)
|
PUPIL, EGG-SHAPED
|
(OMIM:178800)
|
PUPILLARY MEMBRANE, PERSISTENCE OF
|
(OMIM:178900)
|
PURPURA SIMPLEX
|
(OMIM:179000)
|
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1
|
(OMIM:179010)
|
Pachydermoperiostosis
|
(Orphanet:2796)
|
Pachyonychia congenita
|
(Orphanet:2309)
|
Pacman dysplasia
|
(Orphanet:1952)
|
Pai syndrome
|
(Orphanet:1993)
|
Pallister-Hall syndrome
|
(Orphanet:672)
|
Palmoplantar keratoderma-deafness syndrome
|
(Orphanet:2202)
|
Palmoplantar keratoderma-esophageal carcinoma syndrome
|
(Orphanet:2198)
|
Palmoplantar keratoderma-sclerodactyly syndrome
|
(Orphanet:384)
|
Palmoplantar keratoderma-spastic paralysis syndrome
|
(Orphanet:2201)
|
Pancreatic adenoma
|
(Orphanet:93292)
|
Papillary or follicular thyroid carcinoma
|
(Orphanet:146)
|
Paramyotonia congenita of Von Eulenburg
|
(Orphanet:684)
|
Parastremmatic dwarfism
|
(Orphanet:2646)
|
Parathyroid carcinoma
|
(Orphanet:143)
|
Parietal foramina
|
(Orphanet:60015)
|
Parietal foramina with cleidocranial dysplasia
|
(Orphanet:251290)
|
Parkinsonian-pyramidal syndrome
|
(Orphanet:171695)
|
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
|
(Orphanet:53583)
|
Paroxysmal exertion-induced dyskinesia
|
(Orphanet:98811)
|
Paroxysmal extreme pain disorder
|
(Orphanet:46348)
|
Paroxysmal kinesigenic dyskinesia
|
(Orphanet:98809)
|
Paroxysmal non-kinesigenic dyskinesia
|
(Orphanet:98810)
|
Partial congenital cataract
|
(Orphanet:98992)
|
Partial pancreatic agenesis
|
(Orphanet:2805)
|
Patella aplasia/hypoplasia
|
(Orphanet:86789)
|
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
|
(Orphanet:228190)
|
Pelvis-shoulder dysplasia
|
(Orphanet:2839)
|
Pemphigus vulgaris
|
(Orphanet:704)
|
Peripheral dysostosis
|
(Orphanet:1795)
|
Perry syndrome
|
(Orphanet:178509)
|
Persistent polyclonal B-cell lymphocytosis
|
(Orphanet:300324)
|
Peutz-Jeghers syndrome
|
(Orphanet:2869)
|
Pfeiffer syndrome
|
(Orphanet:710)
|
Phocomelia - ectrodactyly - deafness - sinus arrhythmia
|
(Orphanet:2878)
|
Photosensitive epilepsy
|
(Orphanet:166409)
|
Piebald trait - neurologic defects
|
(Orphanet:2885)
|
Piebaldism
|
(Orphanet:2884)
|
Pigeon-breeder lung disease
|
(Orphanet:99908)
|
Pili torti
|
(Orphanet:2889)
|
Pilomatrixoma
|
(Orphanet:91414)
|
Pitt-Hopkins syndrome
|
(Orphanet:2896)
|
Pituitary dermoid and epidermoid cysts
|
(Orphanet:91351)
|
Pityriasis rubra pilaris
|
(Orphanet:2897)
|
Platelet storage pool disease
|
(Orphanet:98454)
|
Platyspondylic dysplasia, Torrance type
|
(Orphanet:85166)
|
Pleuropulmonary blastoma family tumor susceptibility syndrome
|
(Orphanet:284343)
|
Poland syndrome
|
(Orphanet:2911)
|
Polycythemia vera
|
(Orphanet:729)
|
Polydactyly of an index finger
|
(Orphanet:93337)
|
Polydactyly-myopia syndrome
|
(Orphanet:2917)
|
Polysyndactyly
|
(Orphanet:93338)
|
Polyvalvular heart disease syndrome
|
(Orphanet:228410)
|
Porencephaly
|
(Orphanet:2940)
|
Porokeratosis of Mibelli
|
(Orphanet:735)
|
Porokeratosis plantaris palmaris et disseminata
|
(Orphanet:737)
|
Porphyria cutanea tarda
|
(Orphanet:101330)
|
Porphyria variegata
|
(Orphanet:79473)
|
Postaxial tetramelic oligodactyly
|
(Orphanet:2730)
|
Posterior amorphous corneal dystrophy
|
(Orphanet:98971)
|
Posterior fusion of lumbosacral vertebrae - blepharoptosis
|
(Orphanet:2064)
|
Posterior polymorphous corneal dystrophy
|
(Orphanet:98973)
|
Potassium-aggravated myotonia
|
(Orphanet:612)
|
Preeclampsia
|
(Orphanet:275555)
|
Pretibial dystrophic epidermolysis bullosa
|
(Orphanet:79410)
|
Primary basilar impression
|
(Orphanet:2285)
|
Primary biliary cirrhosis
|
(Orphanet:186)
|
Primary dystonia, DYT13 type
|
(Orphanet:98807)
|
Primary dystonia, DYT21 type
|
(Orphanet:306734)
|
Primary dystonia, DYT4 type
|
(Orphanet:98805)
|
Primary dystonia, DYT6 type
|
(Orphanet:98806)
|
Primary familial polycythemia
|
(Orphanet:90042)
|
Primary lateral sclerosis
|
(Orphanet:35689)
|
Primary parathyroids hyperplasia
|
(Orphanet:99878)
|
Primary pigmented nodular adrenocortical disease
|
(Orphanet:189439)
|
Progeria - short stature - pigmented nevi
|
(Orphanet:2959)
|
Progressive bifocal chorioretinal atrophy
|
(Orphanet:75373)
|
Progressive cone dystrophy
|
(Orphanet:1871)
|
Progressive non-fluent aphasia
|
(Orphanet:100070)
|
Progressive osseous heteroplasia
|
(Orphanet:2762)
|
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
|
(Orphanet:228012)
|
Progressive symmetric erythrokeratodermia
|
(Orphanet:316)
|
Protein R deficiency
|
(Orphanet:2967)
|
Protein S acquired deficiency
|
(Orphanet:26349)
|
Proximal radioulnar synostosis
|
(Orphanet:3269)
|
Proximal symphalangism
|
(Orphanet:3250)
|
Pruritic urticarial papules and plaques of pregnancy
|
(Orphanet:64745)
|
Pseudoachondroplasia
|
(Orphanet:750)
|
Pseudohyperaldosteronism type 2
|
(Orphanet:88660)
|
Pseudohypoaldosteronism type 2
|
(Orphanet:757)
|
Pseudohypoaldosteronism type 2B
|
(Orphanet:88939)
|
Pseudohypoaldosteronism type 2C
|
(Orphanet:88940)
|
Pseudohypoaldosteronism type 2D
|
(Orphanet:300525)
|
Pseudohypoaldosteronism type 2E
|
(Orphanet:300530)
|
Pseudohypoparathyroidism type 1B
|
(Orphanet:94089)
|
Pseudohypoparathyroidism type 1C
|
(Orphanet:79444)
|
Pseudopseudohypoparathyroidism
|
(Orphanet:79445)
|
Pseudoxanthoma elasticum
|
(Orphanet:758)
|
Pterygium of the conjunctiva, familial form
|
(Orphanet:2989)
|
Ptosis - strabismus - ectopic pupils
|
(Orphanet:2999)
|
Ptosis - vocal cord paralysis
|
(Orphanet:2997)
|
Pulmonary atresia with ventricular septal defect
|
(Orphanet:1207)
|
Pulmonary nodular lymphoid hyperplasia
|
(Orphanet:60026)
|
Punctate palmoplantar keratoderma type 1
|
(Orphanet:79501)
|
Punctate palmoplantar keratoderma type 2
|
(Orphanet:79502)
|
Pure hair and nail ectodermal dysplasia
|
(Orphanet:69084)
|
Pyogenic arthritis - pyoderma gangrenosum - acne
|
(Orphanet:69126)
|
QUESTION MARK EARS, ISOLATED
|
(OMIM:612798)
|
Quebec platelet disorder
|
(Orphanet:220436)
|
RAGWEED SENSITIVITY
|
(OMIM:179450)
|
RAINDROP HYPOPIGMENTATION
|
(OMIM:179500)
|
RAPP-HODGKIN SYNDROME
|
(OMIM:129400)
|
RAYNAUD DISEASE
|
(OMIM:179600)
|
RECOVERIN
|
(OMIM:179618)
|
RED CELL PERMEABILITY DEFECT
|
(OMIM:179650)
|
RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS
|
(OMIM:179700)
|
REGENERATING ISLET-DERIVED 1-ALPHA
|
(OMIM:167770)
|
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
|
(OMIM:601331)
|
RENIN
|
(OMIM:179820)
|
RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1
|
(OMIM:102300)
|
RETINAL CONE DYSTROPHY 3A
|
(OMIM:610024)
|
RETINAL DETACHMENT
|
(OMIM:180050)
|
RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT
|
(OMIM:180070)
|
RETINAL VENOUS BEADING
|
(OMIM:180080)
|
RETINITIS PIGMENTOSA 11
|
(OMIM:600138)
|
RETINITIS PIGMENTOSA 13
|
(OMIM:600059)
|
RETINITIS PIGMENTOSA 17
|
(OMIM:600852)
|
RETINITIS PIGMENTOSA 18
|
(OMIM:601414)
|
RETINITIS PIGMENTOSA 27
|
(OMIM:613750)
|
RETINITIS PIGMENTOSA 30
|
(OMIM:607921)
|
RETINITIS PIGMENTOSA 31
|
(OMIM:609923)
|
RETINITIS PIGMENTOSA 33
|
(OMIM:610359)
|
RETINITIS PIGMENTOSA 35
|
(OMIM:610282)
|
RETINITIS PIGMENTOSA 37
|
(OMIM:611131)
|
RETINITIS PIGMENTOSA 4
|
(OMIM:613731)
|
RETINITIS PIGMENTOSA 42
|
(OMIM:612943)
|
RETINITIS PIGMENTOSA 44
|
(OMIM:613769)
|
RETINITIS PIGMENTOSA 48
|
(OMIM:613827)
|
RETINITIS PIGMENTOSA 50
|
(OMIM:613194)
|
RETINITIS PIGMENTOSA 60
|
(OMIM:613983)
|
RETINITIS PIGMENTOSA 63
|
(OMIM:614494)
|
RETINITIS PIGMENTOSA 7
|
(OMIM:608133)
|
RETINITIS PIGMENTOSA 9
|
(OMIM:180104)
|
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT
|
(OMIM:180210)
|
RETINOSCHISIS, AUTOSOMAL DOMINANT
|
(OMIM:180270)
|
RHEUMATOID NODULOSIS
|
(OMIM:180350)
|
RHINY
|
(OMIM:180360)
|
RIENHOFF SYNDROME
|
(OMIM:615582)
|
RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL
|
(OMIM:610338)
|
RIPPLING MUSCLE DISEASE
|
(OMIM:606072)
|
ROBINOW-SORAUF SYNDROME
|
(OMIM:180750)
|
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED
|
(OMIM:300643)
|
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
|
(Orphanet:2252)
|
Radial ray hypoplasia - choanal atresia
|
(Orphanet:3026)
|
Radio-renal syndrome
|
(Orphanet:3015)
|
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
|
(Orphanet:71289)
|
Ramsay-Hunt syndrome
|
(Orphanet:3020)
|
Rapid-onset dystonia-parkinsonism
|
(Orphanet:71517)
|
Rare isolated myopia
|
(Orphanet:98619)
|
Rare lichen planus
|
(Orphanet:254367)
|
Reading seizures
|
(Orphanet:166433)
|
Recombinant 8 syndrome
|
(Orphanet:96167)
|
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
|
(Orphanet:251523)
|
Reis-Bücklers corneal dystrophy
|
(Orphanet:98961)
|
Renal coloboma syndrome
|
(Orphanet:1475)
|
Renal glucosuria
|
(Orphanet:69076)
|
Renal pseudohypoaldosteronism type 1
|
(Orphanet:171871)
|
Reticulate acropigmentation of Kitamura
|
(Orphanet:178307)
|
Retinal arterial tortuosity
|
(Orphanet:75326)
|
Retinal macular dystrophy type 2
|
(Orphanet:319640)
|
Retinoblastoma
|
(Orphanet:790)
|
Retinopathy - anemia- central nervous system anomalies
|
(Orphanet:3088)
|
Reynolds syndrome
|
(Orphanet:779)
|
Rieger anomaly
|
(Orphanet:91483)
|
Ring dermoid of cornea
|
(Orphanet:91481)
|
Ringed hair disease
|
(Orphanet:169)
|
Rippling muscle disease
|
(Orphanet:97238)
|
Robin sequence - oligodactyly
|
(Orphanet:3104)
|
Rolandic epilepsy - speech dyspraxia
|
(Orphanet:163721)
|
Rombo syndrome
|
(Orphanet:3110)
|
Roussy-Lévy syndrome
|
(Orphanet:3115)
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
(Orphanet:353277)
|
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
|
(Orphanet:353284)
|
Ruvalcaba syndrome
|
(Orphanet:3121)
|
SALIVARY DUCT CALCULI
|
(OMIM:181010)
|
SALIVARY GLAND ADENOMA, PLEOMORPHIC
|
(OMIM:181030)
|
SANTOS SYNDROME
|
(OMIM:613005)
|
SARCOIDOSIS, EARLY-ONSET
|
(OMIM:609464)
|
SCAPULA, CONTOUR OF VERTEBRAL BORDER OF
|
(OMIM:181300)
|
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED
|
(OMIM:181430)
|
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
|
(OMIM:181405)
|
SCHAAF-YANG SYNDROME
|
(OMIM:615547)
|
SCHIZOPHRENIA
|
(OMIM:181500)
|
SCHIZOPHRENIA 1
|
(OMIM:181510)
|
SCHIZOPHRENIA 10
|
(OMIM:605419)
|
SCHIZOPHRENIA 4
|
(OMIM:600850)
|
SCHWANNOMATOSIS 2
|
(OMIM:615670)
|
SCLEROSTEOSIS 2
|
(OMIM:614305)
|
SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE
|
(OMIM:601700)
|
SEBASTIAN SYNDROME
|
(OMIM:605249)
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
|
(OMIM:605751)
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 2
|
(OMIM:121201)
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 3
|
(OMIM:608217)
|
SELLA TURCICA, BRIDGED
|
(OMIM:182200)
|
SHORT QT SYNDROME 2
|
(OMIM:609621)
|
SHORT QT SYNDROME 3
|
(OMIM:609622)
|
SHORT SLEEPER
|
(OMIM:612975)
|
SHORT syndrome
|
(Orphanet:3163)
|
SIMOSA CRANIOFACIAL SYNDROME
|
(OMIM:182150)
|
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION
|
(OMIM:182255)
|
SLIPPED FEMORAL CAPITAL EPIPHYSES
|
(OMIM:182260)
|
SOTOS SYNDROME 2
|
(OMIM:614753)
|
SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS
|
(OMIM:182800)
|
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION
|
(OMIM:607565)
|
SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA
|
(OMIM:182830)
|
SPECIFIC LANGUAGE IMPAIRMENT 5
|
(OMIM:615432)
|
SPECTRIN, BETA, ERYTHROCYTIC
|
(OMIM:182870)
|
SPERMATOGENIC FAILURE 10
|
(OMIM:614822)
|
SPERMATOGENIC FAILURE 11
|
(OMIM:615081)
|
SPERMATOGENIC FAILURE 3
|
(OMIM:606766)
|
SPERMATOGENIC FAILURE 4
|
(OMIM:270960)
|
SPHEROCYTOSIS, TYPE 4
|
(OMIM:612653)
|
SPINAL DYSPLASIA, ANHALT TYPE
|
(OMIM:601344)
|
SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE
|
(OMIM:182970)
|
SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY
|
(OMIM:183050)
|
SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS
|
(OMIM:183100)
|
SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T HELPER CELLS
|
(OMIM:183350)
|
SPLIT LOWER LIP
|
(OMIM:183400)
|
SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA
|
(OMIM:183500)
|
SPLIT-HAND/FOOT MALFORMATION 4
|
(OMIM:605289)
|
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2
|
(OMIM:183840)
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
(OMIM:607944)
|
SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY
|
(OMIM:183850)
|
SPONDYLOLISTHESIS
|
(OMIM:184200)
|
SPONDYLOSIS, CERVICAL
|
(OMIM:184300)
|
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
|
(OMIM:606688)
|
STARGARDT DISEASE 3
|
(OMIM:600110)
|
STARGARDT DISEASE 4
|
(OMIM:603786)
|
STERNUM, PREMATURE OBLITERATION OF SUTURES OF
|
(OMIM:184800)
|
STORM SYNDROME
|
(OMIM:185069)
|
STRIAE DISTENSAE, FAMILIAL
|
(OMIM:185200)
|
STUTTERING, FAMILIAL PERSISTENT, 1
|
(OMIM:184450)
|
SULFHEMOGLOBINEMIA, CONGENITAL
|
(OMIM:185460)
|
SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL
|
(OMIM:601708)
|
SUPRANUCLEAR PALSY, PROGRESSIVE, 2
|
(OMIM:609454)
|
SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D
|
(OMIM:178635)
|
SYMPHALANGISM OF TOES
|
(OMIM:185600)
|
SYMPHALANGISM, C. S. LEWIS TYPE
|
(OMIM:185650)
|
SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH
|
(OMIM:606895)
|
SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM
|
(OMIM:186575)
|
SYRINGOMAS, MULTIPLE
|
(OMIM:186600)
|
SYSTEMIC LUPUS ERYTHEMATOSUS
|
(OMIM:152700)
|
Saethre-Chotzen syndrome
|
(Orphanet:794)
|
Sakati-Nyhan syndrome
|
(Orphanet:3128)
|
Say-Field-Coldwell syndrome
|
(Orphanet:3133)
|
Scalp defects - postaxial polydactyly
|
(Orphanet:1003)
|
Scalp-ear-nipple syndrome
|
(Orphanet:2036)
|
Scapuloperoneal amyotrophy
|
(Orphanet:85146)
|
Schilbach-Rott syndrome
|
(Orphanet:2353)
|
Schinzel-Giedion syndrome
|
(Orphanet:798)
|
Schistosomiasis
|
(Orphanet:1247)
|
Sebocystomatosis
|
(Orphanet:841)
|
Seborrhea-like dermatitis with psoriasiform elements
|
(Orphanet:168606)
|
Second branchial cleft anomaly
|
(Orphanet:141022)
|
Selective pituitary resistance to thyroid hormone
|
(Orphanet:165994)
|
Sensorineural deafness with dilated cardiomyopathy
|
(Orphanet:217622)
|
Septo-optic dysplasia
|
(Orphanet:3157)
|
Severe congenital hypochromic anemia with ringed sideroblasts
|
(Orphanet:300298)
|
Sheldon-Hall syndrome
|
(Orphanet:1147)
|
Short stature - craniofacial anomalies - genital hypoplasia
|
(Orphanet:2994)
|
Short stature - pituitary and cerebellar defects - small sella turcica
|
(Orphanet:85442)
|
Short stature - valvular heart disease - characteristic facies
|
(Orphanet:2868)
|
Short tarsus - absence of lower eyelashes
|
(Orphanet:2832)
|
Shprintzen-Goldberg syndrome
|
(Orphanet:2462)
|
Sialuria
|
(Orphanet:3166)
|
Sillence syndrome
|
(Orphanet:3168)
|
Singleton-Merten dysplasia
|
(Orphanet:85191)
|
Small cell lung cancer
|
(Orphanet:70573)
|
Smith-Magenis syndrome
|
(Orphanet:819)
|
Sneddon syndrome
|
(Orphanet:820)
|
Snowflake vitreoretinal degeneration
|
(Orphanet:91496)
|
Sodium channelopathy-related small fiber neuropathy
|
(Orphanet:306577)
|
Solitary median maxillary central incisor syndrome
|
(Orphanet:2286)
|
Sorsby's fundus dystrophy
|
(Orphanet:59181)
|
Sotos syndrome
|
(Orphanet:821)
|
Spastic ataxia with congenital miosis
|
(Orphanet:1182)
|
Spastic paraplegia - epilepsy - intellectual deficit
|
(Orphanet:2816)
|
Spastic paraplegia - nephritis - deafness
|
(Orphanet:2820)
|
Spastic paraplegia - neuropathy - poikiloderma
|
(Orphanet:2821)
|
Spastic paraplegia 33, autosomal dominant
|
(OMIM:610244)
|
Spheroid body myopathy
|
(Orphanet:268129)
|
Spinocerebellar ataxia type 1
|
(Orphanet:98755)
|
Spinocerebellar ataxia type 10
|
(Orphanet:98761)
|
Spinocerebellar ataxia type 11
|
(Orphanet:98767)
|
Spinocerebellar ataxia type 12
|
(Orphanet:98762)
|
Spinocerebellar ataxia type 13
|
(Orphanet:98768)
|
Spinocerebellar ataxia type 14
|
(Orphanet:98763)
|
Spinocerebellar ataxia type 15/16
|
(Orphanet:98769)
|
Spinocerebellar ataxia type 17
|
(Orphanet:98759)
|
Spinocerebellar ataxia type 18
|
(Orphanet:98771)
|
Spinocerebellar ataxia type 19/22
|
(Orphanet:98772)
|
Spinocerebellar ataxia type 2
|
(Orphanet:98756)
|
Spinocerebellar ataxia type 20
|
(Orphanet:101110)
|
Spinocerebellar ataxia type 21
|
(Orphanet:98773)
|
Spinocerebellar ataxia type 23
|
(Orphanet:101108)
|
Spinocerebellar ataxia type 25
|
(Orphanet:101111)
|
Spinocerebellar ataxia type 26
|
(Orphanet:101112)
|
Spinocerebellar ataxia type 27
|
(Orphanet:98764)
|
Spinocerebellar ataxia type 28
|
(Orphanet:101109)
|
Spinocerebellar ataxia type 29
|
(Orphanet:208513)
|
Spinocerebellar ataxia type 3
|
(Orphanet:98757)
|
Spinocerebellar ataxia type 30
|
(Orphanet:211017)
|
Spinocerebellar ataxia type 31
|
(Orphanet:217012)
|
Spinocerebellar ataxia type 35
|
(Orphanet:276193)
|
Spinocerebellar ataxia type 36
|
(Orphanet:276198)
|
Spinocerebellar ataxia type 4
|
(Orphanet:98765)
|
Spinocerebellar ataxia type 5
|
(Orphanet:98766)
|
Spinocerebellar ataxia type 6
|
(Orphanet:98758)
|
Spinocerebellar ataxia type 7
|
(Orphanet:94147)
|
Spinocerebellar ataxia type 8
|
(Orphanet:98760)
|
Splenogonadal fusion - limb defects - micrognathia
|
(Orphanet:2063)
|
Split hand - urinary anomalies - spina bifida
|
(Orphanet:2437)
|
Split hand-split foot malformation
|
(Orphanet:2440)
|
Spondyloepimetaphyseal dysplasia - hypotrichosis
|
(Orphanet:168443)
|
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
|
(Orphanet:93346)
|
Spondyloepimetaphyseal dysplasia with multiple dislocations
|
(Orphanet:93360)
|
Spondyloepiphyseal dysplasia congenita
|
(Orphanet:94068)
|
Spondyloepiphyseal dysplasia tarda
|
(Orphanet:93284)
|
Spondyloepiphyseal dysplasia, Cantu type
|
(Orphanet:163654)
|
Spondyloepiphyseal dysplasia, Kimberley type
|
(Orphanet:93283)
|
Spondyloepiphyseal dysplasia, MacDermot type
|
(Orphanet:163668)
|
Spondyloepiphyseal dysplasia, Maroteaux type
|
(Orphanet:263482)
|
Spondyloepiphyseal dysplasia, Reardon type
|
(Orphanet:163662)
|
Spondylometaphyseal dysplasia, 'corner fracture' type
|
(Orphanet:93315)
|
Spondylometaphyseal dysplasia, Kozlowski type
|
(Orphanet:93314)
|
Spondylometaphyseal dysplasia, Schmidt type
|
(Orphanet:93316)
|
Spondyloperipheral dysplasia - short ulna
|
(Orphanet:1856)
|
Sprengel deformity
|
(Orphanet:3181)
|
Stapes ankylosis with broad thumbs and toes
|
(Orphanet:140917)
|
Steatocystoma multiplex - natal teeth
|
(Orphanet:3184)
|
Stern-Lubinsky-Durrie syndrome
|
(Orphanet:3194)
|
Stickler syndrome
|
(Orphanet:828)
|
Stickler syndrome type 2
|
(Orphanet:90654)
|
Stickler syndrome type 3
|
(Orphanet:166100)
|
Stiff skin syndrome
|
(Orphanet:2833)
|
Stormorken-Sjaastad-Langslet syndrome
|
(Orphanet:3204)
|
Suarez-Stickler syndrome
|
(Orphanet:166277)
|
Subepithelial mucinous corneal dystrophy
|
(Orphanet:98959)
|
Superficial epidermolytic ichthyosis
|
(Orphanet:455)
|
Supravalvular aortic stenosis
|
(Orphanet:3193)
|
Symphalangism with multiple anomalies of hands and feet
|
(Orphanet:3246)
|
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
|
(Orphanet:357332)
|
Syndactyly type 3
|
(Orphanet:93404)
|
Syndactyly type 4
|
(Orphanet:93405)
|
Syndactyly type 5
|
(Orphanet:93406)
|
Syndactyly-polydactyly-ear lobe syndrome
|
(Orphanet:3259)
|
Syndromic microphthalmia type 5
|
(Orphanet:178364)
|
Syndromic orbital border hypoplasia
|
(Orphanet:98606)
|
Synpolydactyly type 1
|
(Orphanet:295195)
|
Synpolydactyly type 2
|
(Orphanet:295197)
|
Syringomyelia
|
(Orphanet:3280)
|
T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1
|
(OMIM:187040)
|
T-CELL LEUKEMIA, HOMEOBOX 1
|
(OMIM:186770)
|
T-CELL LEUKEMIA/LYMPHOMA 4
|
(OMIM:186860)
|
TALONAVICULAR COALITION
|
(OMIM:186750)
|
TARSAL COALITION
|
(OMIM:186850)
|
TARSAL-CARPAL COALITION SYNDROME
|
(OMIM:186570)
|
TEETH PRESENT AT BIRTH
|
(OMIM:187050)
|
TEETH, ODD SHAPES OFLOBODONTIA, INCLUDED
|
(OMIM:187000)
|
TEETH, SUPERNUMERARY
|
(OMIM:187100)
|
TELANGIECTASIA, HEREDITARY BENIGN
|
(OMIM:187260)
|
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4
|
(OMIM:610655)
|
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5
|
(OMIM:615506)
|
TELECANTHUS
|
(OMIM:187350)
|
TENTED EYEBROWS
|
(OMIM:611426)
|
TERATOMA, OVARIAN
|
(OMIM:166950)
|
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
|
(OMIM:615542)
|
TETRALOGY OF FALLOT AND GLAUCOMA
|
(OMIM:187501)
|
THALASSEMIA, BETA+, SILENT ALLELE
|
(OMIM:187550)
|
THANATOPHORIC DYSPLASIA, TYPE II
|
(OMIM:187601)
|
THEOPHYLLINE BIOTRANSFORMATION
|
(OMIM:187650)
|
THIOUREA TASTINGPHENYLTHIOCARBAMIDE TASTING, INCLUDED
|
(OMIM:171200)
|
THORACIC DYSOSTOSIS, ISOLATED
|
(OMIM:187750)
|
THORACOPELVIC DYSOSTOSIS
|
(OMIM:187770)
|
THROMBOCYTHEMIA 2
|
(OMIM:601977)
|
THROMBOCYTHEMIA 3
|
(OMIM:614521)
|
THROMBOCYTOPENIA 4
|
(OMIM:612004)
|
THROMBOCYTOPENIA, CYCLIC
|
(OMIM:188020)
|
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE
|
(OMIM:188055)
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
(OMIM:188050)
|
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGENACTIVATOR
|
(OMIM:612348)
|
THUMB DEFORMITY
|
(OMIM:188100)
|
THYROID CARCINOMA, PAPILLARY
|
(OMIM:188550)
|
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
|
(OMIM:188560)
|
TIBIAL TORSION, BILATERAL MEDIAL
|
(OMIM:188800)
|
TOE, ROTATED FIFTH
|
(OMIM:189150)
|
TOES, RELATIVE LENGTH OF FIRST AND SECOND
|
(OMIM:189200)
|
TOES, SPACE BETWEEN FIRST AND SECOND
|
(OMIM:189230)
|
TOOTH AGENESIS, SELECTIVE, 3
|
(OMIM:604625)
|
TOOTH AGENESIS, SELECTIVE, 4
|
(OMIM:150400)
|
TORSION DYSTONIA WITH ONSET IN INFANCY
|
(OMIM:602554)
|
TORTICOLLIS
|
(OMIM:189600)
|
TORUS PALATINUS AND TORUS MANDIBULARIS
|
(OMIM:189700)
|
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2
|
(OMIM:613853)
|
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3
|
(OMIM:613854)
|
TRAPS syndrome
|
(Orphanet:32960)
|
TREACHER COLLINS SYNDROME 2
|
(OMIM:613717)
|
TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS
|
(OMIM:190200)
|
TREMOR, HEREDITARY ESSENTIAL, 1
|
(OMIM:190300)
|
TREMOR, HEREDITARY ESSENTIAL, 2
|
(OMIM:602134)
|
TREMOR, HEREDITARY ESSENTIAL, 4
|
(OMIM:614782)
|
TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS
|
(OMIM:611808)
|
TRICHILEMMAL CYST 1
|
(OMIM:609649)
|
TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC
|
(OMIM:190345)
|
TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
(OMIM:190351)
|
TRICHOTILLOMANIA
|
(OMIM:613229)
|
TRIGGER THUMB
|
(OMIM:190410)
|
TRIGLYCERIDE STORAGE DISEASE, TYPE II
|
(OMIM:190430)
|
TRIGONOCEPHALY 2
|
(OMIM:614485)
|
TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES
|
(OMIM:190500)
|
TRIPHALANGEAL THUMB, NONOPPOSABLE
|
(OMIM:190600)
|
TRISTICHIASIS
|
(OMIM:190800)
|
TUBEROUS SCLEROSIS 2
|
(OMIM:613254)
|
TUFTSIN DEFICIENCY
|
(OMIM:191150)
|
TUNE DEAFNESS
|
(OMIM:191200)
|
TWINNING DUE TO SUPERFETATION
|
(OMIM:191250)
|
Tarsal-carpal coalition syndrome
|
(Orphanet:1412)
|
Tetralogy of Fallot
|
(Orphanet:3303)
|
Tetramelic monodactyly
|
(Orphanet:2564)
|
Thanatophoric dysplasia type 1
|
(Orphanet:1860)
|
Thickened earlobes - conductive deafness
|
(Orphanet:2405)
|
Thiel-Behnke corneal dystrophy
|
(Orphanet:98960)
|
Thiemann disease, familial form
|
(Orphanet:3314)
|
Thomsen and Becker disease
|
(Orphanet:614)
|
Thoracolaryngopelvic dysplasia
|
(Orphanet:3317)
|
Thumb deformity - alopecia - pigmentation anomaly
|
(Orphanet:2251)
|
Thumb stiffness - brachydactyly - intellectual deficit
|
(Orphanet:1078)
|
Tibial aplasia - ectrodactyly
|
(Orphanet:3329)
|
Tibial muscular dystrophy
|
(Orphanet:609)
|
Tietz syndrome
|
(Orphanet:42665)
|
Toriello-Lacassie-Droste syndrome
|
(Orphanet:3339)
|
Total congenital cataract
|
(Orphanet:98994)
|
Townes-Brocks syndrome
|
(Orphanet:857)
|
Tracheobronchopathia osteochondroplastica
|
(Orphanet:3348)
|
Transient bullous dermolysis of the newborn
|
(Orphanet:79411)
|
Treacher-Collins syndrome
|
(Orphanet:861)
|
Tremor - nystagmus - duodenal ulcer
|
(Orphanet:3350)
|
Tricho-dento-osseous syndrome
|
(Orphanet:3352)
|
Tricho-retino-dento-digital syndrome
|
(Orphanet:1264)
|
Trichodental syndrome
|
(Orphanet:3351)
|
Trichodysplasia - xeroderma
|
(Orphanet:3361)
|
Trichomegaly - cataract - hereditary spherocytosis
|
(Orphanet:3362)
|
Trichorhinophalangeal syndrome type 1 and 3
|
(Orphanet:77258)
|
Trigeminal neuralgia
|
(Orphanet:221091)
|
Triphalangeal thumb - polysyndactyly syndrome
|
(Orphanet:2950)
|
Triphalangeal thumbs - brachyectrodactyly
|
(Orphanet:2947)
|
Trismus - pseudocamptodactyly
|
(Orphanet:3377)
|
Tritanopia
|
(Orphanet:88629)
|
Tropical pancreatitis
|
(Orphanet:103918)
|
Tuberous sclerosis
|
(Orphanet:805)
|
Tubular aggregate myopathy
|
(Orphanet:2593)
|
Tufted angioma
|
(Orphanet:1063)
|
UNDRITZ ANOMALY
|
(OMIM:191500)
|
URATE-BINDING GLOBULIN, DECREASE IN
|
(OMIM:191530)
|
URETER, BIFID OR DOUBLE
|
(OMIM:191550)
|
URETER, CANCER OF
|
(OMIM:191600)
|
URETEROCELE
|
(OMIM:191650)
|
URINARY BLADDER, ATONY OF
|
(OMIM:191800)
|
UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT
|
(OMIM:191700)
|
URTICARIA, AQUAGENIC
|
(OMIM:191850)
|
URTICARIA, FAMILIAL LOCALIZED HEAT
|
(OMIM:191950)
|
UTERINE ANOMALIES
|
(OMIM:192000)
|
UVULA, BIFID
|
(OMIM:192100)
|
Ulna metaphyseal dysplasia syndrome
|
(Orphanet:1837)
|
Ulnar-mammary syndrome
|
(Orphanet:3138)
|
Ulnar/fibula ray defect - brachydactyly
|
(Orphanet:52056)
|
Uncombable hair syndrome
|
(Orphanet:1410)
|
Upington disease
|
(Orphanet:3408)
|
Upper limb mesomelic dysplasia
|
(Orphanet:2497)
|
Uveal coloboma - cleft lip and palate - intellectual deficit
|
(Orphanet:1473)
|
Uveal melanoma
|
(Orphanet:39044)
|
V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG
|
(OMIM:189990)
|
VACUOLAR NEUROMYOPATHY
|
(OMIM:601846)
|
VAN BUCHEM DISEASE, TYPE 2
|
(OMIM:607636)
|
VAN DER WOUDE SYNDROME 2
|
(OMIM:606713)
|
VASCULITIS, LYMPHOCYTIC, NODULAR
|
(OMIM:192310)
|
VELOCARDIOFACIAL SYNDROME
|
(OMIM:192430)
|
VENTRICULAR SEPTAL DEFECT 2
|
(OMIM:614431)
|
VENTRICULAR SEPTAL DEFECT 3
|
(OMIM:614432)
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
|
(OMIM:614916)
|
VENTRICULAR TACHYCARDIA, FAMILIAL
|
(OMIM:192605)
|
VERHEIJ SYNDROME
|
(OMIM:615583)
|
VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS
|
(OMIM:192900)
|
VERTIGO, BENIGN RECURRENT
|
(OMIM:193007)
|
VESICOURETERAL REFLUX 2
|
(OMIM:610878)
|
VESICOURETERAL REFLUX 3
|
(OMIM:613674)
|
VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE
|
(OMIM:193005)
|
VIBRATORY ANGIOEDEMA
|
(OMIM:193050)
|
VULVOVAGINITIS, ALLERGIC SEMINAL
|
(OMIM:193450)
|
Van der Woude syndrome
|
(Orphanet:888)
|
Velo-facial-skeletal syndrome
|
(Orphanet:3424)
|
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
|
(Orphanet:3201)
|
Ventricular septal defect
|
(Orphanet:1480)
|
Von Hippel-Lindau disease
|
(Orphanet:892)
|
Von Willebrand disease type 1
|
(Orphanet:166078)
|
Von Willebrand disease type 2
|
(Orphanet:166081)
|
Von Willebrand disease, platelet type
|
(Orphanet:52530)
|
WAARDENBURG SYNDROME, TYPE 2E
|
(OMIM:611584)
|
WAARDENBURG SYNDROME, TYPE 4B
|
(OMIM:613265)
|
WAARDENBURG SYNDROME, TYPE 4C
|
(OMIM:613266)
|
WAGR syndrome
|
(Orphanet:893)
|
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
|
(OMIM:602418)
|
WIDOW'S PEAK
|
(OMIM:194000)
|
WILMS TUMOR 2
|
(OMIM:194071)
|
WILMS TUMOR 3
|
(OMIM:194090)
|
WILMS TUMOR 4
|
(OMIM:601363)
|
WILMS TUMOR 5
|
(OMIM:601583)
|
WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
|
(OMIM:600903)
|
WORONETS TRAIT
|
(OMIM:194320)
|
WT limb-blood syndrome
|
(Orphanet:3466)
|
Waardenburg syndrome type 1
|
(Orphanet:894)
|
Waardenburg syndrome type 2
|
(Orphanet:895)
|
Waardenburg-Shah syndrome
|
(Orphanet:897)
|
Wagner disease
|
(Orphanet:898)
|
Waldenström macroglobulinemia
|
(Orphanet:33226)
|
Watson syndrome
|
(Orphanet:3444)
|
Weaver syndrome
|
(Orphanet:3447)
|
Weismann-Netter syndrome
|
(Orphanet:3344)
|
Weissenbacher- Zweymuller syndrome
|
(Orphanet:3450)
|
White sponge nevus
|
(Orphanet:171723)
|
Williams syndrome
|
(Orphanet:904)
|
Wolf-Hirschhorn syndrome
|
(Orphanet:280)
|
Woolly hair
|
(Orphanet:170)
|
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
|
(Orphanet:65282)
|
Worster-Drought syndrome
|
(Orphanet:3465)
|
X-linked diffuse leiomyomatosis - Alport syndrome
|
(Orphanet:1018)
|
Yellow nail syndrome
|
(Orphanet:662)
|
ZASP-related myofibrillar myopathy
|
(Orphanet:98912)
|
ZINC FINGER PROTEIN 35
|
(OMIM:194533)
|
Zimmermann-Laband syndrome
|
(Orphanet:3473)
|
[DEL] CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
|
(OMIM:616117)
|
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME
|
(OMIM:601321)
|
[DEL] Uric acid concentration, serum, quantitative trait locus 4
|
(OMIM:612671)
|