Autosomal dominant inheritance

Symptom Information:

Symptom ID: HPO:0000006
Synonyms:
Autosomal dominant [HPO:0000006]
AUTOSOMAL DOMINANT FORM [HPO:0000006]
AUTOSOMAL DOMINANT TYPE [HPO:0000006]
Autosomal dominant inheritance [Orphanet:52060]
Quality:
Cross references:
Orphanet:52060 "Autosomal dominant inheritance" [Orphanet:52060]
Is a (Direct Parents):
HPO         Mode of inheritance
Orphanet Cytogenetic abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Mode of inheritance(HPO:0000005)
       Autosomal dominant inheritance(HPO:0000006)
MedDRA:
Database Frequency: 2518 / 7739
Resource:

All diseases associated with this symptom:

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)