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「Syndrome」 の付く(で終わる)英語の病名一覧  1882種類 

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      syndromeの付く、英語の病名       ②-4882
AAA syndrome
Aagenaes syndrome
Aarskog-like syndrome
Aarskog-Scott syndrome
Aarskog syndrome
Aase-Smith II syndrome
Aase-Smith I syndrome
Aase-Smith syndrome
Aase syndrome
Abdominal muscle deficiency syndrome
Aberfeld syndrome
Ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absence deformity of leg-cataract syndrome
Absence of dermatoglyphics-congenital milia syndrome
Absence of fingerprints-congenital milia syndrome
Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
Absent eyebrows and eyelashes-intellectual disability syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
Absent pulmonary valve syndrome
Absent radius-anogenital anomalies syndrome
Absent thumb-short stature-immunodeficiency syndrome
Absent tibia-polydactyly-arachnoid cyst syndrome
Absent tibia-polydactyly syndrome
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
ACC-abnormal genitalia syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
ACD-intellectual disability syndrome
Acephalic spermatozoa syndrome
Achalasia-addisonianism-alacrima syndrome
Achalasia-microcephaly syndrome
Achondroplasia-SCID syndrome
Achondroplasia-severe combined immunodeficiency syndrome
Achondroplasia-Swiss type agammaglobulinemia syndrome
Ackerman dermatitis syndrome
Ackerman fused molar roots syndrome
Ackerman syndrome
Acquired Fanconi syndrome secondary to monoclonal gammopathy
Acquired Gronblad-Strandberg-Touraine syndrome
Acquired kinky hair syndrome
Acquired monoclonal Ig light chain-associated Fanconi syndrome
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
Acquired von Willebrand syndrome
Acral peeling skin syndrome
Acrocallosal syndrome
Acrocardiofacial syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome
Acrofrontofacionasal syndrome type 2
Acroosteolysis-keloid-like lesions-premature aging syndrome
Acrootoocular syndrome
Acropectoral syndrome
Acrorenal defect-ectodermal dysplasia-diabetes syndrome
Acro-renal-mandibular syndrome
Acro-renal-ocular syndrome
Acrorenal syndrome
ACRP syndrome
ACTH-dependent Cushing syndrome
ACTH-independent Cushing syndrome
ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
Action myoclonus-renal failure syndrome
Activated PI3K-delta syndrome
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Acute megakaryoblastic leukemia in Down syndrome
Acute megakaryoblastic leukemia without Down syndrome
Acute motor-sensory axonal Guillain-Barré syndrome
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Acute panautonomic Guillain-Barré syndrome
Acute pure motor Guillain-Barré syndrome
Acute pure sensory Guillain-Barré syndrome
Acute radiation syndrome
Acute sensory ataxic Guillain-Barré syndrome
Adair-Dighton syndrome
Adams-Oliver syndrome
ADCA-DN syndrome
Adducted thumb-clubfoot syndrome
Adducted thumbs-arthrogryposis syndrome, Christian type
Adie syndrome
ADNP syndrome
Adolescent-onset epilepsy syndrome
Adrenal Cushing syndrome
Adrenal Cushing syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Adrenocorticotropic hormone-dependent Cushing syndrome
Adrenocorticotropic hormone-independent Cushing syndrome
Adrenocorticotropic hormone secretion syndrome
Adrenogenital syndrome
Adult acute respiratory distress syndrome
Adult familial nephronophthisis-spastic quadriparesia syndrome
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
ADULT syndrome
AEBP1-related Ehlers-Danlos syndrome
AEC syndrome
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Aglossia-adactylia syndrome
Agnathia-holoprosencephaly-situs inversus syndrome
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Ahn-Lerman-Sagie syndrome
AHO-PHP syndrome Ia
AHO-PPHP syndrome
Aicardi-Goutières syndrome
Aicardi syndrome
AIDS wasting syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Alagille syndrome
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Alagille syndrome due to del(20)(p12)
Alagille syndrome due to monosomy 20p12
Alagille-Watson syndrome
Alagille-Watson syndrome due to a JAG1 point mutation
Alagille-Watson syndrome due to a NOTCH2 point mutation
Alagille-Watson syndrome due to monosomy 20p12
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Al Awadi-Farag-Teebi syndrome
Al Awadi-Raas-Rothschild syndrome
Alazami syndrome
Albinism-deafness syndrome
Albinism-hearing loss syndrome
Albright hereditary osteodystrophy-like syndrome
Albright hereditary osteodystrophy-PHP syndrome Ia
Albright hereditary osteodystrophy-PPHP syndrome
Alcock syndrome
ALDD syndrome
ALDH18A1-related De Barsy syndrome
Aldred syndrome
Alfi syndrome
Al Gazali-Al Talabani syndrome
Al Gazali-Aziz-Salem syndrome
Al Gazali-Donnai-Muller syndrome
Al Gazali-Lytle syndrome
Al Gazali-Nair syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Allgrove syndrome
Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
Alopecia-anosmia-deafness-hypogonadism syndrome
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-deafness-hypogonadism syndrome
Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Alopecia-hearing loss-hypogonadism syndrome
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Alopecia-intellectual disability syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
Alopecia-sensorineural deafness-hypogonadism syndrome
Alopecia-sensorineural hearing loss-hypogonadism syndrome
Alpers-Huttenlocher syndrome
Alpers syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Alpha-thalassemia-myelodysplastic syndrome
Alpha-thalassemia-X-linked intellectual disability syndrome
Alport syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Alström syndrome
Amaurosis-hypertrichosis syndrome
Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome
Ambras syndrome
AMeD syndrome
Amelocerebrohypohidrotic syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome
Ameloonychohypohidrotic syndrome
Amelo-onycho-hypohidrotic syndrome
Aminopterin embryopathy syndrome
Aminopterin syndrome-like sine aminopterin
AML and myelodysplastic syndromes related to alkylating agent
AML and myelodysplastic syndromes related to radiation
AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
AMME syndrome
Amniotic band syndrome
Ampola syndrome
Andermann syndrome
Andersen syndrome
Andersen-Tawil syndrome
Androgen insensitivity syndrome
Androgen resistance syndrome
ANE syndrome
Aneurysm-osteoarthritis syndrome
Angelman syndrome
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Angioosteohypertrophic syndrome
Angioosteohypotrophic syndrome
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Aniridia-absent patella syndrome
Aniridia-cerebellar ataxia-intellectual disability syndrome
Aniridia-intellectual disability syndrome
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Aniridia-renal agenesis-psychomotor retardation syndrome
ANK3-related intellectual disability-sleep disturbance syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Anonychia-microcephaly syndrome
Anonychia-onychodystrophy syndrome
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anophthalmia-microphthalmia syndrome
Anophthalmia plus syndrome
Anophthalmia-pulmonary hypoplasia syndrome
Anophthalmia-syndactyly syndrome
ANOTHER syndrome
Antecubital pterygium syndrome
Anterior cutaneous nerve entrapment syndrome
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Anti-GBM syndrome
Anti-IgLON5 syndrome
Anti-Jo1 syndrome
Antinolo-Nieto-Borrego syndrome
Antiphospholipid antibody syndrome
Antiphospholipid syndrome
Antisynthetase syndrome
Antley-Bixler syndrome
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
AP4 deficiency syndrome
APECED syndrome
Apert syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Aphalangy-syndactyly-microcephaly syndrome
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
Apical ballooning syndrome
Aplasia cutis congenita-epibulbar dermoids syndrome
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Aplasia cutis congenita-nevus sebaceus syndrome
Aplasia cutis-myopia syndrome
Aplastic anemia-intellectual disability-dwarfism syndrome
Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome
Apple peel syndrome
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome
Arboleda-Tham syndrome
ARC syndrome
AREDYLD syndrome
Arima syndrome
Arkless-Graham syndrome
Armfield syndrome
Aromatase excess syndrome
Arrhinia-choanal atresia-microphthalmia syndrome
Arterial cervical rib syndrome
Arterial costoclavicular syndrome
Arterial dissection-lentiginosis syndrome
Arterial hyperabduction syndrome
Arterial scalenus anticus syndrome
Arterial thoracic outlet compression syndrome
Arterial thoracic outlet syndrome
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis-anterior horn cell disease syndrome
Arthrogryposis-ectodermal dysplasia syndrome
Arthrogryposis-hyperkeratosis syndrome, lethal form
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome
Arthrogryposis-like syndrome
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
Arthrogryposis multiplex congenita-whistling face syndrome
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome
Arthrogryposis-severe scoliosis syndrome
Arthrogryposis syndrome
Arthropathy-camptodactyly syndrome
Arts syndrome
Ascher syndrome
Aseptic abscesses syndrome
Asherman syndrome
AS syndrome
Ataxia-deafness-intellectual disability syndrome
Ataxia-delayed dentition-hypomyelination syndrome
Ataxia-diabetes-goiter-gonadal insufficiency syndrome
Ataxia-hearing loss-intellectual disability syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Ataxia-pancytopenia syndrome
Ataxia-photosensitivity-short stature syndrome
Ataxia-tapetoretinal degeneration syndrome
Ataxo-opso-myoclonus syndrome
Athabascan brainstem dysgenesis syndrome
Athabaskan brainstem dysgenesis syndrome
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Atkin-Flaitz syndrome
ATR-16 syndrome
Atrial septal defect-atrioventricular conduction defects syndrome
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
ATR syndrome, deletion type
ATR syndrome linked to chromosome 16
ATRUS syndrome
ATR-X syndrome
Attenuated Chédiak-Higashi syndrome
Atypical Chédiak-Higashi syndrome
Atypical Demons-Meigs syndrome
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Atypical hemolytic uremic syndrome
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Atypical hemolytic uremic syndrome with complement gene abnormality
Atypical hypotonia-cystinuria syndrome
Atypical Meigs syndrome
Atypical MRKH syndrome
Atypical progeroid syndrome
Atypical progressive supranuclear palsy syndrome
Atypical PSP syndrome
Atypical Rett syndrome
Atypical Timothy syndrome
Atypical Werner syndrome
Auditory neuropathy-optic atrophy syndrome
Aughton-Hufnagle syndrome
Au-Kline syndrome
Aural atresia-multiple congenital anomalies-intellectual disability syndrome
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Auriculocondylar syndrome
Ausems-Wittebol Post-Hennekam syndrome
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autoerythrocyte sensitization syndrome
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune interstitial lung disease-arthritis syndrome
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome with recurrent viral infections
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndrome type 2
Autoimmune polyendocrine syndrome type 3
Autoimmune polyendocrine syndrome type 4
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 2
Autoimmune polyglandular syndrome type 3
Autoimmune polyglandular syndrome type 4
Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
Autoinflammation-lipodystrophy-dermatosis syndrome
Autoinflammatory syndrome
Autoinflammatory syndrome of childhood
Autoinflammatory syndrome with immune deficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autoinflammatory syndrome with skin involvement
Autosomal dominant Alport syndrome
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant hearing loss-onychodystrophy syndrome
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hyperimmunoglobulin E syndrome
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant multiple pterygium syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant popliteal pterygium syndrome
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Autosomal dominant Robinow syndrome
Autosomal dominant Segawa syndrome
Autosomal ichthyosis syndrome
Autosomal ichthyosis syndrome with fatal disease course
Autosomal ichthyosis syndrome with other associated signs
Autosomal ichthyosis syndrome with prominent hair abnormalities
Autosomal ichthyosis syndrome with prominent neurologic signs
Autosomal recessive Alport syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive distal osteolysis syndrome
Autosomal recessive faciodigitogenital syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
Autosomal recessive hyper-IgE syndrome
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive lethal multiple pterygium syndrome
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
Autosomal recessive optic atrophy plus syndrome
Autosomal recessive popliteal pterygium syndrome
Autosomal recessive Robinow syndrome
Autosomal recessive Segawa syndrome
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic paraplegia-disc herniation syndrome
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
Autosomal recessive Stickler syndrome
AUTS2 syndrome
Axenfeld-Rieger syndrome
Axenfeld syndrome
Axonal neuropathy-optic atrophy-cognitive deficit syndrome
Ayazi syndrome
Aymé-Gripp syndrome
Azoospermia-sinopulmonary infections syndrome
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Bachmann-Bupp syndrome
Bacterial toxic-shock syndrome
Bahemuka-Brown syndrome
Bainbridge-Ropers syndrome
Baird syndrome
Bakrania-Ragge syndrome
Balikova-Vermeesch syndrome
Balint-Holmes syndrome
Balint syndrome
Baller-Gerold syndrome
Bamboo hair syndrome
Bamforth-Lazarus syndrome
Bamforth syndrome
Bangstad syndrome
Banki syndrome
Bannayan-Riley-Ruvalcaba syndrome
BAP1-related tumor predisposition syndrome
Baraitser-Brett-Piesowicz syndrome
Baraitser-Burn syndrome
Baraitser-Reardon syndrome
Baraitser-Winter cerebrofrontofacial syndrome
Barakat syndrome
Baralle-Macken syndrome
Barber-Say syndrome
Bardet-Biedl syndrome
Bare lymphocyte syndrome type 1
Bare lymphocyte syndrome type 2
Barnes syndrome
Barraquer-Simons syndrome
Barth syndrome
Bart-Pumphrey syndrome
Bartsocas-Papas syndrome
Bartter syndrome
Bartter syndrome type 1
Bartter syndrome type 2
Bartter syndrome type 3
Bartter syndrome type 4
Bartter syndrome type 5
Bartter syndrome type I
Bartter syndrome type II
Bartter syndrome type III
Bartter syndrome type IV
Bartter syndrome type V
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
Basal cell nevus syndrome
Basan-Baird syndrome
Basel-Vanagaite-Sirota syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
BASM syndrome
Bassoe syndrome
Battaglia-Neri syndrome
Baughman syndrome
Bazex-Dupré-Christol syndrome
Bazex syndrome
BCD syndrome
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
BDV syndrome
Beals-Hecht syndrome
Beals syndrome
Bean syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes syndrome
Becker nevus syndrome
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to NSD1 mutation
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Bedouin spastic ataxia syndrome
Beemer-Ertbruggen syndrome
Bellini syndrome
Benallegue-Lacete syndrome
Bencze syndrome
Bennion-Patterson syndrome
Benson syndrome
Berant syndrome
Berardinelli-Seip syndrome
Berdon syndrome
Berlin breakage syndrome
Berlin syndrome
Bernard-Soulier syndrome
Beta-thalassemia-X-linked thrombocytopenia syndrome
Bickers-Adams syndrome
Biemond syndrome
Biemond syndrome type 2
Bifid femur-monodactylous ectrodactyly syndrome
Bilateral anterior opercular syndrome
Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
Bilateral microtia-deafness-cleft palate syndrome
Bilateral microtia-hearing loss-cleft palate syndrome
Bilginturan syndrome
Biliary atresia with splenic malformation syndrome
Billard-Toutain-Maheut syndrome
BILU syndrome
Binder syndrome
Bindewald-Ulmer-Müller syndrome
Birt-Hogg-Dubé syndrome
Bixler-Christian-Gorlin syndrome
Björnstad syndrome
B-K mole syndrome
Bladder pain syndrome
Blakemore-Durmaz-Vasileiou syndrome
Blau syndrome
Blepharochalasis-double lip syndrome
Blepharocheilodontic syndrome
Blepharo-cheilo-odontic syndrome
Blepharonasofacial malformation syndrome
Blepharophimosis-intellectual disability syndrome
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, MKB type
Blepharophimosis-intellectual disability syndrome, Ohdo type
Blepharophimosis-intellectual disability syndrome, SBBYS type
Blepharophimosis-intellectual disability syndrome type V
Blepharophimosis-intellectual disability syndrome, Verloes type
Blepharophimosis-ptosis-epicanthus inversus syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure
Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Blepharophimosis syndrome, Ohdo type
Blepharophimosis-telecanthus-microstomia syndrome
Blepharoptosis-myopia-ectopia lentis syndrome
Blepharospasm-oromandibular dystonia syndrome
Blindness-scoliosis-arachnodactyly syndrome
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
Bloom syndrome
Blue diaper syndrome
BNAR syndrome
Bockenheimer syndrome
Boder syndrome
BOD syndrome
Bohring-Opitz syndrome
Bohring syndrome
Bone dysplasia-medullary fibrosarcoma syndrome
Bone fragility-contractures-arterial rupture-deafness syndrome
Bone fragility-contractures-arterial rupture-hearing loss syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
Bonneau-Beaumont syndrome
Bonneau syndrome
Bonnemann-Meinecke-Reich syndrome
Bonnemann-Meinecke syndrome
Bonnet-Dechaume-Blanc syndrome
Böök syndrome
Booth-Haworth-Dilling syndrome
Borjeson-Forssman-Lehmann syndrome
Bork syndrome
BOR syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bosley-Salih-Alorainy syndrome
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
BOS syndrome
Boucher-Neuhäuser syndrome
Bourneville syndrome
Bowen-Conradi syndrome
Bowen syndrome, Hutterite type
Boyadjiev-Jabs syndrome
Brachmann-de Lange syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Brachydactyly-arterial hypertension syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-intellectual disability syndrome
Brachydactyly-joint dysplasia syndrome
Brachydactyly-long thumb syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Brachydactyly-preaxial hallux varus syndrome
Brachydactyly-scoliosis-carpal fusion syndrome
Brachydactyly-short stature-microcephaly syndrome
Brachydactyly-short stature-retinitis pigmentosa syndrome
Brachydactyly-symphalangism syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Brachyolmia-amelogenesis imperfecta syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
Bradbury-Eggleston syndrome
Braddock-Jones-Superneau syndrome
Braddock syndrome
Brain-lung-thyroid syndrome
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
Branchial arch or oral-acral syndrome
Branchial dysplasia-intellectual disability-inguinal hernia syndrome
Branchiogenic deafness syndrome
Branchiogenic hearing loss syndrome
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootic syndrome
Branchiootorenal syndrome
Branchioskeletogenital syndrome
Brauer syndrome
Braun-Bayer syndrome
BRESEK syndrome
BRESHECK syndrome
Brittle cornea syndrome
Broad thumb-hallux syndrome
Broad thumbs-halluces syndrome
Broken heart syndrome
Bronspiegel-Zelnick syndrome
Brooke-Spiegler syndrome
Brown-Vialetto-van Laere syndrome
Bruck syndrome
Brugada syndrome
Brunner syndrome
Brunner-Winter syndrome
Brunner-Winter syndrome type 1
Brunner-Winter syndrome type 2
BSG syndrome
Buckley syndrome
Budd-Chiari syndrome
Bull-Nixon syndrome
Burning mouth syndrome
Burn-McKeown syndrome
Burton syndrome
Buschke-Fischer-Brauer syndrome
Buschke-Ollendorff syndrome
Buttiens-Fryns syndrome
C9ORF72-related Huntington disease-like syndrome
Cabezas syndrome
CABV syndrome
CACH syndrome
CACP syndrome
CAEBV syndrome
CAHMR syndrome
CAID syndrome
CALs syndrome isolated
Calvarial doughnut lesions-bone fragility syndrome
Camera syndrome
Camero-Lituania-Cohen syndrome
CAMOS syndrome
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Camptodactyly-cleft palate-clubfoot syndrome
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Camptodactyly-joint contractures-facial skeletal defects syndrome
Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome
Camptodactyly-overgrowth-unusual facies syndrome
Camptodactyly syndrome, Guadalajara type 1
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly syndrome, Guadalajara type 3
Camptodactyly-tall stature-scoliosis-deafness syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptodactyly-taurinuria syndrome
CAMRQ syndrome
Canale-Smith syndrome
CANDA syndrome
CANOMAD syndrome
Cantalamessa-Baldini-Ambrosi syndrome
Cantrell syndrome
Cantu craniofaciofrontodigital syndrome
Cantú syndrome
Capillary hyperpermeability syndrome
Capillary leak syndrome
CAPOS syndrome
Capra-DeMarco syndrome
CAP syndrome
Carbohydrate deficient glycoprotein syndrome
Carbohydrate deficient glycoprotein syndrome type Ia
Carbohydrate deficient glycoprotein syndrome type Ib
Carbohydrate deficient glycoprotein syndrome type Ic
Carbohydrate deficient glycoprotein syndrome type Id
Carbohydrate deficient glycoprotein syndrome type Ie
Carbohydrate deficient glycoprotein syndrome type If
Carbohydrate deficient glycoprotein syndrome type Ig
Carbohydrate deficient glycoprotein syndrome type Ih
Carbohydrate deficient glycoprotein syndrome type Ii
Carbohydrate deficient glycoprotein syndrome type IIa
Carbohydrate deficient glycoprotein syndrome type IIb
Carbohydrate deficient glycoprotein syndrome type IId
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Carbohydrate deficient glycoprotein syndrome type IIe
Carbohydrate deficient glycoprotein syndrome type IIf
Carbohydrate deficient glycoprotein syndrome type IIg
Carbohydrate deficient glycoprotein syndrome type IIh
Carbohydrate deficient glycoprotein syndrome type IIi
Carbohydrate deficient glycoprotein syndrome type IIj
Carbohydrate deficient glycoprotein syndrome type IIk
Carbohydrate deficient glycoprotein syndrome type IIn
Carbohydrate deficient glycoprotein syndrome type IIo
Carbohydrate deficient glycoprotein syndrome type IIp
Carbohydrate deficient glycoprotein syndrome type Ij
Carbohydrate deficient glycoprotein syndrome type Ik
Carbohydrate deficient glycoprotein syndrome type IL
Carbohydrate deficient glycoprotein syndrome type Im
Carbohydrate deficient glycoprotein syndrome type In
Carbohydrate deficient glycoprotein syndrome type Io
Carbohydrate deficient glycoprotein syndrome type Ip
Carbohydrate deficient glycoprotein syndrome type Ir
Carbohydrate deficient glycoprotein syndrome type Iu
Carbohydrate deficient glycoprotein syndrome type Ix
Carbohydrate deficient glycoprotein syndrome type Iy
Carbohydrate deficient glycoprotein syndrome type Iz
Carcinoid syndrome
CARD11-associated atopy with dominant interference of NF-kB signaling syndrome
Cardiac anomalies-heterotaxy syndrome
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
Cardiac-valvular Ehlers-Danlos syndrome
Cardiocranial syndrome, Pfeiffer type
Cardiofaciocutaneous syndrome
Cardiogenital syndrome
Cardiomelic syndrome type 3
Cardiomyopathy-cataract-hip spine disease syndrome
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Cardioskeletal myopathy-neutropenia syndrome
Cardiospondylocarpofacial syndrome
Carey-Fineman-Ziter syndrome
Carmi syndrome
Carnevale-Hernández-del Castillo syndrome
Carney complex-trismus-pseudocamptodactyly syndrome
Carney-Stratakis syndrome
Carney syndrome
Caroli syndrome
Carpenter syndrome
CAR syndrome
CAR T cell therapy-associated cytokine release syndrome
Carvajal syndrome
Caspase 8 deficiency syndrome
Cassia Stocco dos Santos syndrome
Castro Gago-Pombo-Novo syndrome
Cataract-aberrant oral frenula-growth delay syndrome
Cataract-alopecia-sclerodactyly syndrome
Cataract-ataxia-deafness syndrome
Cataract-ataxia-hearing loss syndrome
Cataract-congenital heart disease-neural tube defect syndrome
Cataract-deafness-hypogonadism syndrome
Cataract-glaucoma syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cataract-hearing loss-hypogonadism syndrome
Cataract-hypertrichosis-intellectual disability syndrome
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cataract-microcornea syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
Cataract-nephropathy-encephalopathy syndrome
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Catastrophic antiphospholipid syndrome
Catel-Hempel syndrome
Catel-Manzke syndrome
Cat-eye syndrome
CATSHL syndrome
Caudal appendage-deafness syndrome
Caudal appendage-hearing loss syndrome
Caudal dysgenesis syndrome
Caudal regression syndrome
Cayler cardiofacial syndrome
CBL syndrome
CCA syndrome
CCGE syndrome
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
CDAGS syndrome
CDFE syndrome
CDG syndrome type Ia
CDG syndrome type Ib
CDG syndrome type Ic
CDG syndrome type Id
CDG syndrome type Ie
CDG syndrome type If
CDG syndrome type Ig
CDG syndrome type Ih
CDG syndrome type Ii
CDG syndrome type IIa
CDG syndrome type IIb
CDG syndrome type IIc
CDG syndrome type IId
CDG syndrome type IIe
CDG syndrome type IIf
CDG syndrome type IIg
CDG syndrome type IIh
CDG syndrome type IIi
CDG syndrome type IIj
CDG syndrome type IIk
CDG syndrome type IIL
CDG syndrome type IIm
CDG syndrome type IIn
CDG syndrome type IIo
CDG syndrome type IIp
CDG syndrome type Ij
CDG syndrome type Ik
CDG syndrome type IL
CDG syndrome type Im
CDG syndrome type In
CDG syndrome type Io
CDG syndrome type Ip
CDG syndrome type Iq
CDG syndrome type Ir
CDG syndrome type Is
CDG syndrome type It
CDG syndrome type Iu
CDG syndrome type Iw
CDG syndrome type Ix
CDG syndrome type Iy
CDG syndrome type Iz
CDO syndrome
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Cecato de Lima-Pinheiro syndrome
CEDNIK syndrome
Celiac artery compression syndrome
Celiac disease-epilepsy-cerebral calcification syndrome
Cenani-Lenz syndrome
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome
Cerebellar ataxia-ectodermal dysplasia syndrome
Cerebellar ataxia-hypogonadism syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
Cerebellar ataxia with bilateral vestibulopathy syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar-facial-dental syndrome
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Cerebellar plus syndrome
Cerebellar syndrome-pigmentary maculopathy syndrome
Cerebellofaciodental syndrome
Cerebellooculorenal syndrome
Cerebellotrigeminal-dermal dysplasia syndrome
Cerebral creatine deficiency syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Cerebrocostomandibular syndrome
Cerebro-cutaneous syndrome with iron overload
Cerebrofacial arteriovenous metameric syndrome
Cerebrofacial arteriovenous metameric syndrome type 1
Cerebrofacial arteriovenous metameric syndrome type 2
Cerebrofacial arteriovenous metameric syndrome type 3
Cerebrofacioarticular syndrome
Cerebrohepatorenal syndrome
Cerebrooculodentoauriculoskeletal syndrome
Cerebrooculofacioskeletal syndrome
Cerebrooculonasal syndrome
Cerebrorenal syndrome, Perez type
Cervical hypertrichosis-peripheral neuropathy syndrome
Cervicooculoacoustic syndrome
CFC syndrome
CHAC syndrome
Chandler syndrome
CHAND syndrome
Chang-Davidson-Carlson syndrome
CHAPLE syndrome
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Charcot-Marie-Tooth disease-hearing loss syndrome
Charcot-Marie-Tooth disease-nephropathy syndrome
Charcot-Marie-Tooth disease-pyramidal features syndrome
Char-Douglas-Dungan syndrome
CHARGE-like syndrome
CHARGE syndrome
Charlie M syndrome
Char syndrome
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Chédiak-Higashi-like syndrome
Chédiak-Higashi-Steinbrink syndrome
Chédiak-Higashi syndrome
Cheney syndrome
Cherry-red spot-myoclonus syndrome
Cherubism-gingival fibromatosis-intellectual disability syndrome
Childhood-onset basal ganglia degeneration syndrome
Childhood-onset epilepsy syndrome
Childhood-onset generalized dystonia-optic atrophy syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
CHILD syndrome
Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome
CHIME syndrome
Chitayat-Meunier-Hodgkinson syndrome
Chitty-Hall-Baraitser syndrome
Chloride shunt syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Cholestasis-lymphedema syndrome
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
Chondrodysplasia-disorder of sex development syndrome
CHOPS syndrome
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
Choroidal atrophy-alopecia syndrome
Christianson-Fourie syndrome
Christianson syndrome
Christian syndrome
Christ-Siemens-Touraine syndrome
Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome
Chronic atrial and intestinal dysrhythmia syndrome
Chronic EBV infection syndrome
Chronic Epstein-Barr virus infection syndrome
Chronic infantile neurological cutaneous and articular syndrome
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
Chudley-McCullough syndrome
Chudley-Rozdilsky syndrome
Chung-Jansen syndrome
Churg-Strauss syndrome
Cilliers-Beighton syndrome
CIMDAG syndrome
CINCA syndrome
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
CK syndrome
CLAPO syndrome
Clark-Baraitser syndrome
Classical Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome type 1
Classical-like Ehlers-Danlos syndrome type 2
Classic antiphospholipid syndrome
Classic glucose transporter type 1 deficiency syndrome
Classic GLUT1 deficiency syndrome
Classic Joubert syndrome
Classic Pfeiffer syndrome
Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Classic stiff person syndrome
Clayton Smith-Donnai syndrome
CLCN4-related X-linked intellectual disability syndrome
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Clefting-ectropion-conical teeth syndrome
Cleft lip-alveolus-palate syndrome
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Cleft lip-cone rod dystrophy syndrome
Cleft lip-limb and heart malformations syndrome
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
Cleft lip/palate-hearing loss-sacral lipoma syndrome
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Cleft lip/palate-syndactyly-pili torti syndrome
Cleft lip-progressive retinopathy syndrome
Cleft lip-retinopathy syndrome
Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
Cleft palate-large ears-small head syndrome
Cleft palate-lateral synechia syndrome
Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome
Cleft palate-short stature-vertebral anomalies syndrome
Cleft palate-stapes fixation-oligodontia syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Cleidorhizomelic syndrome
CLIFAHDD syndrome
C-like syndrome
Clonal hypereosinophilic syndrome
Clouston syndrome
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Cloverleaf skull-micromelic bone dysplasia syndrome
Cloverleaf skull-multiple congenital anomalies syndrome
CLOVES syndrome
CMMR-D syndrome
CMT-deafness-intellectual disability syndrome
COACH syndrome
Coats plus syndrome
Cobb syndrome
Cochleosaccular degeneration-cataract syndrome
Cockayne syndrome
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Cockayne syndrome type I
Cockayne syndrome type II
Cockayne syndrome type III
CODAS syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
COFS syndrome
Cogan-Reese syndrome
Cogan syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Cohen syndrome
COIF syndrome
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
Cold agglutinin syndrome
Cold-induced sweating syndrome
Cold-induced sweating syndrome-hyperthermia spectrum
Cole-Carpenter syndrome
Collins-Pope syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Coloboma of macula-brachydactyly type B syndrome
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Colobomatous macrophthalmia-microcornea syndrome
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome
Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
Combined hyperactive dysfunction syndrome of the cranial nerves
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
Combined pulmonary fibrosis-emphysema syndrome
Comèl-Netherton syndrome
COMMAD syndrome
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Complete androgen insensitivity syndrome
Complete androgen resistance syndrome
Complex regional pain syndrome
Complex regional pain syndrome type 1
Complex regional pain syndrome type 2
Conductive deafness-malformed external ear syndrome
Conductive deafness-ptosis-skeletal anomalies syndrome
Conductive hearing loss-malformed external ear syndrome
Conductive hearing loss-ptosis-skeletal anomalies syndrome
Cone rod dystrophy-amelogenesis imperfecta syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy
  -facial dysmorphism syndrome
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Congenital cataract-deafness-severe developmental delay syndrome
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Congenital central alveolar hypoventilation syndrome
Congenital central hypoventilation syndrome
Congenital Claude-Bernard-Horner syndrome
Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital heart defect-round face-developmental delay syndrome
Congenital hereditary facial paralysis-variable deafness syndrome
Congenital hereditary facial paralysis-variable hearing loss syndrome
Congenital Horner syndrome
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
Congenital ichthyosis-microcephalus-quadriplegia syndrome
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Congenital intrauterine infection-like syndrome
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
Congenital long QT syndrome
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital myasthenic syndrome
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
Congenital nephrosis-cerebral ventriculomegaly syndrome
Congenital nephrotic syndrome, Finnish type
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital or early infantile CACH syndrome
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Congenital pulmonary venolobar syndrome
Congenital rubella syndrome
Congenital short bowel syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital stiff man syndrome
Congenital varicella syndrome
Congenital vascular bone syndrome
Congenital vertebral-cardiac-renal anomalies syndrome
Congenital Volkmann ischemic contracture syndrome
Conorenal syndrome
Conotruncal anomaly face syndrome
Conradi-Hünermann-Happle syndrome
Constitutional mismatch repair deficiency syndrome
Constriction band syndrome
Constriction rings syndrome
Contiguous ABCD1 DXS1357E deletion syndrome
Continuous muscle fiber activity syndrome
Contractures-developmental delay-Pierre Robin syndrome
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Cooks syndrome
Cooper-Jabs syndrome
COPA syndrome
Copenhagen syndrome
Corneal anesthesia-deafness-intellectual disability syndrome
Corneal anesthesia-hearing loss-intellectual disability syndrome
Corneal dystrophy epithelial-short stature syndrome
Corneal dystrophy-perceptive deafness syndrome
Corneal dystrophy-perceptive hearing loss syndrome
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Cornelia de Lange syndrome
Corneodermatoosseous syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Corpus callosum agenesis-neuronopathy syndrome
Corpus callosum agenesis-polysyndactyly syndrome
Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
Cortical blindness-intellectual disability-polydactyly syndrome
Cortical dysplasia-focal epilepsy syndrome
Cortical hyperostosis-syndactyly syndrome
Corticobasal syndrome
Corticosteroid-sensitive aseptic abscess syndrome
Corticotropin-dependent Cushing syndrome
Corticotropin-independent Cushing syndrome
Cosack syndrome
Costeff optic atrophy syndrome
Costeff syndrome
Costello syndrome
Costovertebral segmentation defect-mesomelia syndrome
Cousin syndrome
COVESDEM syndrome
Cowchock syndrome
Cowden syndrome
Coxoauricular syndrome
Coxopodopatellar syndrome
CPE-related Prader-Willi-like syndrome
CPLS syndrome
Cramp-fasciculation syndrome
Crandall syndrome
Crane-Heise syndrome
Cranial variant of Guillain-Barré syndrome
Craniodigital-intellectual disability syndrome
Craniofacial-deafness-hand syndrome
Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Craniofacial-hearing loss-hand syndrome
Craniofacial-ulnar-renal syndrome
Cranio-facio-digito-genital syndrome
Craniofaciofrontodigital syndrome
Craniofrontonasal dysplasia-Poland anomaly syndrome
Craniofrontonasal syndrome
Craniomicromelic syndrome
Craniosynostosis-alopecia-brain defect syndrome
Craniosynostosis-anal anomalies-porokeratosis syndrome
Craniosynostosis-congenital heart disease-intellectual disability syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Craniosynostosis-intracranial calcifications syndrome
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
CRASH syndrome
Creatine deficiency syndrome
Cri du chat syndrome
Crigler-Najjar syndrome
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome type 2
Crisponi syndrome
Criswick-Schepens syndrome
Crome syndrome
Cronkhite-Canada syndrome
Cross syndrome
Crouzon-dermoskeletal syndrome
Crouzon syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Crow-Fukase syndrome
Cryopyrin-associated periodic syndrome
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Cryptomicrotia-brachydactyly syndrome
Cryptophthalmos-syndactyly syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome
CSWSS syndrome
C syndrome
CTNNB1 syndrome
Culler-Jones syndrome
Curatolo-Cilio-Pessagno syndrome
Curly hair-acral keratoderma-caries syndrome
Curly hair-ankyloblepharon-nail dysplasia syndrome
Currarino syndrome
Curry-Hall syndrome
Curry-Jones syndrome
Cushing syndrome
Cushing syndrome due to bilateral macronodular adrenocortical disease
Cushing syndrome due to BMACD
Cushing syndrome due to ectopic ACTH secretion
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
Cutaneous photosensitivity-lethal colitis syndrome
Cutaneovisceral angiomatosis-thrombocytopenia syndrome
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cutis laxa-corneal clouding-intellectual disability syndrome
Cutis laxa-Marfanoid syndrome
Cutler-Bass-Romshe syndrome
CYLD cutaneous syndrome
Cyprus facial-neuromusculoskeletal syndrome
Cystathionine gamma-lyase deficiency syndrome
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Cystinuria-lysinuria syndrome
Czeizel-Brooser syndrome
Czeizel-Losonci syndrome
Czeizel syndrome
Dacryocystitis-osteopoikilosis syndrome
Daentl-Townsend-Siegel syndrome
Dahlberg-Borer-Newcomer syndrome
Dahlberg syndrome
Daish-Hardman-Lamont syndrome
Dancing eye-dancing feet syndrome
Dancing eye syndrome
Dandy-Walker malformation-postaxial polydactyly syndrome
Daneman-Davy-Mancer syndrome
Da Silva syndrome
DAVID syndrome
DBS/FOAR syndrome
DCMA syndrome
DDOD syndrome
DDON syndrome
DDX41-related hematologic malignancy predisposition syndrome
Deaf blind hypopigmentation syndrome, Yemenite type
Deafness-cataract-skeletal anomalies syndrome
Deafness-craniofacial syndrome
Deafness-dystonia-optic neuronopathy syndrome
Deafness-ear malformation-facial palsy syndrome
Deafness-enamel hypoplasia-nail defects syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Deafness-Hermann type symphalangism syndrome
Deafness-hypogonadism syndrome
Deafness-infertility syndrome
Deafness-intellectual disability syndrome, Martin-Probst type
Deafness-lymphedema-leukemia syndrome
Deafness-nephritis-ano-rectal malformation syndrome
Deafness-oligodontia syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Deafness-pili torti-hypogonadism syndrome
Deafness-skeletal dysplasia-coarse face with full lips syndrome
Deafness-skeletal dysplasia-lip granuloma syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome
Deafness-vitiligo-achalasia syndrome
De Barsy syndrome
De Die-Smulders-Vles-Fryns syndrome
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Degner syndrome
De Grouchy syndrome
Dejerine-Sottas syndrome
Dekaban-Arima syndrome
De la Chapelle syndrome
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Delleman-Oorthuys syndrome
Delleman syndrome
Demons-Meigs syndrome
De Morsier syndrome
DEND syndrome
Dennis-Fairhurst-Moore syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
Dentin dysplasia-sclerotic bones syndrome
Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Dent syndrome
Denys-Drash syndrome
Der(22)t(11;22) syndrome
Der Kaloustian-Jarudi-Khoury syndrome
Der Kaloustian-McIntosh-Silver syndrome
Dermatosparaxis Ehlers-Danlos syndrome
Dermotrichic syndrome
Desbuquois syndrome
DESC syndrome
De Smet-Fabry-Fryns syndrome
DES syndrome
DeToni-Debré-Fanconi syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Developmental delay-hypotonia-extremities hypertrophy syndrome
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
Devriendt-Vandenberghe-Fryns syndrome
Diabetes-hypogonadism-deafness-intellectual disability syndrome
Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
DIAPH1-related sensorineural deafness-thrombocytopenia syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome
Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
Diaphragmatic hernia-short bowel-asplenia syndrome
Diaphyseal dysplasia-anemia syndrome
Diaphyseal medullary stenosis-bone malignancy syndrome
Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Dias-Logan syndrome
DICER1 tumor-predisposition syndrome
DIDMOAD syndrome
Diencephalic syndrome
Diencephalic syndrome of childhood
Diencephalic syndrome of emaciation
Diethylstilbestrol syndrome
Diets-Jongmans Syndrome
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
DiGeorge syndrome
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dinno syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
di Sala syndrome
Disembarkment syndrome
Dislocation of the hip-dysmorphism syndrome
Disorder of sex development-intellectual disability syndrome
Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome
Distal 15q deletion syndrome
Distal 16p11.2 microdeletion syndrome
Distal 17p13.1 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal 22q11.2 microduplication syndrome
Distal 7q11.23 microdeletion syndrome
Distal 7q11.23 microduplication syndrome
Distal limb deficiencies-micrognathia syndrome
Distal osteolysis-short stature-intellectual disability syndrome
Distal Xq28 microduplication syndrome
DK phocomelia syndrome
DNA2-related mitochondrial DNA deletion syndrome
DNMT3A-related overgrowth syndrome
Dobrin syndrome
Dobrow syndrome
DOCK8 immunodeficiency syndrome
Donath-Landsteiner syndrome
Donnai-Barrow syndrome
Donohue syndrome
DOORS syndrome
DOOR syndrome
Doose syndrome
Double A syndrome
Double uterus and obstructed hemivagina syndrome
Double uterus-hemivagina-renal agenesis syndrome
Double Y syndrome
Down syndrome
DPG-plus syndrome
Drash syndrome
Dravet syndrome
DRESS syndrome
Drummond syndrome
Duane anomaly-myopathy-scoliosis syndrome
Duane-radial ray syndrome
Duane-radial ray syndrome due to a point mutation
Duane-radial ray syndrome due to monosomy 20q13
Duane retraction syndrome
Duane retraction syndrome with congenital deafness
Duane retraction syndrome with congenital hearing loss
Duane syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Dunbar syndrome
Dündar syndrome
Dunnigan syndrome
Dup(3q) syndrome
Du Pan syndrome
Duplication of the pituitary gland-plus syndrome
Dutch-Kentucky syndrome
Dykes-Marks-Harper syndrome
DYRK1A-related intellectual disability syndrome
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A-related intellectual disability syndrome due to a point mutation
DYRK1A syndrome
Dyschondrosteosis-nephritis syndrome
Dysequilibrium syndrome
Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
Dysmorphism-cleft palate-loose skin syndrome
Dysmorphism-conductive hearing loss-heart defect syndrome
Dysmorphism-multiple structural anomalies syndrome
Dysmorphism-pectus carinatum-joint laxity syndrome
Dysmorphism-short stature-deafness-disorder of sex development syndrome
Dysmorphism-short stature-hearing loss-disorder of sex development syndrome
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Dystonia-aphonia syndrome
Dystonia-parkinsonism-hypermanganesemia syndrome
Dystonia-plus syndrome
Eagle-Barret syndrome
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Early-onset parkinsonism-intellectual disability syndrome
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Ear-patella-short stature syndrome
Eastman-Bixler syndrome
EAST syndrome
ECO syndrome
Ectodermal dysplasia-acanthosis nigricans syndrome
Ectodermal dysplasia-blindness syndrome
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
Ectodermal dysplasia-sensorineural deafness syndrome
Ectodermal dysplasia-sensorineural hearing loss syndrome
Ectodermal dysplasia-short stature syndrome
Ectodermal dysplasia-skin fragility syndrome
Ectodermal dysplasia syndrome
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Ectopia lentis syndrome
Ectopic Cushing syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders
Ectrodactyly-polydactyly syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
EDICT syndrome
Edinburgh malformation syndrome
EDS/myopathy overlap syndrome
EDS/OI syndrome
Edwards-Patton-Dilly syndrome
Edwards syndrome
EEC syndrome
EEC syndrome and related disorders
EEC syndrome and related syndrome
EEM syndrome
Ehlers-Danlos/osteogenesis imperfecta syndrome
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome hypermobility type
Ehlers-Danlos syndrome, Kosho type
Ehlers-Danlos syndrome, periodontitis type
Ehlers-Danlos syndrome progeroid type 2
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome type 6A
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome type 7C
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
Ehrmann-Sneddon syndrome
Eiken syndrome
Eisenmenger syndrome
EKC syndrome
Elejalde syndrome
Ellis Van Creveld syndrome
Ellis-Yale-Winter syndrome
Elsahy-Waters syndrome
Elschnig syndrome
Emanuel syndrome
Emberger syndrome
Embryonic testicular regression syndrome
Emery-Nelson syndrome
EN1-related dorsoventral syndrome
Enamel-renal syndrome
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Encephalopathy-intracerebral calcification-retinal degeneration syndrome
Endocrine-cerebro-osteodysplasia syndrome
Endosteal sclerosis-cerebellar hypoplasia syndrome
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
ENDOVE syndrome
Eng-Strom syndrome
Enhanced S-cone syndrome
Epibronchial right pulmonary vein syndrome
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Epidermal hamartoma syndrome
Epidermal nevus syndrome
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-dementia-amelogenesis imperfecta syndrome
Epilepsy-microcephaly-skeletal dysplasia syndrome
Epilepsy syndrome
Epilepsy-telangiectasia syndrome
Epiphyseal dysplasia-deafness-dysmorphism syndrome
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Epiphyseal dysplasia-microcephaly-nystagmus syndrome
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome
Episodic ataxia-vertigo-tinnitus-myokymia syndrome
Erythrokeratodermia-cardiomyopathy syndrome
Escher-Hirt syndrome
Escobar syndrome
Escobar variant multiple pterygium syndrome
Estrogen resistance syndrome
Evans syndrome
Evans syndrome associated with primary immunodeficiency
EVEN-plus syndrome
Exomphalos-macroglossia-gigantism syndrome
Exostoses-anetodermia-brachydactyly type E syndrome
External auditory canal atresia-vertical talus-hypertelorism syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Extrinsic biliary compression syndrome
Eyebrow duplication-syndactyly syndrome
Eye defects-arachnodactyly-cardiopathy syndrome
F12-associated cold autoinflammatory syndrome
FACES syndrome
Facial diplegia with paresthesias variant of Guillain-Barré syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome
    due to 10p11.21p12.31 microdeletion
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental
  delay-gingival overgrowth syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Faciocardiorenal syndrome
Faciocutaneoskeletal syndrome
Faciodigitogenital syndrome
Facio-digito-genital syndrome, Kuwait type
Facio-genito-popliteal syndrome
Facio-oculo-acoustico-renal syndrome
Fallot complex-intellectual disability-growth delay syndrome
Familial advanced sleep-phase syndrome
Familial articular hypermobility syndrome
Familial atypical mole syndrome
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Familial atypical multiple mole melanoma syndrome
Familial chylomicronemia syndrome
Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Familial cold autoinflammatory syndrome type 2
Familial continuous skin peeling syndrome
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Familial dysplastic nevus syndrome
Familial episodic pain syndrome
Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly upper body involvement
Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Familial intestinal polyatresia syndrome
Familial joint instability syndrome
Familial long QT syndrome
Familial monosomy 7 syndrome
Familial multinodular goiter syndrome
Familial multiple lentigines syndrome
Familial multiple lentigines syndrome without systemic involvement
Familial omphalocele syndrome with facial dysmorphism
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Familial scaphocephaly-radioulnar synostosis syndrome
Familial scaphocephaly syndrome
Familial scaphocephaly syndrome, McGillivray type
Familial short QT syndrome
Familial sick sinus syndrome
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
Familial woolly hair syndrome
Familial wooly hair syndrome
FAMMM syndrome
FAMM-PC syndrome
Fanconi-Bickel syndrome
Fara-Chlupackova syndrome
Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome
Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
FATCO syndrome
Faulk-Epstein-Jones syndrome
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
FCS syndrome
FDLAB syndrome
FD/MAS syndrome
Febrile infection-related epilepsy syndrome
Feigenbaum-Bergeron-Richardson syndrome
Feingold syndrome
Feingold syndrome type 1
Feingold syndrome type 2
Felty syndrome
Femoral-facial syndrome
Femoral hypoplasia-unusual facies syndrome
Femur-fibula-ulna syndrome
Fenton-Wilkinson-Toselano syndrome
Ferlini-Ragno-Calzolari syndrome
Ferro-cerebro-cutaneous syndrome
Fetal acitretin/etretinate syndrome
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fetal alcohol syndrome
Fetal aminopterin syndrome
Fetal anticonvulsant syndrome
Fetal antiepileptic drug syndrome
Fetal carbamazepine syndrome
Fetal cocaine syndrome
Fetal cytomegalovirus syndrome
Fetal dihydantoin syndrome
Fetal encasement syndrome
Fetal face syndrome
Fetal hydantoin syndrome
Fetal indomethacin syndrome
Fetal iodine syndrome
Fetal methylmercury syndrome
Fetal minoxidil syndrome
Fetal parvovirus syndrome
Fetal rubella syndrome
Fetal thalidomide syndrome
Fetal trimethadione syndrome
Fetal valproate syndrome
Fetal valproic acid syndrome
Feto-fetal transfusion syndrome
Fever-associated acute infantile liver failure syndrome
FG syndrome type 1
FHEIG syndrome
FHONDA syndrome
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Fibrous dysplasia/McCune-Albright syndrome
Fibular aplasia-complex brachydactyly syndrome
Fibular aplasia-ectrodactyly syndrome
Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
Fibular dimelia-diplopodia syndrome
Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Figuera syndrome
Filippi syndrome
FILS syndrome
Fine-Lubinsky syndrome
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Finlay-Marks syndrome
Finucane-Kurtz-Scott syndrome
Fisher syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Fitzsimmons-Walson-Mellor syndrome
Flat face-microstomia-ear anomaly syndrome
Floating-Harbor syndrome
FLOTCH syndrome
Flynn-Aird syndrome
FOAR syndrome
Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
Focal stiff limb syndrome
Focal stiff-person syndrome
Foix-Alajouanine syndrome
Foix-Chavany-Marie syndrome
Fontaine progeroid syndrome
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
Forney-Robinson-Pascoe syndrome
Forney syndrome
Forsius-Eriksson syndrome
FOSMN syndrome
Fountain syndrome
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Foveal hypoplasia-presenile cataract syndrome
Fowler-Christmas-Chapple syndrome
Fowler syndrome
Fowler urethral sphincter dysfunction syndrome
FOXG1 syndrome
FOXG1 syndrome due to 14q12 microdeletion
FOXG1 syndrome due to intragenic alteration
FOXP1 syndrome
Fragile X-associated tremor/ataxia syndrome
Fragile X syndrome
Fragoso-Cantú syndrome
Franceschetti-Klein syndrome
François dyscephalic syndrome
François syndrome
Franek-Bocker-Kahlen syndrome
Frank-Ter Haar syndrome
Fraser syndrome
Frasier syndrome
FRAXA syndrome
FRAXF syndrome
FraX syndrome
Freeman-Burian syndrome
Freeman-Sheldon syndrome
Freeman-Sheldon syndrome variant
Freire Maia-Pinheiro-Opitz syndrome
Freire-Maia syndrome
Fried-Goldberg-Mundel syndrome
Friedman-Goodman syndrome
Fried's tooth and nail syndrome
Fried syndrome
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Froster-Huch syndrome
Froster-Iskenius-Waterson-Hall syndrome
Frydman-Cohen-Karmon syndrome
Fryns-Hofkens-Fabry syndrome
Fryns microphthalmia syndrome
Fryns-Smeets-Thiry syndrome
Fryns syndrome
F syndrome
Fuhrmann-Rieger-de Sousa syndrome
Fuhrmann syndrome
Fukuhara syndrome
Functional variant of Guillain-Barré syndrome
Furukawa-Takagi-Nakao syndrome
FXTAS syndrome
Gabriele-de Vries syndrome
Gaisböck syndrome
Galloway-Mowat syndrome
Galloway syndrome
Game-Friedman-Paradice syndrome
GAPO syndrome
Garcia-Lurie syndrome
Gardner-Diamond syndrome
Gardner-Silengo-Wachtel syndrome
Gardner syndrome
Gastrocutaneous syndrome
Gastrointestinal polyposis-ectodermal changes syndrome
Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GCM syndrome
Gemignani syndrome
GEMSS syndrome
Generalized basaloid follicular hamartoma syndrome
Generalized epilepsy-paroxysmal dyskinesia syndrome
Generalized glucocorticoid resistance syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
Generalized peeling skin syndrome
Generalized peeling skin syndrome type A
Generalized peeling skin syndrome type B
Generalized peeling skin syndrome type C
Genetic autoinflammatory syndrome with skin involvement
Genetic branchial arch or oral-acral syndrome
Genetic hemolytic uremic syndrome
Genetic lethal multiple congenital anomalies/dysmorphic syndrome
Genetic malformation syndrome with odontal and/or periodontal component
Genetic malformation syndrome with short stature
Genetic multiple congenital anomalies/dysmorphic syndrome
Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Genetic nephrotic syndrome
Genetic overgrowth/obesity syndrome
Genetic progeroid syndrome
Genetic steroid-resistant nephrotic syndrome
Genetic syndrome with a central nervous system malformation as a major feature
Genetic syndrome with a cerebellar malformation as a major feature
Genetic syndrome with a CNS malformation as major feature
Genetic syndrome with a Dandy-Walker malformation as a major feature
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Genetic syndrome with limb malformations as a major feature
Genetic syndrome with limb reduction defects
Genetic syndromic Pierre Robin syndrome
Genitopalatocardiac syndrome
Genitopatellar syndrome
Genoa syndrome
Gentile syndrome
Gerhardt syndrome
German syndrome
Gershoni-Baruch-Leibo syndrome
Gershoni-Baruch syndrome
Gerstmann-Straussler-Scheinker syndrome
Gerstmann syndrome
Ghosal syndrome
Giant platelet syndrome
Gillespie syndrome
Gingival fibromatosis-facial dysmorphism syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Gingival fibromatosis-hypertrichosis syndrome
Gingival fibromatosis-progressive deafness syndrome
Gingival fibromatosis-progressive hearing loss syndrome
Gitelman syndrome
Giuffré-Tsukahara syndrome
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Glaucoma-sleep apnea syndrome
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Global developmental delay-osteopenia-ectodermal defect syndrome
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
GLOW syndrome
Glucagonoma syndrome
GMS syndrome
GNB5-related intellectual disability-cardiac arrhythmia syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
Golabi-Rosen syndrome
Goldberg-Maxwell syndrome
Goldberg-Shprintzen megacolon syndrome
Goldberg syndrome
Goldblatt syndrome
Goldblatt-Viljoen syndrome
Goldblatt-Wallis syndrome
Goldmann-Favre syndrome
Goldston syndrome
Gollop syndrome
Goltz-Gorlin syndrome
Goltz syndrome
Gómez-López-Hernández syndrome
Goniodysgenesis-intellectual disability-short stature syndrome
Gonzales-del Angel syndrome
Goodman syndrome
Goodpasture syndrome
Good syndrome
Goossens-Devriendt syndrome
Gordon-Holmes syndrome
Gordon hyperkalemia-hypertension syndrome
Gordon syndrome
Gorham syndrome
Gorlin-Chaudhry-Moss syndrome
Gorlin-Goltz syndrome
Gorlin syndrome
Gottron syndrome
GRACILE syndrome
Graham-Boyle-Troxell syndrome
Graham-Cox syndrome
Graham Little-Piccardi-Lassueur syndrome
Graham Little syndrome
Grange occlusive arterial syndrome
Grange syndrome
Grant syndrome
Granulomatous autoinflammatory syndrome
Granulomatous autoinflammatory syndrome of childhood
Gray platelet syndrome
Greig cephalopolysyndactyly syndrome
Grisart-Destrée syndrome
Griscelli-Pruniéras syndrome
Griscelli-Pruniéras syndrome type 1
Griscelli-Pruniéras syndrome type 2
Griscelli-Pruniéras syndrome type 3
Griscelli syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Groll-Hirschowitz syndrome
Gronblad-Strandberg-Touraine syndrome
Growing teratoma syndrome
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Growth delay-deafness-intellectual disability syndrome
Growth delay-hearing loss-intellectual disability syndrome
Growth delay-hydrocephaly-lung hypoplasia syndrome
Growth delay-intellectual disability-hepatopathy syndrome
Growth hormone insensitivity syndrome
Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Grubben-de Cock-Borghgraef syndrome
Grzybowski syndrome
Guibaud-Vainsel syndrome
Guillain-Barré-Strohl syndrome
Guillain-Barré syndrome
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
Guízar Vázquez-Luengas-Muñoz syndrome
Guízar Vázquez-Sánchez-Manzano syndrome
Gunal-Seber-Basaran syndrome
Gurrieri-Sammito-Bellussi syndrome
Guttmacher syndrome
Haberland syndrome
Haddad syndrome
Hadziselimovic syndrome
Haim-Munk syndrome
Hairy elbows syndrome
Hairy throat syndrome
Hajdu-Cheney syndrome
Halal-Setton-Wang syndrome
Halasz syndrome
Hal-Berg-Rudolph syndrome
Hallermann-Streiff-François syndrome, severe form
Hallermann-Streiff-like syndrome
Hallermann-Streiff syndrome
Hallervorden-Spatz syndrome
Hall-Hittner syndrome
Hall-Riggs syndrome
Hallux varus-preaxial polysyndactyly syndrome
Hamamy syndrome
Hamanishi-Ueba-Tsuji syndrome
Hamano-Tsukamoto syndrome
Hamel cerebro-palato-cardiac syndrome
Hamman-Rich syndrome
HAM syndrome
HANAC syndrome
Hand and foot deformity-flat facies syndrome
Hand-foot-genital syndrome
Hand-foot-uterus syndrome
Hanhart syndrome
Hanot syndrome
Hantavirus pulmonary syndrome
Hapnes-Boman-Skeie syndrome
Harboyan syndrome
Hardcastle syndrome
Hardikar syndrome
Hard skin syndrome, Parana type
HARD syndrome
Harel-Yoon syndrome
Harlequin syndrome
Harrod syndrome
Hartsfield syndrome
Haspeslagh-Fryns-Muelenaere syndrome
Hay-Wells syndrome
HbC-beta-thalassemia syndrome
HbE-beta-thalassemia syndrome
HbLepore-beta-thalassemia syndrome
HbS-beta-thalassemia syndrome
HD-HA syndrome
HDR syndrome
Hearing loss-craniofacial syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
Hearing loss-ear malformation-facial palsy syndrome
Hearing loss-enamel hypoplasia-nail defects syndrome
Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Hearing loss-epiphyseal dysplasia-short stature syndrome
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome
Hearing loss-Hermann type symphalangism syndrome
Hearing loss-hypogonadism syndrome
Hearing loss-infertility syndrome
Hearing loss-intellectual disability syndrome, Martin-Probst type
Hearing loss-lymphedema-leukemia syndrome
Hearing loss-nephritis-ano-rectal malformation syndrome
Hearing loss-oligodontia syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-pili torti-hypogonadism syndrome
Hearing loss-skeletal dysplasia-coarse face with full lips syndrome
Hearing loss-skeletal dysplasia-lip granuloma syndrome
Hearing loss-small bowel diverticulosis-neuropathy syndrome
Hearing loss-vitiligo-achalasia syndrome
Heart defects-limb shortening syndrome
Heart defect-tongue hamartoma-polysyndactyly syndrome
Heart-hand syndrome
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
Heart-hand syndrome type 1
Heart-hand syndrome type 2
Heart-hand syndrome type 3
Heart-limb syndrome type 3
Hecht-Beals syndrome
Hecht-Scott syndrome
Hecht syndrome
HEC syndrome
HEDH syndrome
Heide syndrome
Heimler syndrome
Heiner syndrome
HELIX syndrome
Heller syndrome
HELLP syndrome
Helsmoortel-Van Der Aa Syndrome
HEM1 deficiency syndrome
Hemangioma-thrombocytopenia syndrome
Hemi 3 syndrome
Hemiconvulsion-hemiplegia-epilepsy syndrome
Hemidystonia-hemiatrophy syndrome
Hemifacial hyperplasia-strabismus syndrome
Hemifacial microsomia-radial defects syndrome
Hemihyperplasia-multiple lipomatosis syndrome
Hemiparkinsonism-hemiatrophy syndrome
Hemoglobin C-beta-thalassemia syndrome
Hemoglobin E-beta-thalassemia syndrome
Hemoglobin Lepore-beta-thalassemia syndrome
Hemolysis-elevated liver enzymes-low platelets syndrome
Hemolytic uremic syndrome
Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli
Hemolytic uremic syndrome with DGKE deficiency
Hemolytic uremic syndrome with diarrhea
Hemophagocytic syndrome
Hemophagocytic syndrome associated with an infection
Hemorrhagic fever-renal syndrome
Hennekam-Beemer syndrome
Hennekam syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome
Hereditary arterial and articular multiple calcification syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Hereditary hyperferritinemia-cataract syndrome
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary mixed polyposis syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Hereditary nephrotic syndrome
Hereditary periodic fever syndrome
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
Hereditary site-specific ovarian cancer syndrome
Hereditary steroid-resistant nephrotic syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Herlyn-Werner syndrome
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome due to AP-3 deficiency
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Hermansky-Pudlak syndrome with neutropenia
Hermansky-Pudlak syndrome without pulmonary fibrosis
Hermansky-Pudlak syndrome with pulmonary fibrosis
Hernández-Aguirre Negrete syndrome
Hernández-Fragoso syndrome
Heterotaxy syndrome
HHE syndrome
HHH syndrome
High myopia-sensorineural deafness syndrome
High myopia-sensorineural hearing loss syndrome
HI/HA syndrome
Hinman-Allen syndrome
Hinman syndrome
Hip dysplasia-enchondromata-ecchondroma syndrome
Hirschsprung disease-deafness-polydactyly syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-intellectual disability syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
Hirsutism-congenital gingival hyperplasia syndrome
Histidinuria-renal tubular defect syndrome
HMC syndrome
Hoepffner-Dreyer-Reimers syndrome
Hoffmann syndrome
Hoffman syndrome
Holmes-Adie syndrome
Holmes-Collins syndrome
Holmes-Schepens syndrome
Holoprosencephaly-caudal dysgenesis syndrome
Holoprosencephaly-craniosynostosis syndrome
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
Holoprosencephaly-postaxial polydactyly syndrome
Holoprosencephaly-radial heart renal anomalies syndrome
Holt-Oram syndrome
Holzgreve syndrome
Holzgreve-Wagner-Rehder syndrome
Homozygous 2p21 microdeletion syndrome
HOPP syndrome
Hornstein-Knickenberg syndrome
Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual
 disability-pulmonary involvement syndrome
Houlston-Ironton-Temple syndrome
Howell-Evans syndrome
Hoyeraal-Hreidarsson syndrome
HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white
 matter lesions syndrome
HPFH-beta-thalassemia syndrome
HPFH-sickle cell disease syndrome
HP-HA syndrome
HRD syndrome
H syndrome
Hughes-Stovin syndrome
Hughes syndrome
Hunter-Jurenka-Thompson syndrome
Hunter-McAlpine syndrome
Hunter-Rudd-Hoffmann syndrome
Hunter syndrome
Hunter syndrome type A
Hunter syndrome type B
Hunter-Thompson-Reed syndrome
Huntington disease-like syndrome
Huntington disease-like syndrome due to C9ORF72 expansions
Huntington disease phenocopy syndrome
Huppke-Brendel syndrome
HUPRA syndrome
Huriez syndrome
Hurler-Scheie syndrome
Hurler syndrome
Hutchinson-Gilford progeria syndrome
Hyaline fibromatosis syndrome
Hyde Forster-McCarthy-Berry syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
Hydrocephalus-blue sclerae-nephropathy syndrome
Hydrocephalus-cleft palate-joint contractures syndrome
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Hydrocephalus-endocardial fibroelastosis-cataract syndrome
Hydrocephalus-obesity-hypogonadism syndrome
Hydrocephaly-cerebellar agenesis syndrome
Hydrocephaly-low insertion umbilicus syndrome
Hydrocephaly-tall stature-joint laxity syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
Hydronephrosis-inverted smile syndrome
Hydrops-ectopic calcification-motheaten syndrome
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hypercalciuria-bilateral macular coloboma syndrome
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hypercontractile muscle stiffness syndrome
Hyperekplexia-epilepsy syndrome
Hypereosinophilic syndrome
Hypergonadotropic hypogonadism-cataract syndrome
Hyper-IgD syndrome
Hyper-IgE syndrome
Hyper-IgM syndrome due to CD40 deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 4
Hyper-IgM syndrome type 5
Hyper-IgM syndrome without susceptibility to opportunistic infections
Hyper-IgM syndrome with susceptibility to opportunistic infections
Hyperimmunoglobulinemia D syndrome
Hyperimmunoglobulin E-recurrent infection syndrome
Hyperimmunoglobulin E syndrome type 1
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemia-hypertension syndrome, Gordon type
Hyperkeratosis-hyperpigmentation syndrome
Hypermobile Ehlers-Danlos syndrome
Hypernychthemeral syndrome
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperparathyroidism-jaw tumor syndrome
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Hyperphosphatasia-intellectual disability syndrome
Hyperplastic polyposis syndrome
Hypertelorism-hypospadias-polysyndactyly syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-microtia-facial clefting syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Hypodontia-dysplasia of nails syndrome
Hypodontia-nail dysgenesis syndrome
Hypogenetic lung syndrome
Hypoglossia-hypodactyly syndrome
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Hypomyelination-congenital cataract syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Hypomyelination neuropathy-arthrogryposis syndrome
Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Hypopigmentation-deafness syndrome
Hypopigmentation-hearing loss syndrome
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
Hypopigmentation-neurologic impairment syndrome
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypopituitarism due to empty sella turcica syndrome
Hypoplastic left heart syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Hypoplastic right heart syndrome
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Hypospadias-dysphagia syndrome
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypotelorism-cleft palate-hypospadias syndrome
Hypothalamic adipsic hypernatraemia syndrome
Hypothalamic hamartoblastoma syndrome
Hypothyroidism-cleft palate syndrome
Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome
Hypotonia-cystinuria syndrome
Hypotonia-cystinuria type 1 syndrome
Hypotonia-failure to thrive-microcephaly syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome
Hypotrichosis-congenital ichthyosis syndrome
Hypotrichosis-deafness syndrome
Hypotrichosis-hearing loss syndrome
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
ICCA syndrome
ICE syndrome
ICF syndrome
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
Ichthyosis follicularis-alopecia-photophobia syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
Ichthyosis-hypotrichosis syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Ichthyosis-oral and digital anomalies syndrome
Ichthyosis-prematurity syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
idic (15) syndrome
Idiopathic capillary leak syndrome
Idiopathic dropped head syndrome
Idiopathic hemiconvulsion-hemiplegia syndrome
Idiopathic hypereosinophilic syndrome
Idiopathic multidrug-resistant nephrotic syndrome
Idiopathic nephrotic syndrome
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome
Idiopathic steroid-resistant nephrotic syndrome
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
Idiopathic steroid-sensitive nephrotic syndrome
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Idiopathic uveal effusion syndrome
Ieshima-Koeda-Inagaki syndrome
IFAH syndrome
IFAP syndrome
IGSF1 deficiency syndrome
IHPRF syndrome
Illum syndrome
ILNEB syndrome
IMAGe syndrome
Imerslund-Gräsbeck syndrome
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Immunodeficiency-short limb dwarfism syndrome
Immunodeficiency syndrome with autoimmunity
Immunodeficiency syndrome with hypopigmentation
Imperforate anus-hand, foot and ear anomalies syndrome
Imperforate oropharynx-costovertebral anomalies syndrome
Imploding antrum syndrome
Incomplete Meigs syndrome
Index finger anomaly-Pierre Robin syndrome
Infant acute respiratory distress syndrome
Infantile choroidocerebral calcification syndrome
Infantile epilepsy syndrome
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Infantile hypotonia-psychomotor retardation-characteristic facies syndrome
Infantile juvenile polyposis syndrome
Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
Infantile spasms-broad thumbs syndrome
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Infantile spasms syndrome
Infantile subacute necrotizing encephalopathy with nephrotic syndrome
Infant respiratory distress syndrome
Infection-related hemolytic uremic syndrome
Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
Inflammatory peeling skin syndrome
Inherited cancer-predisposing syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Inherited digestive cancer-predisposing syndrome
Inherited gynecological cancer-predisposing syndrome
Inherited hematologic cancer-predisposing syndrome
Inherited nervous system cancer-predisposing syndrome
Inherited renal cancer-predisposing syndrome
Insulin autoimmune syndrome
Insulin-resistance syndrome type A
Insulin-resistance syndrome type B
Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
Intellectual disability-alacrima-achalasia syndrome
Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Intellectual disability-balding-patella luxation-acromicria syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Intellectual disability-early-onset cataract-microcephaly syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-epilepsy-bulbous nose syndrome
Intellectual disability-epilepsy-endocrine disorders syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Intellectual disability-hypotonia-facial dysmorphism syndrome
Intellectual disability-loss of expressive language-facial dysmorphism syndrome
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Intellectual disability-myopathy-short stature-endocrine defect syndrome
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Intellectual disability-polydactyly-uncombable hair syndrome
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-short stature-hand contractures-genital anomalies syndrome
Intellectual disability-short stature-hypertelorism syndrome
Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Intellectual disability-strabismus syndrome
Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
Intellectual disability-truncal obesity syndrome
Intercostal nerve syndrome
Intermediate DEND syndrome
Interstitial cystitis/bladder pain syndrome
Interstitial cystitis/painful bladder syndrome
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Intestinal polyposis syndrome
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased
  sister chromatid exchange syndrome
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
Invasive candidiasis-deep dermatophytosis syndrome
Inv dup (15) syndrome
Inverse Klippel-Trénaunay syndrome
Inverted 8p duplication/deletion syndrome
Inverted duplicated chromosome 15 syndrome
Inverted smile-neurogenic bladder syndrome
IOMID syndrome
Ipp-Gelfand syndrome
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
IRIDA syndrome
Iridocorneal endothelial syndrome
Irons-Bhan syndrome
Irons-Bianchi syndrome
IRVAN syndrome
Isaacs-Mertens syndrome
Isaacs syndrome
Ischiovertebral syndrome
Isochromosome 12p syndrome
Isodicentric chromosome 15 syndrome
Iso-Kikuchi syndrome
Isolated anophthalmia-microphthalmia syndrome
Isolated Klippel-Feil syndrome
Isolated median cleft face syndrome
Isolated Pierre Robin syndrome
Isotretinoin-like syndrome
Jackson-Barr syndrome
Jackson-Weiss syndrome
Jacobsen syndrome
Jacobs syndrome
Jagell-Holmgren-Hofer syndrome
Jalili syndrome
Jamaican vomiting syndrome
Jancar syndrome
Jankovic-Rivera syndrome
Jarcho-Levin syndrome
Jawad syndrome
Jaw-winking syndrome
Jeavons syndrome
JEB with interstitial lung disease and nephrotic syndrome
Jejunal atresia-microcephaly-ocular anomalies syndrome
Jervell and Lange-Nielsen syndrome
Jeune syndrome
Job syndrome
Johanson-Blizzard syndrome
Johnson-McMillin syndrome
Johnson-Munson syndrome
Johnson neuroectodermal syndrome
Johnson syndrome
Johnston-Aarons-Schelley syndrome
Joint instability syndrome
Jones syndrome
Joubert-Boltshauser syndrome
Joubert syndrome
Joubert syndrome and related disorders
Joubert syndrome type A
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect
Joubert syndrome with JATD
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
Joubert syndrome with renal defect
Joubert syndrome with retinopathy
Joubert syndrome with Senior-Loken syndrome
Juberg-Hayward syndrome
Juberg-Hellman syndrome
Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome
Jung syndrome
Jussieu syndrome
Juvenile cataract-microcornea-renal glucosuria syndrome
Juvenile cataract-microcornea-renal glycosuria syndrome
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Juvenile or adult CACH syndrome
Juvenile polyposis syndrome
Kabuki make-up syndrome
Kabuki syndrome
Kaeser syndrome
Kagami-Ogata syndrome
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Kaler-Garrity-Stern syndrome
Kallin syndrome
Kallmann syndrome
Kallmann syndrome-heart disease syndrome
Kaplan-Plauchu-Fitch syndrome
Kapur-Toriello syndrome
Karandikar-Maria-Kamble syndrome
Karsch-Neugebauer syndrome
Kasabach-Merritt syndrome
KAT6A syndrome
KAT6B-related multiple congenital anomalies syndrome
Kaufman-Mckusick syndrome
Kawashima syndrome
Kawashima-Tsuji syndrome
KBG syndrome
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Kearns-Sayre syndrome
Keipert syndrome
Kelley-Seegmiller syndrome
Kelly-Paterson syndrome
Kennedy-Teebi syndrome
Kenny-Caffey syndrome
Kenny syndrome
Keppen-Lubinsky syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Keratosis palmaris et plantaris-clinodactyly syndrome
Keratosis palmoplantaris-corneal dystrophy syndrome
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Keratosis palmoplantar-periodontopathy syndrome
Kersey syndrome
Ketoaciduria-intellectual disability-ataxia-deafness syndrome
Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
Keutel syndrome
Khalifa-Graham syndrome
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
KID/HID syndrome
Kidney tubulopathy-dilated cardiomyopathy syndrome
KID syndrome
Kindler syndrome
King-Denborough syndrome
Kinsbourne syndrome
KINSSHIP syndrome
Kjellin syndrome
Kleefstra syndrome
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to a point mutation
Kleefstra syndrome due to del(9)(q34)
Kleefstra syndrome due to monosomy 9q34
Kleine-Levin syndrome
Kleiner-Holmes syndrome
Klein-Waardenburg syndrome
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
KLHL7-related Bohring-Opitz-like syndrome
KLHL7-related BOS-like syndrome
KLHL7-related Crisponi/cold-induced sweating-like syndrome
KLHL7-related Crisponi-like syndrome
KLICK syndrome
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Klippel-Trénaunay syndrome
Klippel-Trénaunay-Weber syndrome
Klüver-Bucy syndrome
KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Knobloch-Layer syndrome
Knobloch syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
Kocher-Debré-Semelaigne syndrome
Köhlmeier-Degos-Delort-Tricort syndrome
Kohlschütter-Tönz syndrome
Koolen-De Vries syndrome
Koolen-De Vries syndrome due to a point mutation
Kopysc-Barczyk-Krol syndrome
Kosaki overgrowth syndrome
Kosenow syndrome
Kostmann syndrome
Kosztolanyi syndrome
Kousseff syndrome
Koussef-Nichols syndrome
Kowarski syndrome
Kozlowski-Krajewska syndrome
Kozlowski-Tsuruta syndrome
Krasnow-Qazi syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Kreiborg-Pakistani syndrome
Kufor-Rakeb syndrome
Kunze-Riehm syndrome
Kuskokwim syndrome
Kuzniecky syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
Kyphoscoliotic Ehlers-Danlos syndrome
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
L1CAM syndrome
L1 syndrome
Laband syndrome
Labrune syndrome
Lacrimoauriculodentodigital syndrome
Lacrimoauriculoradiodental syndrome
Ladda-Zonana-Ramer syndrome
LADD syndrome
Lagophthalmia-cleft lip and palate syndrome
LAMA5-related multisystemic syndrome
Lambert-Eaton myasthenic syndrome
Lambert syndrome
Lamb-Shaffer syndrome
LAMM syndrome
Landau-Kleffner syndrome
Langer-Giedion syndrome
LARD syndrome
Laron-like syndrome
Laron syndrome
Laron syndrome with immunodeficiency
Larsen-like osseous dysplasia-short stature syndrome
Larsen-like syndrome, B3GAT3 type
Larsen syndrome
Laryngeal abductor paralysis-intellectual disability syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Laryngo-onycho-cutaneous syndrome
Late infantile CACH syndrome
Late-onset localized JEB-intellectual disability syndrome
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Late-onset scapuloperoneal syndrome, myopathic type
Lateral meningocele syndrome
Laubry-Pezzi syndrome
Laurence-Moon syndrome
Laurin-Sandrow syndrome
Lawrence-Seip syndrome
Lawrence syndrome
Laxova-Opitz syndrome
LBWC syndrome
Learman syndrome
Left renal vein entrapment syndrome
Leg duplication-mirror foot syndrome
Legius syndrome
Lehman syndrome
Leichtman-Wood-Rohn syndrome
Leigh disease with nephrotic syndrome
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
Leigh syndrome
Leigh syndrome due to PC deficiency
Leigh syndrome due to pyruvate carboxylase deficiency
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Lelis syndrome
Lemierre syndrome
Lenk-Ploski syndrome
Lennox-Gastaut syndrome
LEOPARD syndrome
Lepore-beta-thalassemia syndrome
Léri-Weill syndrome
Lesch-Nyhan syndrome
Lethal 1p36.33 deletion syndrome
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Lethal congenital contracture syndrome
Lethal congenital contracture syndrome type 1
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
Lethal congenital contracture syndrome type 5
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal hemolytic anemia-genital anomalies syndrome
Lethal hydranencephaly-diaphragmatic hernia syndrome
Lethal hydrocephalus-cardiac malformation-dense bones syndrome
Lethal hyperkeratosis-contracture syndrome
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Lethal Larsen-like syndrome
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Lethal multiple congenital anomalies/dysmorphic syndrome
Lethal multiple pterygium syndrome
Lethal neonatal rigidity-multifocal seizure syndrome
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal omphalocele-cleft palate syndrome
Lethal polymalformative syndrome, Boissel type
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to
 biallelic deletions in the ATAD3 gene cluster
Lethal popliteal pterygium syndrome
Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
Lethal tight skin-contracture syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
Leukoencephalopathy-palmoplantar keratoderma syndrome
Leukoencephalopathy-SEMD syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
Levic-Stefanovic-Nikolic syndrome
Levine-Critchley syndrome
Levy-Hollister syndrome
Lewandowsky-Lutz syndrome
Lewis-Sumner syndrome
LGL syndrome
Liberfarb syndrome
Lichtenstein-Knorr syndrome
Lichtenstein syndrome
Liddle syndrome
Liebenberg syndrome
Li-Fraumeni syndrome
LIG4 syndrome
Ligase 4 syndrome
Limb-girdle muscular dystrophy-intellectual disability syndrome
Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome
Limb-mammary syndrome
Lindsay-Burn syndrome
Linear hamartoma syndrome
Linear nevus sebaceus syndrome
Linear verrucous nevus syndrome
Lipodystrophy-intellectual disability-deafness syndrome
Lipodystrophy-intellectual disability-hearing loss syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Lip-pit syndrome
Lisker-Garcia-Ramos syndrome
Lison syndrome
Lissencephaly syndrome, Norman-Roberts type
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
LMNA-related cardiocutaneous progeria syndrome
Locked-in syndrome
LOC syndrome
Loeys-Dietz syndrome
LOGIC syndrome
Long eyelashes-intellectual disability syndrome
Longman-Tolmie syndrome
Long QT interval-deafness syndrome
Long QT interval-hearing loss syndrome
Long QT syndrome-syndactyly syndrome
Long QT syndrome type 7
Long QT syndrome type 8
Loose anagen syndrome
Lopes-Gorlin syndrome
Lopes-Marques de Faria syndrome
Loucks-Innes syndrome
Louis-Bar syndrome
Lowe-Kohn-Cohen syndrome
Lowe oculo-cerebro-renal syndrome
Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal
  and arterial malformations-renal anomalies syndrome
Lower limb malformation-hypospadias syndrome
Lower motor neuron syndrome with late-adult onset
Lowe syndrome
Lown-Ganong-Levine syndrome
Lowry-MacLean syndrome
Lowry-Wood syndrome
Lowry-Yong syndrome
Lubag syndrome
Lubani-Al Saleh-Teebi syndrome
Lubinsky syndrome
Lucey-Driscoll syndrome
Lujan-Fryns syndrome
LUMBAR syndrome
Lundberg syndrome
Lung agenesis-heart defect-thumb anomalies syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Luscan-Lumish syndrome
Lyell syndrome
Lymphedema-atrial septal defects-facial changes syndrome
Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
Lymphedema-distichiasis syndrome
Lymphedema-hypoparathyroidism syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
Lymphedema-posterior choanal atresia syndrome
Lymphocytic hypereosinophilic syndrome
Lymphoproliferative syndrome
Lynch-Lee-Murday syndrome
Lynch syndrome
Lyngstadaas syndrome
Mabry syndrome
MacDermot-Patton-Williams syndrome
MacDermot-Winter syndrome
Mac Duffie syndrome
Macias Flores-Garcia Cruz-Rivera syndrome
Mackay-Shek-Carr syndrome
MACOM syndrome
Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
Macrocephalic sperm head syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
Macrocephaly-capillary malformation syndrome
Macrocephaly-cutis marmorata telangiectatica congenita syndrome
Macrocephaly-developmental delay syndrome
Macrocephaly-intellectual disability-autism syndrome
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
Macrocephaly-short stature-paraplegia syndrome
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Macrophage activation syndrome
Macrosomia-microphthalmia-cleft palate syndrome
Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
MACS syndrome
Macular coloboma-cleft palate-hallux valgus syndrome
Maeda syndrome
Maffucci syndrome
MAGEL2-related Prader-Willi-like syndrome
MAGIC syndrome
Majeed syndrome
Malan overgrowth syndrome
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Malformation syndrome
Malformation syndrome with hamartosis
Malformation syndrome with odontal and/or periodontal component
Malformation syndrome with short stature
Malformative syndrome with dentinogenesis imperfecta
Malignant carcinoid syndrome
Malignant hyperthermia-arthrogryposis-torticollis syndrome
Malouf syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
Mammary-digital-nail syndrome
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Mandibular hypoplasia-hearing loss-progeroid syndrome
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Mandibulo-palpebral synkinesis-ptosis syndrome
Manitoba oculotrichoanal syndrome
MARCH syndrome
Marcus-Gunn syndrome
Marden-Walker-like syndrome
Marden-Walker syndrome
Mardini-Nyhan syndrome
Marfanoid craniosynostosis syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Marfanoid syndrome, De Silva type
Marfan syndrome
Marfan syndrome and Marfan-related disorders
Marfan syndrome type 1
Marfan syndrome type 2
Marin-Amat syndrome
Marinesco-Sjögren syndrome
Marles-Greenberg-Persaud syndrome
Marles syndrome
Maroteaux-Le Merrer-Bensahel syndrome
Maroteaux-Malamut syndrome
Maroteaux-Stanescu-Cousin syndrome
Maroteaux-Verloes-Stanescu syndrome
Marshall-Smith syndrome
Marshall syndrome
Marshall syndrome with periodic fever
Martin-Bell syndrome
Martin-Probst syndrome
Martsolf-like syndrome
Martsolf syndrome
MASA syndrome
Mastocytosis-short stature-deafness syndrome
Mastocytosis-short stature-hearing loss syndrome
Mast syndrome
Mathieu-De Broca-Bony syndrome
Matthew-Wood syndrome
Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Mazabraud syndrome
Mazzanti syndrome
McCune-Albright syndrome
McDonough syndrome
McDuffie syndrome
McGrath syndrome
McKusick-Kaufman syndrome
McLeod neuroacanthocytosis syndrome
McPherson-Clemens syndrome
McPherson-Hall syndrome
MDN syndrome
MDPL syndrome
MDP syndrome
Meacham syndrome
Meacham-Winn-Culler syndrome
MEB syndrome
Meckel-Gruber syndrome
Meckel-like syndrome type 1
Meckel syndrome
Meckel syndrome type 7
Meconium aspiration syndrome
MECP2 duplication syndrome
MED13L-related intellectual disability syndrome
MEDAC syndrome
Medeira-Dennis-Donnai syndrome
Median arcuate ligament syndrome
Median cleft face syndrome
Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome
Medich giant platelet syndrome
MEDNIK syndrome
Meester-Loeys syndrome
Megacolon-microcephaly syndrome
Megacystis-megaureter syndrome
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalencephaly-capillary malformation syndrome
Megalencephaly-cutis marmorata telangiectatica congenita syndrome
Megalencephaly-cystic leukodystrophy syndrome
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Megalocornea-intellectual disability syndrome
Megalocornea-spherophakia-secondary glaucoma syndrome
Mégarbané-Loiselet syndrome
Megaureter-megacystis syndrome
MEGDEL syndrome
Mehes syndrome
MEHMO syndrome
Meier-Blumberg-Imahorn syndrome
Meier-Gorlin syndrome
Meige syndrome
Meigs syndrome
Melanoma and neural system tumor syndrome
Melanoma-astrocytoma syndrome
Melanoma-pancreatic cancer syndrome
Melhem-Fahl syndrome
Melkersson-Rosenthal syndrome
Melnick-Fraser syndrome
Melnick-Needles syndrome
MEND syndrome
Mengel-Konigsmark syndrome
Menke-Hennekam syndrome
Menkes syndrome
MEPAN syndrome
Mesomelia-synostoses syndrome
Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dwarfism-small genitalia syndrome
Mesulam syndrome
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metopic ridging-ptosis-facial dysmorphism syndrome
Meyer-Schwickerath syndrome
MFDM syndrome
MIC-CAP syndrome
MIC-CM syndrome
Michellis-Castrillo syndrome
Microblepharon-ablephara syndrome
Microbrachycephaly-ptosis-cleft lip syndrome
Microcephalic primordial dwarfism-insulin resistance syndrome
Microcephaly-albinism-digital anomalies syndrome
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Microcephaly-capillary malformation syndrome
Microcephaly-cardiac defect-lung malsegmentation syndrome
Microcephaly-cardiomyopathy syndrome
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome
Microcephaly-cerebral malformation-orofaciodigital syndrome
Microcephaly-cervical spine fusion anomalies syndrome
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-cutaneous capillary malformation syndrome
Microcephaly-deafness-intellectual disability syndrome
Microcephaly-digital anomalies-normal intelligence syndrome
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Microcephaly-faciocardioskeletal syndrome
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Microcephaly-hearing loss-intellectual disability syndrome
Microcephaly-hiatus hernia-nephrotic syndrome
Microcephaly-hypergonadotropic hypogonadism-short stature syndrome
Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
Microcephaly-intracranial calcification-intellectual disability syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-microcornea syndrome, Seemanova type
Microcephaly-micromelia syndrome
Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Microcephaly-seizures-intellectual disability-heart disease syndrome
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Microcephaly-short stature-limb abnormalities syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microcoria-congenital nephrosis syndrome
Microcornea-glaucoma-absent frontal sinuses syndrome
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
Microdontia-type I microtia-deafness syndrome
Microdontia-type I microtia-hearing loss syndrome
Microduplication Xp11.22p11.23 syndrome
Microgastria-limb reduction defect syndrome
Micrognathia digital syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Microlissencephaly-micromelia syndrome
Micromelic dysplasia-dislocation of radius syndrome
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Microphthalmia-anophthalmia-coloboma syndrome
Microphthalmia-brain atrophy syndrome
Microphthalmia-dermal aplasia-sclerocornea syndrome
Microphthalmia-microtia-fetal akinesia syndrome
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Microphthalmia with linear skin defects syndrome
Microspherophakia-metaphyseal dysplasia syndrome
Micro syndrome
Microtia-aortic arch syndrome
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Mid-aortic dysplastic syndrome
Midaortic syndrome
Mid-aortic syndrome
MIDAS syndrome
Middle aortic syndrome
Middle East respiratory syndrome
Mietens syndrome
Mievis-Verellen-Dumoulin syndrome
Mikati-Najjar-Sahli syndrome
Miller-Dieker syndrome
Miller Fisher syndrome
Miller syndrome
Mills syndrome
MINDS syndrome
MIRAGE syndrome
Mirizzi syndrome
Mirror hands and feets-nasal defects syndrome
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Mitchell Syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA deletion syndrome with limb-girdle weakness
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial DNA depletion syndrome, hepatocerebral form
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA maintenance syndrome
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
Mitral regurgitation-deafness-skeletal anomalies syndrome
Mitral regurgitation-hearing loss-skeletal anomalies syndrome
Mixed autoinflammatory and autoimmune syndrome
MLS syndrome
MMCAT syndrome
MMEP syndrome
MMR syndrome
MOBA syndrome
Möbius syndrome
MODED syndrome
MODED syndrome type 1
Moebius syndrome
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Moersch-Woltman syndrome
Moeschler-Clarren syndrome
Mohr-Majewski syndrome
Mohr syndrome
Mohr-Tranebjaerg syndrome
Moloney syndrome
MOMES syndrome
MOMO syndrome
Moniliform hair syndrome
Monoclonal mast cell activation syndrome
Monocyte-B-natural killer-dendritic cell deficiency syndrome
Monocytopenia and mycobacterial infection syndrome
Mononen-Karnes-Senac syndrome
Montgomery syndrome
Moran-Barroso syndrome
Morava-Mehes syndrome
Morgagni-Stewart-Morel syndrome
MORM syndrome
Morning glory syndrome
Morris syndrome
Morse-Rawnsley-Sargent syndrome
Morvan syndrome
Mosaic Legius syndrome
Mosaic neurofibromatosis 1-like syndrome
Mosaic NF1-like syndrome
Mosaic variegated aneuploidy syndrome
MOTA syndrome
Mother-to-child transmission of cytomegalovirus syndrome
Mother-to-child transmission of parvovirus syndrome
Mother-to-child transmission of rubella syndrome
Mother-to-child transmission of varicella syndrome
Mounier-Kühn syndrome
Mousa-Al Din-Al Nassar syndrome
Mouth and genital ulcers-inflamed cartilage syndrome
Mowat-Wilson syndrome
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to a ZEB2 point mutation
Mowat-Wilson syndrome due to del(2)q(22)
Mowat-Wilson syndrome due to monosomy 2q22
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moynahan syndrome
MPPC syndrome
MPPH syndrome
MRAMS syndrome
MRCS syndrome
MRKH syndrome
MRKH syndrome type 1
MRKH syndrome type 2
MSBD syndrome
mtDNA-associated Leigh syndrome
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
mtDNA depletion syndrome
mtDNA depletion syndrome, encephalomyopathic form
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
mtDNA depletion syndrome, hepatocerebral form
mtDNA depletion syndrome, hepatocerebrorenal form
mtDNA depletion syndrome, myopathic form
mtDNA maintenance syndrome
mtDNA maintenance syndrome due to MGME1 deficiency
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Muckle-Wells syndrome
Mucocutaneous lymph node syndrome
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mueller-Weiss syndrome
Muenke syndrome
Muir-Torre syndrome
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Müllerian duct anomalies-limb anomalies syndrome
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Multinodular goiter-cystic kidney-polydactyly syndrome
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Multiple congenital anomalies/dysmorphic syndrome
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
Multiple contracture syndrome, Finnish type
Multiple contracture syndrome, Israeli-Bedouin type
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome
Multiple epiphyseal dysplasia-myopia-deafness syndrome
Multiple epiphyseal dysplasia-myopia-hearing loss syndrome
Multiple hamartoma syndrome
Multiple isolated café-au-lait syndrome
Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Multiple mitochondrial DNA deletion syndrome
Multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Multiple mitochondrial dysfunctions syndrome type 3
Multiple mitochondrial dysfunctions syndrome type 4
Multiple mitochondrial dysfunctions syndrome type 5
Multiple mitochondrial dysfunctions syndrome type 6
Multiple mtDNA deletion syndrome
Multiple pterygium-malignant hyperthermia syndrome
Multiple pterygium syndrome
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Multiple synostoses syndrome
Multisystemic smooth muscle dysfunction syndrome
Multisystem inflammatory syndrome in children and adults
Mulvihill-Smith syndrome
Murray-Puretic-Drescher syndrome
Muscle-eye-brain syndrome
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Muscular pseudohypertrophy-hypothyroidism syndrome
Musculocontractural Ehlers-Danlos syndrome
Mutchinick syndrome
Myalgia-eosinophilia syndrome associated with tryptophan
MYBPC1-related autosomal recessive non-lethal AMC syndrome
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome
Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome
Myelodysplastic syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
MYH7-related late-onset scapuloperoneal syndrome
MYH9-related syndrome
Myhre-Riley-Smith syndrome
Myhre syndrome
Myoclonus-cerebellar ataxia-deafness syndrome
Myoclonus-cerebellar ataxia-hearing loss syndrome
Myoclonus-dystonia syndrome
Myoclonus-nephropathy syndrome
Myopathic Ehlers-Danlos syndrome
Myopathy-Moebius-Robin syndrome
Myotonia-intellectual disability-skeletal anomalies syndrome
Myotonia-painful contractions syndrome
Myotonic syndrome
Nablus mask-like facial syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Naegeli syndrome
Nager syndrome
Naguib-Richieri-Costa syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail-patella syndrome
Najjar syndrome
Nakamura-Osame syndrome
Nance-Horan syndrome
Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
NAO syndrome
NARP syndrome
Nasodigitoacoustic syndrome
Nasopalpebral lipoma-coloboma syndrome
Nathalie syndrome
Navajo brainstem syndrome
Nelson syndrome
Neonatal antiphospholipid antibody syndrome
Neonatal antiphospholipid syndrome
Neonatal compartment syndrome
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neonatal epilepsy syndrome
Neonatal Hughes syndrome
Neonatal ichthyosis-sclerosing cholangitis syndrome
Neonatal Marfan syndrome
Neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome
Neonatal progeroid syndrome
Neonatal respiratory distress syndrome
Neonatal Schwartz-Jampel syndrome
Neonatal Volkmann ischemic contracture syndrome
Neoplastic hypereosinophilic syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
Nephrogenic syndrome of inappropriate antidiuresis
Nephronophthisis-hepatic fibrosis syndrome
Nephropathy-deafness-hyperparathyroidism syndrome
Nephropathy-hearing loss-hyperparathyroidism syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome
Nephrosis-hearing loss-urinary tract-digital malformations syndrome
Nephrosis-neuronal dysmigration syndrome
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
Nephrotic syndrome without extrarenal manifestations
Nestor-Guillermo progeria syndrome
Netherton syndrome
Neuhauser-Daly-Magnelli syndrome
Neuhauser-Eichner-Opitz syndrome
Neuhäuser syndrome
Neu-Laxova syndrome
Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
Neu-laxova syndrome due to phosphoserine aminotransferase deficiency
Neurocutaneous syndrome, Bicknell type
Neurocutaneous syndrome with epilepsy
Neurodegenerative syndrome due to cerebral folate transport deficiency
Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
  due to 9q21.3 microdeletion
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
  due to a point mutation
Neuroectodermal syndrome, Zunich type
Neurofaciodigitorenal syndrome
Neurofibromatosis 1-like syndrome
Neurofibromatosis-Noonan syndrome
Neurofibromatosis type 1 microdeletion syndrome
Neurofibromatosis type 1-Noonan syndrome
Neurogenic cervical rib syndrome
Neurogenic costoclavicular syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neurogenic scapuloperoneal syndrome, Kaeser type
Neurogenic thoracic outlet compression syndrome
Neurogenic thoracic outlet syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
Neuroleptic malignant syndrome
Neurologic Waardenburg-Shah syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
Neutropenia-monocytopenia-deafness syndrome
Neutropenia-monocytopenia-hearing loss syndrome
Neutrophil immunodeficiency syndrome
NEVADA syndrome
Nevoid basal cell carcinoma syndrome
Nevus comedonicus syndrome
Nevus sebaceus syndrome
Nezelof syndrome
NF1-like syndrome
NF1 microdeletion syndrome
NFJ syndrome
Nicolaides-Baraitser syndrome
Nievergelt syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Niikawa-Kuroki syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
NISCH syndrome
Nivelon-Nivelon-Mabille syndrome
NLRC4-related autoinflammatory syndrome with macrophage activation syndrome
NLRC4-related autoinflammatory syndrome with MAS
NLRC4-related familial cold autoinflammatory syndrome
NLRC4-related infantile enterocolitis-autoinflammatory syndrome
NLRC4-related macrophage activation syndrome
NLRP12-associated hereditary periodic fever syndrome
Noble-Bass-Sherman syndrome
Nodulosis-arthropathy-osteolysis syndrome
NOMID syndrome
Non-24-hour sleep-wake syndrome
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Non-inflammatory generalized peeling skin syndrome type A.
Non-inflammatory peeling skin syndrome type A
Non-insulinoma pancreatogenous hypoglycemia syndrome
Nonmosaic Legius syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Noonan syndrome-like disorder with JMML
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome with multiple lentigines
Nova syndrome
NPHP3-related Meckel-like syndrome
N syndrome
Oberklaid-Danks syndrome
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Obrinsky syndrome
Occipital atretic cephalocele-unusual facies-large feet syndrome
Occipital horn syndrome
Ochoa syndrome
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Oculoauricular syndrome, Schorderet type
Oculoauriculofrontonasal syndrome
Oculocerebral hypopigmentation syndrome, Cross type
Oculocerebral hypopigmentation syndrome, Preus type
Oculocerebrocutaneous syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculocerebrorenal syndrome of Lowe
Oculodental syndrome, Rutherfurd type
Oculo-digito-esophageal-duodenal syndrome
Oculo-digito-esophageal-duodenal syndrome type 1
Oculoectodermal syndrome
Oculofaciocardiodental syndrome
Oculogastrointestinal-neurodevelopmental syndrome
Oculomandibulofacial syndrome
Oculoosteocutaneous syndrome
Oculootodental syndrome
Oculo-oto-radial syndrome
Oculo-palato-cerebral syndrome
Oculorenocerebellar syndrome
Oculoskeletodental syndrome
Oculo-skeleto-dental syndrome
Oculotrichoanal syndrome
ODDD syndrome
ODED syndrome
ODED syndrome type 1
O'Doherty syndrome
O'Donnell-Pappas syndrome
Odontomatosis-aortae esophagus stenosis syndrome
Odonto-onycho dysplasia-alopecia syndrome
Odontotrichomelic syndrome
Odonto-tricho-ungual-digito-palmar syndrome
Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
OFCD syndrome
OFC syndrome
Ogden syndrome
OGIN Syndrome
Oguchi syndrome
Ohaha syndrome
Ohdo-Madokoro-Sonoda syndrome
Ohdo syndrome
Ohtahara syndrome
OHVIRA syndrome
Okamoto syndrome
Okihiro syndrome
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Okihiro syndrome due to del(20)(q13)
Okihiro syndrome due to monosomy 20q13
Oligocone syndrome
Oligodontia-cancer predisposition syndrome
Oligophrenin-1 syndrome
Oliver-McFarlane syndrome
Oliver syndrome
Olivopontocerebellar atrophy-deafness syndrome
Olivopontocerebellar atrophy-hearing loss syndrome
Olmsted syndrome
OMA syndrome
Omenn syndrome
OMM syndrome
Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Omphalocele syndrome, Shprintzen-Goldberg type
Onat syndrome
Ondine-Hirschsprung syndrome
Ondine syndrome
Onycho-digito-mammary syndrome
OPD II syndrome
OPD I syndrome
OPD syndrome 1
OPD syndrome 2
OPHN1 syndrome
Ophthalmoacromelic syndrome
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Opitz BBBG syndrome
Opitz BBB/G syndrome
Opitz-Caltabiano syndrome
Opitz-Frias syndrome
Opitz GBBB syndrome
Opitz G/BBB syndrome
Opitz-Kaveggia syndrome
Opitz trigonocephaly C syndrome
Opitz trigonocephaly-like syndrome
Opitz trigonocephaly syndrome
Opsoclonus-myoclonus-ataxia syndrome
Opsoclonus-myoclonus syndrome
Optic ataxia-gaze apraxia-simultanagnosia syndrome
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
Optic atrophy-intellectual disability syndrome
Optic nerve edema-splenomegaly syndrome
Oral-facial-digital syndrome
Oral-facial-digital syndrome, Edwards type
Oral-facial-digital syndrome, Gabrielli type
Oral-facial-digital syndrome type 1
Oral-facial-digital syndrome type 10
Oral-facial-digital syndrome type 11
Oral-facial-digital syndrome type 12
Oral-facial-digital syndrome type 13
Oral-facial-digital syndrome type 14
Oral-facial-digital syndrome type 18
Oral-facial-digital syndrome type 2
Oral-facial-digital syndrome type 3
Oral-facial-digital syndrome type 4
Oral-facial-digital syndrome type 5
Oral-facial-digital syndrome type 6
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome type 9
Oral-facial-digital syndrome with retinal abnormalities
Oral-facial-digital syndrome with short stature and brachymesophalangy
ORC syndrome
Organoid nevus syndrome
Oroacral syndrome
Orocraniodigital syndrome
Orofacial clefting syndrome
Orofaciodigital syndrome
Orofaciodigital syndrome, Edwards type
Orofaciodigital syndrome, Gabrielli type
Orofaciodigital syndrome, Thurston type
Orofaciodigital syndrome type 1
Orofaciodigital syndrome type 10
Orofaciodigital syndrome type 11
Orofaciodigital syndrome type 12
Orofaciodigital syndrome type 13
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 18
Orofaciodigital syndrome type 2
Orofaciodigital syndrome type 3
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 5
Orofaciodigital syndrome type 6
Orofaciodigital syndrome type 8
Orofaciodigital syndrome type 9
Orofaciodigital syndrome with fibular aplasia
Orofaciodigital syndrome with retinal abnormalities
Oromandibular-limb anomalies syndrome
Oromandibular-limb hypogenesis syndrome
Osebold-Remondini syndrome
OSLAM syndrome
Ossification anomalies-psychomotor developmental delay syndrome
Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome
Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome
Osteocraniosplenic syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Osteopathia striata-cranial sclerosis syndrome
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Osteopenia-intellectual disability-sparse hair syndrome
Osteopetrosis-hypogammaglobulinemia syndrome
Osteopoikilosis-short stature-intellectual disability syndrome
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Osteoporosis-oculocutaneous hypopigmentation syndrome
Osteoporosis-pseudoglioma syndrome
Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Ostravik-Lindemann-Solberg syndrome
O'Sullivan-McLeod syndrome
Other immunodeficiency syndromes due to defects in innate immunity
Other immunodeficiency syndrome with predominantly antibody defects
Other syndrome with a central nervous system malformation as a major feature
Other syndrome with lissencephaly as a major feature
Otodental syndrome
Otofaciocervical syndrome
Otomandibular dysplasia associated with monogenic syndromes
Otoonychoperoneal syndrome
Otopalatodigital syndrome spectrum disorder
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
OTUDP syndrome
OTULIN-related autoinflammatory syndrome
Ouvrier-Billson syndrome
Ovarian hyperstimulation syndrome
Overgrowth-macrocephaly-facial dysmorphism syndrome
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Overgrowth/obesity syndrome
Overgrowth or tall stature syndrome with skeletal involvement
Overgrowth syndrome
Overgrowth syndrome with 2q37 translocation
Pachygyria-intellectual disability-epilepsy syndrome
PACS1-related syndrome
PADDAS syndrome
Pagetoid neuroskeletal syndrome
PAGOD syndrome
Pagon-Bird-Detter syndrome
Painful bladder syndrome
Painful bruising syndrome
Painful legs and moving toes syndrome
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Pai syndrome
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatodigital syndrome, Catel-Manzke type
Pallidopyramidal syndrome
Pallister-Hall syndrome
Pallister-Killian syndrome
Pallister ulnar-mammary syndrome
Pallister-W syndrome
Palmer-Pagon syndrome
Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-sclerodactyly syndrome
Palmoplantar hyperkeratosis-spastic paralysis syndrome
Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome
Palmoplantar keratoderma-clinodactyly syndrome
Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar keratoderma-deafness syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratoderma-hearing loss syndrome
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-sclerodactyly syndrome
Palmoplantar keratoderma-spastic paralysis syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
PAMI syndrome
Panayiotopoulos syndrome
Pancreatic agenesis-holoprosencephaly syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
Pancytopenia-developmental delay syndrome
PAPASH syndrome
PAPA syndrome
Papillon-Léage-Psaume syndrome
Papillon-Lefèvre syndrome
Papillo-renal syndrome
Papular epidermal nevi with skyline basal cell layers syndrome
Paraganglioma-somatostatinoma-polycythemia syndrome
Parana hard skin syndrome
Paraneoplastic Cushing syndrome
Paraneoplastic neurologic syndrome
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
Paraparetic variant of Guillain-Barré syndrome
Paraplegia-intellectual disability-hyperkeratosis syndrome
PARC syndrome
Parkes Weber syndrome
Parkinsonian-pyramidal syndrome
Parry-Romberg syndrome
Partial albinism-immunodeficiency syndrome
Partial androgen insensitivity syndrome
Partial androgen resistance syndrome
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Partington-Mulley syndrome
Partington syndrome
Pascual-Castroviejo syndrome type 1
Pascual-Castroviejo syndrome type 2
Pashayan-Pruzansky syndrome
Pashayan syndrome
PASS syndrome
Passwell-Goodman-Siprkowski syndrome
Patau syndrome
Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Paternal 20q13.2q13.3 microdeletion syndrome
Patterson pseudoleprechaunism syndrome
Patterson-Stevenson-Fontaine syndrome
Patterson-Stevenson syndrome
Patterson syndrome
PBC/PSC and AIH overlap syndrome
PCB variant of Guillain-Barré syndrome
PCNA-related progressive neurodegenerative photosensitivity syndrome
PDAC syndrome
PDE4D haploinsufficiency syndrome
Pearson syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Peeling skin syndrome
Peeling skin syndrome 1
Peeling skin syndrome 2
Peeling skin syndrome type A
Peeling skin syndrome type B
Peeling skin syndrome type C
PEHO-like syndrome
PEHO syndrome
Pelizaeus-Merzbacher disease, null syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
PELVIS syndrome
Pena-Shokeir syndrome type 1
Pena-Shokeir syndrome type 2
Pendred syndrome
PENS syndrome
PEO-myopathy-emaciation syndrome
PEP syndrome
PERCHING syndrome
Pericarditis-arthropathy-camptodactyly syndrome
Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal
  abnormalities-imperforate anus-skin tag syndrome
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodic fever syndrome
Periodic fever syndrome of childhood
Periodic paralysis with transient compartment-like syndrome
Periodontal Ehlers-Danlos syndrome
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg
  syndrome-Hirschsprung disease
Peripheral motor neuropathy-dysautonomia syndrome
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Perlman syndrome
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Perniola-Krajewska-Carnevale syndrome
Perrault syndrome
Perry syndrome
Persistent fetal vasculature syndrome
Persistent Müllerian duct syndrome
Peters plus syndrome
Petit-Fryns syndrome
Pettigrew Syndrome
Petty-Laxova-Wiedemann syndrome
Petty syndrome
Peutz-Jeghers syndrome
PFAPA syndrome
Pfeiffer-Kapferer syndrome
Pfeiffer-Mayer syndrome
Pfeiffer-Palm-Teller syndrome
Pfeiffer-Singer-Zschiesche syndrome
Pfeiffer syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Pfeiffer-Weber-Christian syndrome
PHACES syndrome
PHACE syndrome
Phalangeal microgeodic syndrome
PHARC syndrome
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Pharyngo-cervico-brachial variant of Guillain-Barré syndrome
PHAVER syndrome
PHD syndrome
Phelan-McDermid syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome
Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
Piccardi-Lassueur-Little syndrome
Piebald trait-neurologic defects syndrome
Pierpont syndrome
Pierquin syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin sequence-faciodigital anomaly syndrome
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Pierre Robin sequence-oligodactyly syndrome
Pierre Robin syndrome associated with a chromosomal anomaly
Pierre Robin syndrome associated with bone disease
Pierre Robin syndrome associated with branchial archs anomalies
Pierre Robin syndrome associated with collagen disease
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Pierre Robin syndrome-faciodigital anomaly syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
Pierson syndrome
Pigment anomaly-ectrodactyly-hypodontia syndrome
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
PIK3CA-related overgrowth syndrome
Pilarowski-Bjornsson syndrome
Pili torti-developmental delay-neurological abnormalities syndrome
Pili torti-onychodysplasia syndrome
Pillay syndrome
Pilodental dysplasia-refractive errors syndrome
Pinheiro-Freire Maia-Miranda syndrome
Pitt-Hopkins syndrome
Pituitary deficiency due to empty sella turcica syndrome
Pituitary-dependent Cushing syndrome
Pituitary stalk interruption syndrome
Piussan-Lenaerts-Mathieu syndrome
PLACK syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
Platyspondyly-amelogenesis imperfecta syndrome
Pleuropulmonary blastoma familial tumor and dysplasia syndrome
PLMT syndrome
Plott syndrome
PLP1 null syndrome
Plummer-Vinson syndrome
PMP22-RAI1 contiguous gene duplication syndrome
PMSE syndrome
POEMS syndrome
Poikiloderma-alopecia-retrognathism-cleft palate syndrome
POIKTMP syndrome
Poland syndrome
Polyclonal hyperviscosity syndrome
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Polydactyly-myopia syndrome
Polyendocrine-polyneuropathy syndrome
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Polymalformative genetic syndrome with increased risk of developing cancer
Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome
Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
Polyneuropathy-hand defect syndrome
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Polysyndactyly-cardiac malformation syndrome
Polyvalvular heart disease syndrome
POMA syndrome
Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome
Popliteal pterygium syndrome
Popliteal web syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Poretti-Boltshauser syndrome
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Posner-Schlossman syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Postaxial polydactyly-dental and vertebral anomalies syndrome
Postaxial polydactyly-intellectual disability syndrome
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Postorgasmic illness syndrome
Postpoliomyelitic syndrome
Postpoliomyelitis syndrome
Postpolio syndrome
Postsynaptic congenital myasthenic syndromes
Postural orthostatic tachycardia syndrome due to NET deficiency
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Potter sequence-cleft lip/palate-cardiopathy syndrome
Powell-Chandra-Saal syndrome
Powell-Venencie-Gordon syndrome
PPB familial tumor and dysplasia syndrome
PPK-deafness syndrome
Prader-Labhart-Willi syndrome
Prader-Willi habitus-osteopenia-camptodactyly syndrome
Prader-Willi-like syndrome
Prader-Willi-like syndrome due to microdeletion 6q16
Prader-Willi syndrome
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal 15q11q13 deletion
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prata-Liberal-Goncalves syndrome
Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
Premature aging syndrome, Penttinen type
Presynaptic congenital myasthenic syndromes
Prieto-Badia-Mulas syndrome
Prieur-Griscelli syndrome
Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Primary Fanconi renal syndrome
Primary Fanconi renotubular syndrome
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Primary hypereosinophilic syndrome
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Primary immunodeficiency syndrome due to LAMTOR2 deficiency
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome with short stature
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Primary short bowel syndrome
Primary Sjögren-Gougerot syndrome
Primary Sjögren syndrome
Primary tethered cord syndrome
Primary tethered spinal cord syndrome
Primitive renal tubule syndrome
Primrose syndrome
Progeria-short stature-pigmented nevi syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
Progeroid syndrome
Progeroid syndrome, De Barsy type
Progeroid syndrome, Petty type
Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
Progressive autosomal recessive ataxia-deafness syndrome
Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome
Progressive encephalopathy-optic atrophy syndrome
Progressive epilepsy-intellectual disability syndrome, Finnish type
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual
  disability-abnormal behavior syndrome
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome
Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth
  metatarsals-intellectual disability syndrome
Progressive supranuclear palsy-apraxia of speech syndrome
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-parkinsonism syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Prominent glabella-microcephaly-hypogenitalism syndrome
Proteasome-associated autoinflammatory syndrome
Proteasome disability syndrome
Proteus-like syndrome
Proteus syndrome
Proud-Levine-Carpenter syndrome
Proud syndrome
Proximal 11p deletion syndrome
Proximal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microduplication syndrome
Proximal Xq28 duplication syndrome
PRUNE1-related neurological syndrome
Prune belly syndrome
PsAPASH syndrome
Pseudoaminopterin syndrome
Pseudo-Angelman syndrome
Pseudo-Demons-Meigs syndrome
Pseudoleprechaunism syndrome, Patterson type
Pseudo-Meigs syndrome
Pseudo-Morquio syndrome type 2
Pseudopapilledema-blepharophimosis-hand anomalies syndrome
Pseudoprogeria syndrome
Pseudothalidomide syndrome
Pseudo-TORCH syndrome
Pseudo-trisomy 13 syndrome
Pseudoxanthoma elasticum-like syndrome
Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
PSP-corticobasal syndrome
PSP syndrome
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
PTC syndrome
PTEN hamartoma tumor syndrome
Pterygium colli-intellectual disability-digital anomalies syndrome
Ptosis-strabismus-ectopic pupils syndrome
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Ptosis-vocal cord paralysis syndrome
Pudendal nerve entrapment syndrome
Pulmonary atresia-intact ventricular septum syndrome
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
PUM1-associated developmental disability-ataxia-seizure syndrome
Punch-drunk syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Pure cerebellar syndrome-mild pyramidal signs syndrome
Pure Joubert syndrome
Puretic syndrome
Purtilo syndrome
PXE-like syndrome
PXE-like syndrome with retinitis pigmentosa
PYCR1-related De Barsy syndrome
Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Pyogenic autoinflammatory syndrome
Pyogenic autoinflammatory syndrome of childhood
Pyramidal molars-abnormal upper lip syndrome
Qazi-Markouizos syndrome
QRICH1-related intellectual disability-chondrodysplasia syndrome
Quantal squander syndrome
Quaternary A syndrome
Question mark ear syndrome
r(11) syndrome
r(1) syndrome
r(22) syndrome
r(4) syndrome
r(8) syndrome
Rabson-Mendenhall syndrome
Radial deficiency-tibial hypoplasia syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Radial ray hypoplasia-choanal atresia syndrome
Radio-renal syndrome
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Raine syndrome
Rajab-Spranger syndrome
Rambam-Hasharon syndrome
Rambaud-Gallian syndrome
Rambaud-Gallian-Touchard syndrome
Ramon syndrome
Ramos-Arroyo syndrome
Ramsay Hunt syndrome
RAPADILINO syndrome
Rapidely progressive cerebellar syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic
   dysregulation-neural tumors syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Rare disease with Cushing syndrome as a major feature
Rare disease with Pierre Robin syndrome
Rare endogenous Cushing syndrome
Rare insulin-resistance syndrome
Rare parkinsonian syndrome due to genetic neurodegenerative disease
Rare parkinsonian syndrome due to intoxication
Rare parkinsonian syndrome due to neurodegenerative disease
Rare syndrome with cardiac malformations
Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
Rasmussen-Johnsen-Thomsen syndrome
Rasmussen syndrome
Ravine syndrome
Raynaud-Claes syndrome
Ray-Peterson-Scott syndrome
RCAD syndrome
Reactive hemophagocytic syndrome
Reactive hypereosinophilic syndrome
Reardon-Baraitser syndrome
Reardon-Hall-Slaney syndrome
REAR syndrome
Rec8 syndrome
Rec(8) syndrome
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Recessive mitochondrial ataxia syndrome
Recombinant 8 syndrome
Recombinant chromosome 8 syndrome
Rectus abdominis syndrome
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac
  arrhythmia-intellectual disability syndrome
Reed syndrome
Reginato-Schiapachasse syndrome
Regional variant of Guillain-Barré syndrome
Reinhardt-Pfeiffer syndrome
Renal caliceal diverticuli-deafness syndrome
Renal caliceal diverticuli-hearing loss syndrome
Renal coloboma syndrome
Renal cysts and diabetes syndrome
Renal dysfunction-early-onset diabetes syndrome
Renal dysplasia-limb defects syndrome
Renal dysplasia-mesomelia-radiohumeral fusion syndrome
Renal dysplasia-retinal aplasia syndrome
Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
Renal-ear-anal-radial syndrome
Renal Fanconi syndrome with nephrocalcinosis and renal stones
Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
Renal nutcracker syndrome
Renal tubulopathy-encephalopathy-liver failure syndrome
Renpenning syndrome
RERE-related neurodevelopmental syndrome
Resistance to thyrotropin-releasing hormone syndrome
Respiratory bronchiolitis-interstitial lung disease syndrome
Retinal degeneration-nanophthalmos-glaucoma syndrome
Retinal detachment-occipital encephalocele syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-hearing loss syndrome
Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
Retinopathy-anemia-central nervous system anomalies syndrome
Rett syndrome
Rett syndrome variant
Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
Reversible cerebral vasoconstriction syndrome
Revesz-DeBuse syndrome
Revesz syndrome
Reye syndrome
Reynolds syndrome
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
Rh deficiency syndrome
Rhizomelic syndrome, Urbach type
Rh-null syndrome
RHYNS syndrome
Richardson-Kirk syndrome
Richardson syndrome
Richards-Rundle syndrome
Richieri-Costa-Colletto syndrome
Richieri Costa-da Silva syndrome
Richieri-Costa-Gorlin syndrome
Richieri Costa-Guion Almeida-Ramos syndrome
Richieri Costa-Pereira syndrome
Richner-Hanhart syndrome
Ricker syndrome
RIDDLE syndrome
Rieger anomaly-partial lipodystrophy syndrome
Rieger syndrome
Rigid spine syndrome
Riley-Day syndrome
RIN2 syndrome
Ring chromosome 10 syndrome
Ring chromosome 11 syndrome
Ring chromosome 12 syndrome
Ring chromosome 13 syndrome
Ring chromosome 14 syndrome
Ring chromosome 15 syndrome
Ring chromosome 16 syndrome
Ring chromosome 17 syndrome
Ring chromosome 18 syndrome
Ring chromosome 19 syndrome
Ring chromosome 1 syndrome
Ring chromosome 20 syndrome
Ring chromosome 21 syndrome
Ring chromosome 22 syndrome
Ring chromosome 2 syndrome
Ring chromosome 3 syndrome
Ring chromosome 4 syndrome
Ring chromosome 5 syndrome
Ring chromosome 6 syndrome
Ring chromosome 7 syndrome
Ring chromosome 8 syndrome
Ring chromosome 9 syndrome
Ring chromosome Y syndrome
Ring dermoid syndrome
Ritscher-Schinzel syndrome
Rivera-Perez-Salas syndrome
Roberts-SC phocomelia syndrome
Roberts syndrome
Robinow-Silverman-Smith syndrome
Robinow syndrome
Robinow-Unger syndrome
Robin sequence-oligodactyly syndrome
Rogers syndrome
Roifman-Chitayat syndrome
Roifman syndrome
Rokitansky syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy-speech dyspraxia syndrome
Romano-Ward long QT syndrome
Romano-Ward syndrome
Romberg syndrome
Rombo syndrome
ROSAH syndrome
Rosenberg-Lohr syndrome
Rosenthal syndrome
Rothmund-Thomson syndrome
Rothmund-Thomson syndrome type 1
Rothmund-Thomson syndrome type 2
Rotor syndrome
Round-headed sperm syndrome
Roussy-Lévy syndrome
Rozin camptodactyly syndrome
RSH syndrome
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rudd-Klimek syndrome
Ruijs-Aalfs syndrome
Russell syndrome
Russell-Weaver-Bull syndrome
Rutherfurd syndrome
Ruvalcaba syndrome
Sack-Barabas syndrome
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Sacral meningocele-conotruncal heart defects syndrome
SACRAL syndrome
Saethre-Chotzen syndrome
Sagliker syndrome
Saito-Kuba-Tsuruta syndrome
Salcedo syndrome
Saldino-Mainzer syndrome
Salti-Salem syndrome
SAMD9L-associated autoinflammatory syndrome
SAMS syndrome
SAM syndrome
Sandifer syndrome
Sandrow syndrome
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sanfilippo syndrome type D
Sanjad-Sakati syndrome
San Luis Valley syndrome
Santos-Mateus-Leal syndrome
SAPHO syndrome
SATB2-associated syndrome
SATB2-associated syndrome due to a chromosomal rearrangement
SATB2-associated syndrome due to a pathogenic variant
SATB2-associated syndrome due to a point mutation
Satoyoshi syndrome
Say-Barber-Biesecker-Young-Simpson syndrome
Say-Barber-Hobbs syndrome
Say-Barber-Miller syndrome
Say-Meyer syndrome
SBBYS variant of Ohdo syndrome
Scalp defects-postaxial polydactyly syndrome
Scalp-ear-nipple syndrome
SCALP syndrome
Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
SCARF syndrome
SCD syndrome
Schaaf-Yang syndrome
Schaap-Taylor-Baraitser syndrome
Schauder syndrome
Scheie syndrome
Schilbach-Rott syndrome
Schimke syndrome
Schimmelpenning syndrome
Schinzel-Giedion syndrome
Schinzel syndrome
Schmidt syndrome
Schmitt-Gillenwater-Kelly syndrome
Schnitzler syndrome
Scholte-Begeer-van Essen syndrome
Schöpf-Schulz-Passarge syndrome
Schuurs-Hoeijmakers syndrome
Schwartz-Jampel-Aberfeld syndrome
Schwartz-Jampel syndrome
Schwartz-Jampel syndrome type 1
Schwartz-Jampel syndrome type 2
Scimitar syndrome
Scleroatrophic syndrome
Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome
Scott-Bryant-Graham syndrome
Scott craniodigital syndrome
Scott syndrome
Scott-Taor syndrome
SC pseudothalidomide syndrome
Seaver-Cassidy syndrome
Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal
  dermoid-pigmented nevus syndrome
Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
Seckel syndrome
Secondary hypereosinophilic syndrome
Secondary short bowel syndrome
Secondary steroid-resistant nephrotic syndrome
Sedlackova syndrome
Seemanova-Lesny syndrome
Seemanova syndrome type 2
Seghers syndrome
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Seizures-intellectual disability due to hydroxylysinuria syndrome
Seizures-scoliosis-macrocephaly syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
Sellars-Beighton syndrome
Semicircular canal dehiscence syndrome
Senear-Usher syndrome
Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
Sengers-Hamel-Otten syndrome
Sengers syndrome
Senior-Boichis syndrome
Senior-Loken syndrome
Senior syndrome
Sensenbrenner syndrome
Sensorineural deafness-early graying-essential tremor syndrome
Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
Sensorineural hearing loss-early graying-essential tremor syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Senter syndrome
SERKAL syndrome
Serotonergic syndrome
Serotonin syndrome
Serpentine-like syndrome
Serrated polyposis syndrome
Servelle-Martorell syndrome
SeSAME syndrome
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
SETD2-related overgrowth syndrome
Setleis syndrome
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Severe acute respiratory syndrome
Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Severe Hallermann-Streiff-François syndrome
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Severe intellectual disability-progressive spastic diplegia syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
Severe myopia-generalized joint laxity-short stature syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Severe neurodegenerative syndrome due to BSCL2 deficiency
Severe neurodegenerative syndrome with lipodystrophy
Severe oculo-renal-cerebellar syndrome
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
Sézary syndrome
SGFLD syndrome
Shabbir syndrome
Shaheen syndrome
Shah-Waardenburg syndrome
Shapiro syndrome
Sharma-Kapoor-Ramji syndrome
Sharp syndrome
Sheehan syndrome
Sheldon-Hall syndrome
SHFLD syndrome
Shiga toxin-associated hemolytic uremic syndrome
SHILCA syndrome
Shokeir syndrome
Short bowel syndrome
Short fifth metacarpals-insulin resistance syndrome
Short rib-polydactyly syndrome
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Saldino-Noonan type
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome type 4
Short rib-polydactyly syndrome type 5
Short rib-polydactyly syndrome, Verma-Naumoff type
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Short stature-brachydactyly-obesity-global developmental delay syndrome
Short stature-craniofacial anomalies-genital hypoplasia syndrome
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Short stature-developmental delay-congenital heart defect syndrome
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome
Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome
Short stature-locking fingers syndrome
Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Short stature-valvular heart disease-characteristic facies syndrome
Short stature-webbed neck-heart disease syndrome
Short stature-wormian bones-dextrocardia syndrome
SHORT syndrome
Short tarsus-absence of lower eyelashes syndrome
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Shprintzen-Goldberg syndrome
Shprintzen syndrome
Shulman syndrome
Shwachman-Bodian-Diamond syndrome
Shwachman-Diamond syndrome
Shwachman syndrome
Sickle cell-beta-thalassemia disease syndrome
Sickle cell-hemoglobin C disease syndrome
Sickle cell-hemoglobin D disease syndrome
Sickle cell-hemoglobin E disease syndrome
Siegler-Brewer-Carey syndrome
SIFD syndrome
Silent sinus syndrome
Sillence syndrome
Silver-Russell syndrome
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to 7p11.2-p13 microduplication
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to a point mutation
Silver-Russell syndrome due to dup(7)(p11.2p13)
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Silver-Russell syndrome due to trisomy 7p11.2p13
Silver-Russell syndrome due to trisomy 7p11.2-p13
Silver syndrome
SIM1-related Prader-Willi-like syndrome
Simosa craniofacial syndrome
Simosa-Penchaszadeh-Bustos syndrome
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome type 1
SIN3A-related intellectual disability syndrome
SIN3A-related intellectual disability syndrome due to a point mutation
Singh-Williams-McAlister syndrome
Singleton-Merten syndrome
SINO syndrome
Sinusoidal obstruction syndrome
Sipple syndrome
Sjögren-Larsson syndrome
SJS/TEN overlap syndrome
Skeletal dysplasia-brachydactyly syndrome
Skeletal dysplasia-epilepsy-short stature syndrome
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skraban-Deardorff syndrome
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual
   disability-sensorineural deafness syndrome
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual
  disability-feeding difficulty-sensorineural deafness syndrome
SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Small patella syndrome
SMARCA2-related blepharophimosis-intellectual disability syndrome
SMD-corneal dystrophy syndrome
Smith-Kingsmore syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sneddon syndrome
Snijders Blok-Campeau syndrome
Snyder-Robinson syndrome
SOCS1-related autoinflammatory syndrome
SOFT syndrome
Sohval-Soffer syndrome
SOLAMEN syndrome
Solitary rectal ulcer syndrome
Solomon syndrome
Sommer-Hines syndrome
Sommer-Rathbun-Battles syndrome
Sommer-Young-Wee-Frye syndrome
Sonoda syndrome
SOPH syndrome
Sorsby syndrome
Sotos syndrome
Sotos syndrome 2
SOX5 haploinsufficiency syndrome
Sparse hair-short stature-skin anomalies syndrome
Spastic ataxia-corneal dystrophy syndrome
Spastic ataxia-ocular anomalies syndrome
Spasticity-ataxia-gait anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Spastic paraparesis-cataracts-speech delay syndrome
Spastic paraparesis-deafness syndrome
Spastic paraparesis-hearing loss syndrome
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
Spastic paraplegia-facial-cutaneous lesions syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
Spastic paraplegia-nephritis-deafness syndrome
Spastic paraplegia-nephritis-hearing loss syndrome
Spastic paraplegia-neuropathy-poikiloderma syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spastic paraplegia-Paget disease of bone syndrome
Spastic paraplegia-precocious puberty syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
Spastic paraplegia-retinal degeneration syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spear syndrome
SPECC1L-related hypertelorism syndrome
Spherophakia-brachymorphia syndrome
Spigelian hernia-cryptorchidism syndrome
Spina bifida-hypospadias syndrome
Spinal arteriovenous metameric syndrome
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinocerebellar ataxia-amyotrophy-deafness syndrome
Spinocerebellar ataxia-amyotrophy-hearing loss syndrome
Spinocerebellar ataxia-dysmorphism syndrome
Spinocerebellar degeneration-corneal dystrophy syndrome
Spitzer-Weinstein syndrome
Splenogonadal fusion-limb defects-micrognathia syndrome
Splenomegaly-neutropenia-rheumatoid arthritis syndrome
Split foot deformity-mandibulofacial dysostosis syndrome
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
Split hand-split foot-deafness syndrome
Split hand-split foot-hearing loss syndrome
Split hand/split foot-mandibular hypoplasia syndrome
Split hand/split foot-nystagmus syndrome
Split hand-urinary anomalies-spina bifida syndrome
Split notochord syndrome
Spondylocamptodactyly syndrome
Spondylocheirodysplastic Ehlers-Danlos syndrome
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual
  disability-Leber congenital amaurosis syndrome
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Spondylo-ocular syndrome
Spondyloperipheral dysplasia-short ulna syndrome
SPPRS syndrome
Sprinz-Nelson syndrome
SSM syndrome
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Staphylococcal scalded skin syndrome
Staphylococcal toxic-shock syndrome
Stark-Kaeser syndrome
STAR syndrome
Steatocystoma multiplex-natal teeth syndrome
Steel syndrome
Steinfeld syndrome
Stern-Lubinsky-Durrie syndrome
Steroid dehydrogenase deficiency-dental anomalies syndrome
Stevens-Johnson syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Stevens-Johnson/TEN overlap syndrome
Stevens-Johnson/toxic epidermal necrolysis overlap syndrome
Stickler syndrome
Stickler syndrome, non-ocular type
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome type 3
Stiff baby syndrome
Stiff leg syndrome
Stiff man syndrome
Stiff skin syndrome
Stilling-Turk-Duane syndrome
Stimmler syndrome
Stoelinga-de Koomen-Davis syndrome
Stoll-Alembik-Finck syndrome
Stoll-Géraudel-Chauvin syndrome
Stoll-Kieny-Dott syndrome
Stoll-Lévy-Francfort syndrome
Stone man syndrome
Stormorken-Sjaastad-Langslet syndrome
Stormorken syndrome
Stratton-Garcia-Young syndrome
Stratton-Parker syndrome
Streptococcal toxic-shock syndrome
Streptococcus pneumoniae-associated hemolytic uremic syndrome
Stromme syndrome
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe syndrome
Sturge-Weber syndrome
Stüve-Wiedemann syndrome
Suarez-Stickler syndrome
Subaortic stenosis-short stature syndrome
Sudden infant death-dysgenesis of the testes syndrome
Sugarman-Hager-Kulik syndrome
Sugarman syndrome
Sujansky-Leonard syndrome
Summerskill-Walshe-Tygstrup syndrome
Summitt syndrome
SUNCT syndrome
Superior mesenteric artery syndrome
Supernumerary der(22) syndrome
Susac syndrome
Sweet syndrome
Swyer syndrome
Symphalangism-brachydactyly syndrome
Symptomatic form of Coffin-Lowry syndrome in female carriers
Symptomatic form of fragile X syndrome in female carriers
Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome
Synaptic congenital myasthenic syndromes
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Syndactyly-nystagmus syndrome due to dup(2)(q31.1)
Syndactyly-nystagmus syndrome due to trisomy 2q31.1
Syndactyly-polydactyly-ear lobe syndrome
Syndactyly-preaxial polydactyly-sternal deformity syndrome
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndrome associated with dilated cardiomyopathy
Syndrome associated with hypertrophic cardiomyopathy
Syndrome de Volkmann congénital
Syndrome of ocular and facial anomalies, telecanthus and deafness
Syndrome of ocular and facial anomalies, telecanthus and hearing loss
Syndrome of reduced sensitivity to thyroid hormone
Syndrome or malformation associated with head and neck malformations
Syndrome r(4)
Syndrome with 46,XX disorder of sex development
Syndrome with 46,XX DSD
Syndrome with 46,XY disorder of sex development
Syndrome with 46,XY DSD
Syndrome with a central nervous system malformation as a major feature
Syndrome with a cerebellar malformation as a major feature
Syndrome with a Dandy-Walker malformation as a major feature
Syndrome with alpha-thalassemia as a major feature
Syndrome with a symptomatic strabismus
Syndrome with combined immunodeficiency
Syndrome with corpus callosum agenesis/dysgenesis as a major feature
Syndrome with disorder of sex development of gynecological interest
Syndrome with DSD of gynecological interest
Syndrome with hypoparathyroidism
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Syndrome with limb malformations as a major feature
Syndrome with limb reduction defects
Syndrome with microcephaly as a major feature
Syndrome with pulmonary hypertension as a major feature
Syndrome with synostosis or other joint formation defect
Syndrome with woolly hair
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Syngnathia-cleft palate syndrome
Syngnathia-multiple anomalies syndrome
Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
Systemic capillary leak syndrome
Tabatznik syndrome
TACH syndrome
TAFRO syndrome
Takao syndrome
Takatsuki syndrome
Takenouchi-Kosaki syndrome
Takotsubo syndrome
Tako-Tsubo syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Tall stature-long halluces-multiple extra-epiphyses syndrome
Tall stature-scoliosis-macrodactyly of the halluces syndrome
TANGO2-related metabolic encephalopathy-arrhythmia syndrome
TARP syndrome
Tarsal-carpal coalition syndrome
Tarsal kink syndrome
TAR syndrome
Tatton-Brown-Rahman overgrowth syndrome
Tatton-Brown-Rahman syndrome
Taussig-Bing syndrome
Taybi-Linder syndrome
Taybi syndrome
TBCK-related intellectual disability syndrome
TDO syndrome
Teebi-Al Saleh-Hassoon syndrome
Teebi hypertelorism syndrome
Teebi-Kaurah syndrome
Teebi-Naguib-Alawadi syndrome
Teebi-Shaltout syndrome
Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid
  collections-intrapulmonary shunting syndrome
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Telfer-Sugar-Jaeger syndrome
Tel Hashomer camptodactyly syndrome
Telomeric 15q deletion syndrome
TEMPI syndrome
Temple-Baraitser syndrome
Temple syndrome
Temple syndrome due to maternal uniparental disomy of chromosome 14
Temple syndrome due to paternal 14q32.2 hypomethylation
Temple syndrome due to paternal 14q32.2 microdeletion
Temtamy preaxial brachydactyly syndrome
Temtamy-Shalash syndrome
Temtamy syndrome
Teratogenic Pierre Robin syndrome
Ter Haar syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Testicular feminization syndrome
Testicular regression syndrome
Tetraamelia-multiple malformations syndrome
Teunissen-Cremers syndrome
Thakker-Donnai syndrome
Thanatophoric dwarfism-cloverleaf skull syndrome
Thauvin-Robinet-Faivre syndrome
Theodore syndrome
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Therapy-related AML and myelodysplastic syndrome
Thiamine-responsive megaloblastic anemia syndrome
Thickened earlobes-conductive deafness syndrome
Thickened earlobes-conductive hearing loss syndrome
Thies-Reis syndrome
Thin ribs-tubular bones-dysmorphism syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Thomas-Jewett-Raines syndrome
Thomas syndrome
Thompson-Baraitser syndrome
Thong-Douglas-Ferrante syndrome
Thoracic dysplasia-hydrocephalus syndrome
Thoracic outlet compression syndrome
Thoracic outlet syndrome
Thoraco-abdominal syndrome
Thrombocytopathy-asplenia-miosis syndrome
Thrombocytopenia-absent radius syndrome
Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
Thumb deformity-alopecia-pigmentation anomaly syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome
Thurston syndrome
Thymoma-immunodeficiency syndrome
Thyrocerebrorenal syndrome
Tibial aplasia-ectrodactyly syndrome
Tibial hemimelia-ectrodactyly syndrome
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Tietz syndrome
Timothy syndrome
Timothy syndrome type 1
Timothy syndrome type 2
TINU syndrome
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
TNF receptor 1-associated periodic syndrome
Tolosa-Hunt syndrome
Tonic pupil-tendon areflexia syndrome
Tonoki-Ohura-Niikawa syndrome
Tooth and nail syndrome
Torg-Winchester syndrome
Toriello-Carey syndrome
Toriello-Higgins-Miller syndrome
Toriello-Lacassie-Droste syndrome
Toriello syndrome
Torsade-de-pointes syndrome with short coupling interval
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Touraine-Solente-Gole syndrome
Townes-Brocks syndrome
Townes syndrome
Toxic oil syndrome
Traboulsi syndrome
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Tranebjaerg-Svejgaard syndrome
Transient antenatal Bartter syndrome
Transient left ventricular apical ballooning syndrome
Transient myeloproliferative syndrome
TRAPS syndrome
Treacher-Collins syndrome
Tremor-ataxia-central hypomyelination syndrome
Tremor-nystagmus-duodenal ulcer syndrome
TRH resistance syndrome
Triad syndrome
Triangular tibia-fibular aplasia syndrome
Trichodental syndrome
Tricho-dento-osseous syndrome
Trichodermodysplasia-dental alterations syndrome
Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
Trichodysplasia-amelogenesis imperfecta syndrome
Trichodysplasia-xeroderma syndrome
Trichohepatoenteric syndrome
Tricho-hepato-enteric syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Tricho-retino-dento-digital syndrome
Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome type 1 and 3
Trichorhinophalangeal syndrome type 2
Trigonocephaly-bifid nose-acral anomalies syndrome
Trigonocephaly-broad thumbs syndrome
Trigonocephaly C syndrome
Trigonocephaly-short stature-developmental delay syndrome
Trilineage bone marrow failure-developmental delay syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome
Triple A syndrome
Triple H syndrome
Triple X syndrome
Triplo-X syndrome
Trismus-pseudocamptodactyly syndrome
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
Troyer syndrome
Tsao-Ellingson syndrome
TSC2/PKD1 contiguous gene syndrome
Tsukahara-Kajii syndrome
Tsukahara syndrome
Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
Tubulointerstitial nephritis and uveitis syndrome
Tucker syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
Tungland-Bellman syndrome
Turban tumor syndrome
Turcot syndrome with polyposis
Turner-Kieser syndrome
Turner syndrome
Turner syndrome due to structural X chromosome anomalies
Twin to twin transfusion syndrome
Tylosis-oesophageal carcinoma syndrome
Type 1 syndactyly-microcephaly-intellectual disability syndrome
Typical hemolytic uremic syndrome
Ulbright-Hodes syndrome
Ulick syndrome
Ulna hypoplasia-intellectual disability syndrome
Ulna metaphyseal dysplasia syndrome
Ulnar/fibula ray defect-brachydactyly syndrome
Ulnar hypoplasia-lobster-claw deformity of feet syndrome
Ulnar hypoplasia-split foot syndrome
Ulnar-mammary syndrome
Umbilical cord ulceration-intestinal atresia syndrome
Unclassified autoinflammatory syndrome
Unclassified autoinflammatory syndrome of childhood
Unclassified mixed myelodysplastic/myeloproliferatic syndrome
Unclassified myelodysplastic syndrome
Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
Uncombable hair syndrome
Undifferentiated connective tissue syndrome
Uner Tan syndrome
Unexplained long-lasting fever/inflammatory syndrome
Unexplained periodic fever syndrome
Unexplained periodic fever syndrome of childhood
Upper limb defect-eye and ear abnormalities syndrome
Upshaw-Schulman syndrome
Urban-Rifkin-Davis syndrome
Urban-Rogers-Meyer syndrome
Urban-Schosser-Spohn syndrome
Urioste syndrome
Urofacial syndrome
Urrets-Zavalia syndrome
Usher syndrome
Usher syndrome type 1
Usher syndrome type 2
Usher syndrome type 3
Uveomenigitic syndrome
UV-sensitive syndrome
Van Benthem-Driessen-Hanveld syndrome
Van den Berghe-Dequecker syndrome
Van den Bosch syndrome
Van den Ende-Gupta syndrome
Van der Hoeve syndrome
Van der Knaap syndrome
Van der Woude syndrome
Vanishing testes syndrome
Vanishing testis syndrome
Van Maldergem syndrome
Váradi-Papp syndrome
Váradi syndrome
Variant of Guillain-Barré syndrome
Vascular Ehlers-Danlos-polymicrogyria syndrome
Vascular Ehlers-Danlos syndrome
Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
Velocardiofacial syndrome
Velo-facial-skeletal syndrome
Venous cervical rib syndrome
Venous costoclavicular syndrome
Venous hyperabduction syndrome
Venous scalenus anticus syndrome
Venous thoracic outlet compression syndrome
Venous thoracic outlet syndrome
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Verheij syndrome
Verloes-Bourguignon syndrome
Verloes-David syndrome
Verloes-Deprez syndrome
Verloes-Gillerot-Fryns syndrome
Verloes-Van Maldergem-de Marneffe syndrome
Verloove Vanhorick-Brubakk syndrome
Verner-Morrison syndrome
VEXAS syndrome
Vici syndrome
Viljoen-Kallis-Voges syndrome
Viljoen-Smart syndrome
Virus-associated hemophagocytic syndrome
Visceral myopathy-familial external ophthalmoplegia syndrome
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Visual snow syndrome
VODI syndrome
Vohwinkel syndrome
Vohwinkel syndrome with ichthyosis
Volcke-Soekarman syndrome
Von Hippel-Lindau syndrome
Von Voss-Cherstvoy syndrome
Vulvovaginal gingival syndrome
Waaler-Aarskog syndrome
Waardenburg anophthalmia syndrome
Waardenburg-Hirschsprung syndrome
Waardenburg-Shah syndrome
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Waardenburg syndrome type I
Waardenburg syndrome type II
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Wagenmann-Froboese syndrome
Wagner syndrome
WAGR syndrome
Wahab syndrome
Waisman syndrome
Walker-Dyson syndrome
Walker-Warburg syndrome
Wallis-Zieff-Goldblatt syndrome
Warburg micro syndrome
Warburg-Thomsen syndrome
Warburton-Anyane-Yeboa syndrome
Warkany syndrome
Warman-Mulliken-Hayward syndrome
Warsaw breakage syndrome
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Warts-infections-leukopenia-myelokatexis syndrome
Waterhouse-Friderichsen syndrome
Water-West syndrome
Watery diarrhea-hypokalemia-achlorhydria syndrome
WDHA syndrome
Weary syndrome
Weaver syndrome
Weaver-Williams syndrome
Webster-Deming syndrome
Weill-Marchesani syndrome
Weismann-Netter-Stuhl syndrome
Weismann-Netter syndrome
Wellesley-Carman-French syndrome
Wells-Jankovic syndrome
Wells syndrome
Wermer syndrome
Werner-like syndrome due to combined growth factor deficiency
Werner syndrome
Westerhof-Beemer-Cormane syndrome
West syndrome
WHIM syndrome
Whistling face syndrome
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White platelet syndrome
White-Sutton syndrome
Whyte-Murphy syndrome
Wieacker-Wolff syndrome
Wiedemann-Beckwith syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Wildervanck syndrome
WILD syndrome
Wilkie syndrome
Williams-Beuren syndrome
Williams-Campbell syndrome
Williams syndrome
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
Wilms tumor-disorder of sex development syndrome
Wilms tumor-DSD syndrome
Wilson-Turner syndrome
Winship-Viljoen-Leary syndrome
Wiskott-Aldrich syndrome
Wissler-Fanconi syndrome
Witkop syndrome
Witteveen-Kolk syndrome
WL syndrome
Wolcott-Rallison syndrome
Wolff-Zimmermann syndrome
Wolf-Hirschhorn syndrome
Wolfram-like syndrome
Wolfram syndrome
Woodhouse-Sakati syndrome
Woods-Black-Norbury syndrome
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar hyperkeratosis syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma syndrome
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Worster-Drought syndrome
Worth syndrome
Wrinkled skin syndrome
Wrinkly skin syndrome
W syndrome
WT limb-blood syndrome
Wunderlich syndrome
Wyburn-Mason syndrome
Xeroderma pigmentosum-Cockayne syndrome complex
Xia-Gibbs syndrome
XIAP deficiency syndrome
XK aprosencephaly syndrome
XK syndrome
XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
X-linked Alport syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked Angelman-like syndrome
X-linked ataxia-deafness syndrome
X-linked ataxia-dementia syndrome
X-linked ataxia-hearing loss syndrome
X-linked branchial arch syndrome
X-linked cerebral-cerebellar-coloboma syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
X-linked cone dysfunction syndrome with myopia
X-linked deafness-intellectual disability syndrome syndrome
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
X-linked dysplasia gigantism syndrome
X-linked Ehlers-Danlos syndrome
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
X-linked hearing loss-intellectual disability syndrome syndrome
X-linked hyper-IgM syndrome
X-linked ichthyosis syndrome
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability-ataxia-apraxia syndrome
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
X-linked intellectual disability-craniofacioskeletal syndrome
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-dystonia-dysarthria syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
X-linked intellectual disability-epilepsy syndrome
X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
X-linked intellectual disability-gynecomastia-obesity syndrome
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-hypotonia syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
X-linked intellectual disability-microcephaly-testicular failure syndrome
X-linked intellectual disability-nail dystrophy-seizures syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked intellectual disability syndrome, Lubs type
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
X-linked lethal multiple pterygium syndrome
X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
X-linked lymphoproliferative syndrome type 1
X-linked lymphoproliferative syndrome type 2
X-linked McLeod syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
X-linked Ohdo syndrome
X-linked parkinsonism-spasticity syndrome
X-linked scapuloperoneal syndrome
X-linked skeletal dysplasia-intellectual disability syndrome
X-linked spasticity-intellectual disability-epilepsy syndrome
Xp21 contiguous gene deletion syndrome
Xp21 deletion syndrome
Xp21 microdeletion syndrome
Xp22.13p22.2 duplication syndrome
Xp22.3 microdeletion syndrome
Xq12-q13.3 duplication syndrome
Xq21 microdeletion syndrome
Xq22.3 microdeletion syndrome
Xq25 microduplication syndrome
Xq27.3q28 duplication syndrome
Xq27.3-q28 microduplication syndrome
Xq28 contiguous gene deletion syndrome
XX gonodal dysgenesis-deafness syndrome
XX gonodal dysgenesis-hearing loss syndrome
XX, male syndrome
XXX syndrome
XY gonadal agenesis syndrome
XY type gonadal dysgenesis-associated anomalies syndrome
XYY syndrome
Yakut short stature syndrome
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yorifuji-Okuno syndrome
Yoshimura-Takeshita syndrome
You-Hoover-Fong syndrome
Young-Hughes syndrome
Young syndrome
Yuan-Harel-Lupski syndrome
Yunis-Varon syndrome
YY1 haploinsufficiency syndrome
Zechi-Ceide syndrome
Zellweger-like contiguous gene deletion syndrome
Zellweger-like syndrome without peroxisomal anomalies
Zellweger syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
Zimmermann-Laband syndrome
Zinsser-Engman-Cole syndrome
Zlotogora-Ogur syndrome
Zollinger-Ellison syndrome
Zori-Stalker-Williams syndrome
ZTTK syndrome
Zunich-Kaye syndrome