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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 |
