Rare syndromes
- ABCD syndrome
- Adenosine deaminase 2 deficiency
- Alien hand syndrome
- Apert syndrome
- Apparent mineralocorticoid excess syndrome
- ATR-16 syndrome
- Bannayan–Riley–Ruvalcaba syndrome
- Barraquer–Simons syndrome
- Barth syndrome
- Beckwith–Wiedemann syndrome
- Benedikt syndrome
- Bernard–Soulier syndrome
- Björnstad syndrome
- Blue rubber bleb nevus syndrome
- Bonnet–Dechaume–Blanc syndrome
- Branchio-oculo-facial syndrome
- Branchio-oto-renal syndrome
- Brown's syndrome
- Brown–Vialetto–Van Laere syndrome
- Bruck syndrome
- Brunner syndrome
- Buschke–Ollendorff syndrome
- Cantú syndrome
- Capillary leak syndrome
- Central hypoventilation syndrome
- Chédiak–Higashi syndrome
- CHILD syndrome
- Christianson syndrome
- Conradi–Hünermann syndrome
- Corneal-cerebellar syndrome
- Cortes Lacassie syndrome
- Costello syndrome
- Crigler–Najjar syndrome
- Cri du chat syndrome
- Daentl Townsend Siegel syndrome
- Dahlberg Borer Newcomer syndrome
- Donnai–Barrow syndrome
- Dubin–Johnson syndrome
- Ectrodactyly–ectodermal dysplasia–cleft syndrome
- EEM syndrome
- Eiken syndrome
- Epignathus
- Evans syndrome
- Facial onset sensory and motor neuropathy
- Felty's syndrome
- FG syndrome
- Frank–Ter Haar syndrome
- Fraser syndrome
- Freeman–Sheldon syndrome
- Frey's syndrome
- Genitopatellar syndrome
- Gerstmann–Sträussler–Scheinker syndrome
- Gillespie syndrome
- Gómez–López-Hernández syndrome
- Haim–Munk syndrome
- Hair defect-photosensitivity-intellectual disability syndrome
- Hand-foot-genital syndrome
- Haploinsufficiency of A20
- Hapnes Boman Skeie syndrome
- Hay–Wells syndrome
- Heart-hand syndrome, Slovenian type
- Heart-hand syndromes
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- Hermansky–Pudlak syndrome
- HIDEA syndrome
- HUPRA syndrome
- 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
- Hyperphosphatasia with mental retardation syndrome
- H syndrome
- Imerslund–Gräsbeck syndrome
- Insulin autoimmune syndrome
- Jackson–Weiss syndrome
- Jalili syndrome
- Kabuki syndrome
- Kasabach–Merritt syndrome
- KBG syndrome
- Kearns–Sayre syndrome
- Kindler syndrome
- Klippel–Trénaunay syndrome
- Langer–Giedion syndrome
- Lesch–Nyhan syndrome
- Liddle's syndrome
- Lujan–Fryns syndrome
- Lyngstadaas syndrome
- Mahvash disease
- Mal de debarquement
- Marfanoid–progeroid–lipodystrophy syndrome
- Marshall–Smith syndrome
- MASA syndrome
- McLeod syndrome
- Melkersson–Rosenthal syndrome
- Miller syndrome
- Mitochondrial DNA depletion syndrome
- Morquio syndrome
- Mowat–Wilson syndrome
- Multi/minicore myopathy
- Myhre syndrome
- Nablus mask-like facial syndrome
- Neck-tongue syndrome
- Nijmegen breakage syndrome
- Njølstad syndrome
- Northern epilepsy syndrome
- Occipital horn syndrome
- Ogilvie syndrome
- Omenn syndrome
- Pallister–Hall syndrome
- Pallister–Killian syndrome
- Papillon–Lefèvre syndrome
- Pascual-Castroviejo syndrome type 1
- Pearson syndrome
- Perisylvian syndrome
- Peters-plus syndrome
- PIK3CA-related overgrowth spectrum
- POEMS syndrome
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Pontocerebellar hypoplasia
- Popliteal pterygium syndrome
- Posterior spinal artery syndrome
- Primrose syndrome
- Pulmonary sclerosing pneumocytoma
- Rabson–Mendenhall syndrome
- Ramsay Hunt syndrome type 1
- Red ear syndrome
- Robinow syndrome
- Ruijs-Aalfs syndrome
- Saal Bulas syndrome
- Salt water aspiration syndrome
- Sengers syndrome
- Sensenbrenner syndrome
- Shy-Drager syndrome
- Silver–Russell syndrome
- Sponastrime dysplasia
- Stevens–Johnson syndrome
- STING-associated vasculopathy with onset in infancy
- Strømme syndrome
- Sugarman syndrome
- SYT1-associated neurodevelopmental disorder
- TAR syndrome
- TEMPI syndrome
- Temple–Baraitser syndrome
- Tetrasomy X
- Tietz syndrome
- Toriello–Carey syndrome
- Transurethral resection of the prostate syndrome
- Tricho-hepato-enteric syndrome
- Trismus pseudocamptodactyly syndrome
- Trisomy 18
- Von Willebrand disease
- Warburg Micro syndrome
- Weismann-Netter–Stuhl syndrome
- Wiedemann–Steiner syndrome
- Williams syndrome
- Wolf–Hirschhorn syndrome
- XYYYY syndrome
- XYYY syndrome
- XYY syndrome
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