[{"n": "ABCD syndrome", "u": "/e/rare-syndromes/abcd-syndrome/", "s": "A rare genetic disorder combining albinism, black locks, gut nerve defects, and deafness."}, {"n": "Achondrogenesis type 2", "u": "/e/rare-syndromes/achondrogenesis-type-2/", "s": "Fatal skeletal dysplasia caused by COL2A1 mutations."}, {"n": "ADULT syndrome", "u": "/e/rare-syndromes/adult-syndrome/", "s": "Rare genetic disorder from TP63 mutation, distinct from EEC syndrome."}, {"n": "Acrorenal mandibular syndrome", "u": "/e/rare-syndromes/acrorenal-mandibular-syndrome/", "s": "Extremely rare syndrome with skeletal and renal anomalies."}, {"n": "Adenosine deaminase 2 deficiency", "u": "/e/rare-syndromes/adenosine-deaminase-2-deficiency/", "s": "A monogenic disease with systemic inflammation, vasculopathy, and variable manifestations across vascular, imm"}, {"n": "ADNP syndrome", "u": "/e/rare-syndromes/adnp-syndrome/", "s": "A neurodevelopmental disorder from ADNP gene mutations."}, {"n": "Aicardi syndrome", "u": "/e/rare-syndromes/aicardi-syndrome/", "s": "Rare genetic syndrome with brain, eye, and seizure abnormalities."}, {"n": "Al-Gazali-Donnai-Mueller syndrome", "u": "/e/rare-syndromes/al-gazali-donnai-mueller-syndrome/", "s": "Rare deadly genetic disorder featuring Hirschsprung's disease and dysmorphic features."}, {"n": "Alagille syndrome", "u": "/e/rare-syndromes/alagille-syndrome/", "s": "Genetic disorder affecting liver, heart, and other organs."}, {"n": "Alport syndrome", "u": "/e/rare-syndromes/alport-syndrome/", "s": "A genetic disorder affecting kidneys, ears, and eyes."}, {"n": "Angelman syndrome", "u": "/e/rare-syndromes/angelman-syndrome/", "s": "Rare genetic disorder causing severe developmental and neurological impairments."}, {"n": "Apparent mineralocorticoid excess syndrome", "u": "/e/rare-syndromes/apparent-mineralocorticoid-excess-syndrome/", "s": "Rare genetic disorder causing hypertension via cortisol mineralocorticoid receptor activation."}, {"n": "ATR-16 syndrome", "u": "/e/rare-syndromes/atr-16-syndrome/", "s": "Rare chromosomal deletion causing blood disorder and intellectual disability."}, {"n": "Auto-brewery syndrome", "u": "/e/rare-syndromes/auto-brewery-syndrome/", "s": "A rare condition where the gut produces alcohol internally."}, {"n": "Autoimmune polyendocrine syndrome", "u": "/e/rare-syndromes/autoimmune-polyendocrine-syndrome/", "s": "Rare diseases with autoimmune attack on multiple endocrine organs."}, {"n": "Bannayan–Riley–Ruvalcaba syndrome", "u": "/e/rare-syndromes/bannayan-riley-ruvalcaba-syndrome/", "s": "Rare overgrowth syndrome linked to PTEN gene mutation."}, {"n": "Barakat syndrome", "u": "/e/rare-syndromes/barakat-syndrome/", "s": "Rare genetic disorder with hypoparathyroidism, deafness, and kidney disease."}, {"n": "Bardet–Biedl syndrome", "u": "/e/rare-syndromes/bardet-biedl-syndrome/", "s": "A ciliopathic genetic disorder affecting multiple body systems."}, {"n": "Barraquer–Simons syndrome", "u": "/e/rare-syndromes/barraquer-simons-syndrome/", "s": "Rare lipodystrophy affecting head and thorax."}, {"n": "Barth syndrome", "u": "/e/rare-syndromes/barth-syndrome/", "s": "X-linked disorder causing cardiomyopathy, neutropenia, and metabolic abnormalities."}, {"n": "Bartter syndrome", "u": "/e/rare-syndromes/bartter-syndrome/", "s": "Rare inherited kidney disorder causing electrolyte imbalances."}, {"n": "Beckwith–Wiedemann syndrome", "u": "/e/rare-syndromes/beckwith-wiedemann-syndrome/", "s": "Overgrowth disorder with elevated childhood cancer risk."}, {"n": "Behr syndrome", "u": "/e/rare-syndromes/behr-syndrome/", "s": "Rare disorder linking optic atrophy with spinocerebellar degeneration."}, {"n": "Bernard–Soulier syndrome", "u": "/e/rare-syndromes/bernard-soulier-syndrome/", "s": "Rare bleeding disorder with giant platelets and defective adhesion."}, {"n": "Williams syndrome", "u": "/e/rare-syndromes/williams-syndrome/", "s": "A genetic disorder with distinctive facial features and a sociable personality."}, {"n": "Persistent Müllerian duct syndrome", "u": "/e/rare-syndromes/persistent-m-llerian-duct-syndrome/", "s": "A congenital disorder causing female reproductive organs in males."}, {"n": "Laron syndrome", "u": "/e/rare-syndromes/laron-syndrome/", "s": "A rare genetic disorder causing growth hormone resistance."}, {"n": "Ectrodactyly–ectodermal dysplasia–cleft syndrome", "u": "/e/rare-syndromes/ectrodactyly-ectodermal-dysplasia-cleft-syndrome/", "s": "A rare genetic disorder affecting limbs, skin, and facial structures."}, {"n": "Nevoid basal-cell carcinoma syndrome", "u": "/e/rare-syndromes/nevoid-basal-cell-carcinoma-syndrome/", "s": "Rare inherited syndrome with multiple basal-cell carcinomas and systemic defects."}, {"n": "Pallister–Killian syndrome", "u": "/e/rare-syndromes/pallister-killian-syndrome/", "s": "Rare genetic disorder from extra copies of chromosome 12p."}, {"n": "Rabson–Mendenhall syndrome", "u": "/e/rare-syndromes/rabson-mendenhall-syndrome/", "s": "Rare autosomal recessive disorder causing severe insulin resistance."}, {"n": "Hermansky–Pudlak syndrome", "u": "/e/rare-syndromes/hermansky-pudlak-syndrome/", "s": "Rare autosomal recessive disorder causing albinism, bleeding, and ceroid storage."}, {"n": "Robinow syndrome", "u": "/e/rare-syndromes/robinow-syndrome/", "s": "Rare genetic disorder causing dwarfism and distinctive facial features."}, {"n": "Chédiak–Higashi syndrome", "u": "/e/rare-syndromes/ch-diak-higashi-syndrome/", "s": "Rare autosomal recessive disorder with albinism and recurrent infections."}, {"n": "Crouzon syndrome", "u": "/e/rare-syndromes/crouzon-syndrome/", "s": "Genetic disorder causing premature skull and facial bone fusion."}, {"n": "Stickler syndrome", "u": "/e/rare-syndromes/stickler-syndrome/", "s": "A rare genetic disorder affecting collagen and connective tissue."}, {"n": "Pfeiffer syndrome", "u": "/e/rare-syndromes/pfeiffer-syndrome/", "s": "A rare genetic disorder affecting skull, hands, and feet."}, {"n": "Griscelli syndrome", "u": "/e/rare-syndromes/griscelli-syndrome/", "s": "Rare autosomal recessive disorder with hypopigmentation and immunodeficiency."}, {"n": "Donnai–Barrow syndrome", "u": "/e/rare-syndromes/donnai-barrow-syndrome/", "s": "A genetic disorder affecting many body systems."}, {"n": "Cohen syndrome", "u": "/e/rare-syndromes/cohen-syndrome/", "s": "A rare genetic disorder with obesity, intellectual disability, and facial anomalies."}, {"n": "Goldenhar syndrome", "u": "/e/rare-syndromes/goldenhar-syndrome/", "s": "A rare congenital defect of branchial arch development."}, {"n": "Jansen's metaphyseal chondrodysplasia", "u": "/e/rare-syndromes/jansen-s-metaphyseal-chondrodysplasia/", "s": "Rare disorder from PTH1R activating mutations causing short stature."}]