Rare Disease Guides

Plain-language guides to rare conditions, built only from published research. Every statement shows how strong the evidence is and links to its source.

Please read first. These guides are not medical advice and cannot diagnose or treat anyone. Use them to understand what research says and to have better conversations with your own clinicians. Some are early maps and will look incomplete: that means we have only included what we can tie to a published source, not that little is known. How these guides are built.

Featured conditions

Ehlers-Danlos syndrome

EDS is a group of inherited conditions where the body's connective tissue, the material that gives skin, joints, and blood vessels their strength and stretch, is built differently. This can make joints very loose, skin stretchy or fragile, and in some forms can make blood vessels and organs prone to tearing.

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Established map · 64 concepts · 67 relationships · 31 sources · updated 2026-06-10

Fabry disease

Fabry disease is an inherited (X-linked) lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. The enzyme shortfall lets fatty material build up in cells throughout the body, progressively damaging the skin, kidneys, heart, nerves, and brain. (confirmed from PMID:33172708, curation 2026-06-11)

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Early map · 9 concepts · 4 relationships · 4 sources · updated 2026-06-11

Gaucher disease

Gaucher disease is an inherited (autosomal recessive) lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase. The enzyme shortfall lets a fatty substance (glucosylceramide) build up inside immune cells called macrophages, which collect in the spleen, liver, and bone marrow. (confirmed from PMID:28218669, curation 2026-06-11)

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Early map · 11 concepts · 4 relationships · 4 sources · updated 2026-06-11

giant cell arteritis

Giant cell arteritis (GCA), also called temporal arteritis, is an inflammatory disease of large and medium-sized arteries. It affects the cranial arteries as well as the aorta and its great-vessel branches, almost always in adults over 50. (confirmed from PMID:37021621, curation 2026-06-11)

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Early map · 10 concepts · 3 relationships · 8 sources · updated 2026-06-11

hereditary angioedema

Hereditary angioedema is a genetic condition that causes repeated episodes of swelling deep under the skin and in the body's internal linings. The swelling is usually driven by a natural body chemical called bradykinin, and attacks that affect the throat (laryngeal edema) can be life-threatening. (confirmed from PMID:42165046, curation 2026-06-11)

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Early map · 19 concepts · 14 relationships · 11 sources · updated 2026-06-11

Huntington disease

Huntington disease is an inherited (autosomal dominant) neurodegenerative brain disease that progressively affects movement, thinking, and behaviour, with onset usually in adulthood. It is caused by an expanded CAG repeat in the HTT gene. (confirmed from PMID:27188817, curation 2026-06-11)

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Early map · 8 concepts · 4 relationships · 5 sources · updated 2026-06-11

myasthenia gravis

Myasthenia gravis is an autoimmune disorder of the junction between nerve and muscle, marked by muscle weakness that fluctuates, getting worse and better at different times. (confirmed from PMID:41524776, curation 2026-06-11)

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Early map · 21 concepts · 7 relationships · 14 sources · updated 2026-06-11

Takayasu arteritis

Takayasu arteritis is one of the main forms of large-vessel vasculitis: long-term inflammation of the large arteries, especially the aorta and its branches, that can narrow or block them. It mostly affects young women. (confirmed from PMID:39817309, curation 2026-06-10)

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Early map · 20 concepts · 25 relationships · 10 sources · updated 2026-06-10

Browse all conditions

Angelman syndromeNeurodevelopmental / imprintingEarly map atypical hemolytic uremic syndromeHematologicEarly map Behçet diseaseVascularAutoinflammatoryEarly map Charcot-Marie-Tooth disease type 1ANeuromuscularEarly map cystic fibrosisPulmonaryMetabolicEarly map Duchenne muscular dystrophyNeuromuscularEarly map Ehlers-Danlos syndromeConnective tissueEstablished map Fabry diseaseMetabolicEarly map familial Mediterranean feverAutoinflammatoryEarly map Friedreich ataxiaNeurologicNeuromuscularEarly map G6PD deficiencyHematologicMetabolicEarly map Gaucher diseaseMetabolicEarly map giant cell arteritisVascularEarly map granulomatosis with polyangiitisVascularEarly map hemiplegic migraineNeurologicEarly map hereditary angioedemaImmunologicEarly map hereditary hemochromatosisMetabolicEarly map Huntington diseaseNeurologicEarly map idiopathic pulmonary fibrosisPulmonaryEarly map Leber hereditary optic neuropathyNeurologicEarly map Marfan syndromeConnective tissueVascularEarly map mast cell activation syndromeImmunologicHematologicEarly map McCune-Albright syndromeEndocrineEarly map myasthenia gravisNeuromuscularEarly map paroxysmal nocturnal hemoglobinuriaHematologicEarly map phenylketonuriaMetabolicNeurologicEarly map Pompe diseaseMetabolicNeuromuscularEarly map Prader-Willi syndromeNeurodevelopmental / imprintingEarly map sickle cell diseaseHematologicEarly map spinal muscular atrophyNeuromuscularEarly map systemic sclerosisConnective tissueVascularPulmonaryEarly map Takayasu arteritisVascularEarly map Tay-Sachs diseaseNeurologicMetabolicEarly map Wilson diseaseMetabolicNeurologicEarly map

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