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Rare Disease Intelligence — 10,888 conditions monitored | Kisho | Kisho

Open data · 12 authoritative sources

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What’s known, in plain language.

Plain-language summaries of 10,888 rare conditions, drawn from MONDO, GeneReviews, ClinVar, FDA, NIH, ClinicalTrials.gov, PubMed, and 5 other public sources. Free, sourced, never gated.

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12

authoritative sources — clinical, regulatory, scientific

10,888

rare conditions, continuously monitored

Daily

updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…

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Showing 3,081-3,100 of 10,888 diseases

cholestasis, progressive familial intrahepatic, 13

MONDO:0975807

Cholestasis, progressive familial intrahepatic, 13 is associated with variants in the PSKH1 gene. However, the inheritance pattern for this condition...

cholestasis, progressive familial intrahepatic, 4

MONDO:0014381

Cholestasis, progressive familial intrahepatic, 4 is an inherited liver condition characterized by severe cholestasis and liver damage. It is caused b...

cholestasis, progressive familial intrahepatic, 5

MONDO:0014884

Cholestasis, progressive familial intrahepatic, 5 is a severe liver condition characterized by impaired bile flow that leads to progressive liver dama...

cholestasis, progressive familial intrahepatic, 6

MONDO:0030360

Cholestasis, progressive familial intrahepatic, 6 is a liver disorder characterized by impaired bile flow leading to conjugated hyperbilirubinemia and...

cholestasis, progressive familial intrahepatic, 7, with or without hearing loss

MONDO:0030503

Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss is a liver disorder that presents with impaired bile flow leading to c...

cholestasis, progressive familial intrahepatic, 8

MONDO:0030505

Cholestasis, progressive familial intrahepatic, 8 is a liver disorder characterized by impaired bile flow and associated biochemical abnormalities. Th...

cholestasis, progressive familial intrahepatic, 9

MONDO:0030800

Cholestasis, progressive familial intrahepatic, 9 is an inherited liver condition characterized by problems in bile duct structure and function. The c...

cholesterol biosynthetic process disease

MONDO:0045017

Cholesterol biosynthetic process disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limi...

DHCR7SC5DDHCR24

cholesterol catabolic process disease

MONDO:0045016

Cholesterol catabolic process disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited...

cholesterol-ester transfer protein deficiency

MONDO:0007744

Cholesterol-ester transfer protein deficiency, also known as CETP deficiency, is caused by variants in the CETP gene, which is inherited in an autosom...

cholesterol metabolism disease

MONDO:0045008

Cholesterol metabolism disease is a disorder characterized by a disruption in the normal processes that manage cholesterol in the body. This condition...

cholesteryl ester storage disease

MONDO:0019149

Cholesteryl ester storage disease is a metabolic condition classified as a form of lysosomal acid lipase deficiency, in which cholesterol esters and t...

chondroblastic osteosarcoma

MONDO:0002627

Chondroblastic osteosarcoma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

chondroblastoma

MONDO:0004997

Chondroblastoma is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. It is characterized...

chondrocalcinosis 1

MONDO:0010917

Chondrocalcinosis 1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

chondrocalcinosis 2

MONDO:0007319

Chondrocalcinosis 2 is a chronic inherited joint disorder characterized by calcification of cartilage and recurrent episodes of calcium pyrophosphate...

chondrodysplasia Blomstrand type

MONDO:0008970

Chondrodysplasia Blomstrand type is a severe skeletal disorder that affects bone growth and development. The condition is caused by changes in the PTH...

chondrodysplasia calcificans Metaphysealis

MONDO:0008971

chondrodysplasia calcificans Metaphysealis is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

chondrodysplasia-pseudohermaphroditism syndrome

MONDO:0010814

Chondrodysplasia-pseudohermaphroditism syndrome is an extremely rare inherited disorder that affects bone growth and sexual development. It is caused...

chondrodysplasia punctata

MONDO:0019701

Chondrodysplasia punctata is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

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