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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.
Kisho provides public health information only — not medical advice. Always consult your healthcare provider.
12
authoritative sources — clinical, regulatory, scientific
10,888
rare conditions, continuously monitored
Daily
updates from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet…
Showing 4,501-4,520 of 10,888 diseases
MONDO:0009629
Desbuquois dysplasia 1 is a rare condition caused by a mutation in the CANT1 gene. This condition is characterized by a type of skeletal dysplasia whe...
MONDO:0014343
Desbuquois dysplasia 2 is a rare genetic condition caused by a mutation in the XYLT1 gene. It is also known by names such as Baratela-Scott syndrome,...
MONDO:0019398
Desmin-related myopathy with Mallory body-like inclusions is a very rare muscle condition that affects skeletal muscles and may also impact other musc...
MONDO:0007608
Desmoid tumor, also referred to as aggressive fibromatosis, is a benign soft tissue tumor that is locally invasive and characterized by a high rate of...
MONDO:0100168
Desmoid tumor caused by somatic mutation is a type of soft tissue tumor that arises from fibroblastic cells and is known for its locally aggressive be...
MONDO:0006179
Desmoplastic ameloblastoma is a variant of ameloblastoma that is characterized by a prominent, dense (desmoplastic) stroma which compresses clusters o...
MONDO:0700292
Desmoplastic fibroma is a rare condition characterized by the growth of fibrous tissue within the bone, leading to locally aggressive tumors. The prec...
MONDO:0022963
Desmoplastic infantile astrocytoma is a brain tumor classified as WHO grade I that primarily affects infants. It is characterized by a large cystic ma...
MONDO:0016731
Desmoplastic infantile astrocytoma/ganglioglioma (also known as DIA/DIG) is a type of brain tumor arising from mixed neuronal and glial cells. These t...
MONDO:0022965
Desmoplastic infantile ganglioglioma is a brain tumor that primarily occurs in infants and involves the superficial cerebral cortex and leptomeninges....
MONDO:0016711
Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, a type of embryonic malignancy that typically affects the cerebellu...
MONDO:0019373
Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that primarily arises on the serosal surfaces of the abdominal or pelv...
MONDO:0011217
Desmosterolosis is a very rare sterol biosynthesis disorder that primarily affects multiple organ systems, particularly the central nervous system and...
MONDO:0009887
Desquamative interstitial pneumonia is an idiopathic interstitial lung condition characterized by the accumulation of macrophages in the alveolar spac...
MONDO:0100620
Developmental and epileptic encephalopathy is a neurological disorder characterized by severe epilepsy alongside developmental impairment. The precise...
MONDO:0010632
Developmental and epileptic encephalopathy 1 is a rare brain disorder that begins in early infancy. It is caused by a change in the ARX gene on the X...
MONDO:0030695
Developmental and epileptic encephalopathy 100 is a neurodevelopmental condition characterized by significant delays in development and epilepsy, as w...
MONDO:0030727
Developmental and epileptic encephalopathy 101 is a severe neurodevelopmental condition that primarily impacts brain function and other body systems....
MONDO:0030881
Developmental and epileptic encephalopathy 102 is a complex condition that principally affects brain development and function. It is characterized by...
MONDO:0030957
Developmental and epileptic encephalopathy 103 is a severe neurodevelopmental disorder that primarily affects the brain, leading to profound developme...
Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.