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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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Commonly searched:Cystic Fibrosis Duchenne Huntington's ALS Sickle Cell

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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 4,001-4,020 of 10,888 diseases

congenital neutropenia-myelofibrosis-nephromegaly syndrome

MONDO:0014118

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is a multi-system condition characterized by severe abnormalities in blood cell production,...

congenital non-bullous ichthyosiform erythroderma

MONDO:0019306

Congenital non-bullous ichthyosiform erythroderma is a variant of congenital ichthyosis characterized by widespread redness of the skin with fine, whi...

CERS3PNPLA1NIPAL4+2

congenital non-communicating hydrocephalus

MONDO:0017117

Congenital non-communicating hydrocephalus is a condition present at birth that involves an abnormal build‐up of cerebrospinal fluid due to obstructio...

congenital nongoitrous hypothyroidism 3

MONDO:0012360

Congenital nongoitrous hypothyroidism 3 is a condition affecting thyroid function that is present from birth, and it is characterized by resistance to...

congenital nongoitrous hypothyroidism 6

MONDO:0013757

Congenital nongoitrous hypothyroidism 6 is a form of congenital hypothyroidism caused by a mutation in the THRA gene. This condition affects thyroid h...

congenital nonspherocytic hemolytic anemia

MONDO:0006506

Congenital nonspherocytic hemolytic anemia is a group of inherited anemias characterized by the premature destruction of red blood cells due to a defe...

congenital oculomotor nerve palsy

MONDO:0018599

Congenital oculomotor nerve palsy is a condition present at birth that involves an impairment in the function of the third cranial nerve, which is res...

congenital-onset Steinert myotonic dystrophy

MONDO:0035646

Congenital-onset Steinert myotonic dystrophy is a condition that presents at birth with challenges in muscle function. Although detailed clinical feat...

congenital optic disk excavation

MONDO:0850010

Congenital optic disk excavation is a developmental anomaly affecting the optic nerve head that is identified through detailed eye examinations. It in...

congenital or early infantile CACH syndrome

MONDO:0015519

Congenital or early infantile CACH syndrome is a condition that presents during infancy with clinical features that are not yet well characterized. Th...

congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

MONDO:0009803

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is a severe condition that affects skeletal development, cranial formation, and eye...

congenital pancreatic cyst

MONDO:0017783

Congenital pancreatic cyst is a very rare condition characterized by the presence of a fluid-filled cyst in the pancreas that is present from birth. I...

congenital panfollicular nevus

MONDO:0015341

Congenital panfollicular nevus is a rare, benign skin tumor disorder that is present at birth. It is characterized by large, elevated, well-circumscri...

congenital partial agenesis of pericardium

MONDO:0020455

Congenital partial agenesis of pericardium is a congenital heart malformation characterized by the partial absence of the left pericardium. In many ca...

congenital partial pulmonary venous return anomaly

MONDO:0020453

Congenital partial pulmonary venous return anomaly, also known as Partial anomalous pulmonary Venous connection, is a heart condition in which one or...

congenital patella dislocation

MONDO:0017471

Congenital patella dislocation is a musculoskeletal condition present from birth that affects the alignment of the kneecap. It is characterized by an...

congenital patella dislocation, bilateral

MONDO:0017563

Congenital patella dislocation, bilateral is a musculoskeletal condition characterized by an abnormal positioning of the kneecaps that is present at b...

congenital patella dislocation, unilateral

MONDO:0017562

Congenital patella dislocation, unilateral is a condition affecting the alignment of the kneecap on one side, present from birth. It is classified as...

congenital patent ductus arteriosus aneurysm

MONDO:0020412

Congenital patent ductus arteriosus aneurysm is a rare congenital anomaly involving an abnormal saccular dilatation of the ductus arteriosus. It prima...

congenital pericardium anomaly

MONDO:0017300

Congenital pericardium anomaly describes a group of congenital cardiac malformations that affect the protective sac surrounding the heart. This condit...

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Built from MONDO, HPO, ClinicalTrials.gov, FDA, Orphanet, and 7 more public sources. Updated daily.