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

Open data · 12 authoritative sources

Find your disease.
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 4,861-4,880 of 10,888 diseases

disorder of neutral amino acid transport

MONDO:0017687

Disorder of neutral amino acid transport is an inherited metabolic condition characterized by a disruption in the normal movement of neutral amino aci...

disorder of peptide and amine metabolism

MONDO:0100473

Disorder of peptide and amine metabolism is an inherited metabolic condition that disrupts the normal processing of peptides and amines in the body. A...

disorder of peroxisomal alpha oxidation

MONDO:0100277

Disorder of peroxisomal alpha oxidation is a condition characterized by a defect in the peroxisomal pathway responsible for alpha oxidation of fatty a...

disorder of peroxisomal beta oxidation

MONDO:0019233

Disorder of peroxisomal beta oxidation is a condition that affects metabolic processes involving peroxisomes, which are cellular structures responsibl...

SCP2HSD17B4ACOX1+1

disorder of peroxisomal transporter

MONDO:0100372

Disorder of peroxisomal transporter is a condition defined by defects in a single enzyme or protein that disrupts the normal function of peroxisomes,...

disorder of phenylalanine metabolism

MONDO:0017306

Disorder of phenylalanine metabolism is a metabolic condition that affects the body’s ability to break down the amino acid phenylalanine. This process...

disorder of phospholipids, sphingolipids and fatty acids biosynthesis

MONDO:0018117

The disorder of phospholipids, sphingolipids and fatty acids biosynthesis is a condition that appears to disrupt normal lipid metabolic processes. Alt...

TAFAZZINELOVL5CHKB+7

disorder of plasmalogens biosynthesis

MONDO:0017986

Disorder of plasmalogens biosynthesis is a condition that affects the body’s ability to produce plasmalogens, a specialized type of lipid important fo...

disorder of polyamine metabolism

MONDO:0800159

Disorder of polyamine metabolism is an inherited metabolic disease characterized by a disruption in the polyamine metabolic process. As a metabolic co...

disorder of protein N-glycosylation

MONDO:0017740

Disorder of protein N-glycosylation is a condition that arises from a disruption in the normal process of attaching sugar molecules to proteins, a mod...

ALG3ALG13SSR4+7

disorder of protein O-glycosylation

MONDO:0017741

Disorder of protein O-glycosylation is a condition characterized by a disruption in the normal process of attaching sugars to proteins, a modification...

disorder of sex development-intellectual disability syndrome

MONDO:0010824

Disorder of sex development-intellectual disability syndrome is an extremely rare condition that primarily affects individuals with a 46,XY karyotype....

disorder of sialic acid metabolism

MONDO:0017736

Disorder of sialic acid metabolism is a condition that affects the body's normal metabolic processes involved in processing sialic acids, molecules es...

disorder of sphingolipid biosynthesis

MONDO:0021130

Disorder of sphingolipid biosynthesis is an inherited metabolic condition characterized by a disruption in the cellular process responsible for creati...

disorder of thiamine metabolism and transport

MONDO:0017578

Disorder of thiamine metabolism and transport is a metabolic condition that affects the body’s ability to properly process and transport thiamine (vit...

disorder of tyrosine metabolism

MONDO:0017307

Disorder of tyrosine metabolism is a condition that affects the body’s ability to process the amino acid tyrosine, which plays an important role in va...

disorder of visual system

MONDO:0024458

Disorder of visual system is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

MIR204TMEM67ADAT3+2

disorder of vitamin and non-protein cofactor absorption and transport

MONDO:0017758

The disorder of vitamin and non-protein cofactor absorption and transport is a condition that affects the body’s ability to absorb and transport impor...

disorder of zinc metabolism

MONDO:0017764

The disorder of zinc metabolism is associated with variants in three known genes: SLC39A4, PSTPIP1, and SLC30A9. However, the specific inheritance pat...

SLC39A4PSTPIP1SLC30A9

disorders of pentose/polyol metabolism

MONDO:0018605

Disorders of pentose/polyol metabolism refer to a group of metabolic conditions that affect the body’s ability to process certain sugars and sugar alc...

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