Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

44 matching diseasesClear search ×

ABeta amyloidosis, Arctic type

ABetaE22G amyloidosis · HCHWA, Arctic type

ORPHA:324723

ABeta amyloidosis, Dutch type

HCHWA, Dutch type · HCHWA-D

ORPHA:100006

ABeta amyloidosis, Iowa type

ABetaD23N amyloidosis · HCHWA, Iowa type

ORPHA:324708

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

ORPHA:324713

ABeta2M amyloidosis

Beta2-microglobulinic amyloidosis

ORPHA:439246

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

ORPHA:324718

ABetaL34V amyloidosis

ABetaL34V-related amyloidosis · HCHWA, Piedmont type

ORPHA:324703

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

ORPHA:14

Acute bilirubin encephalopathy

ABE · Acute kernicterus

ORPHA:529799

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

ORPHA:800

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

ORPHA:1192

Babesiosis

ORPHA:108

Cataract-aberrant oral frenula-growth delay syndrome

Wellesley-Carman-French syndrome

ORPHA:1373

Diabetic embryopathy

Diabetes-induced teratogenicity

ORPHA:1926

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044

Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

ORPHA:436144

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

ORPHA:99885

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome

ORPHA:445062

Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy

ORPHA:156156

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

ORPHA:2579

Myopathy and diabetes mellitus

ORPHA:2596

Neonatal diabetes mellitus

NDM · Congenital diabetes mellitus

ORPHA:224

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

ORPHA:79118

OBSOLETE: Abnormal origin or aberrant course of coronary artery

ORPHA:95493

OBSOLETE: Congenital central diabetes insipidus

ORPHA:95501

OBSOLETE: Diabetes associated to exocrine pancreas neoplasia

ORPHA:98167

OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus

ORPHA:28455

OBSOLETE: Posttraumatic diabetes insipidus

ORPHA:95625

Other rare diabetes mellitus

ORPHA:181381

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome

ORPHA:2255

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pancreatic and cerebellar agenesis

ORPHA:65288

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome

PHID

ORPHA:254723

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

ORPHA:306558

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

ORPHA:391408

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

ORPHA:2083

Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

ORPHA:3390

Rare diabetes mellitus

ORPHA:101952

Rare diabetes mellitus type 1

Rare insulin-dependent diabetes mellitus

ORPHA:181371

Rare diabetes mellitus type 2

Rare insulin-independent diabetes mellitus

ORPHA:181376

Rare genetic diabetes mellitus

ORPHA:183625

Transient neonatal diabetes mellitus

TNDM

ORPHA:99886

Variant ABeta2M amyloidosis

Autosomal dominant beta2-microglobulinic amyloidosis

ORPHA:314652

X-linked intellectual disability, Cabezas type

Cabezas syndrome

ORPHA:85293