Rare Disease Library

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acropectorovertebral dysplasia

F syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

C syndrome

OTCS · Opitz C trigonocephaly

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

H syndrome

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

HELLP syndrome

Hemolysis, elevated liver enzymes, low platelets in pregnancy · Hemolysis-elevated liver enzymes-low platelets syndrome

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

Hinman syndrome

HAS · HS

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Infantile-onset spinocerebellar ataxia

IOSCA · Ohaha syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

OBSOLETE: Amniotic bands

OBSOLETE: ADAM syndrome · OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome

OBSOLETE: Angioosteohypertrophic syndrome

OBSOLETE: Klippel-Trénaunay-Weber syndrome

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

OBSOLETE: ATR-X-related syndrome