Rare Disease Library

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acropectorovertebral dysplasia

F syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Stratton-Garcia-Young syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

CK syndrome

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

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

CLOVES syndrome

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

H syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

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

Harrod syndrome

Cranio-facio-digito-genital syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity 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

Holmes-Gang syndrome

Hughes-Stovin syndrome

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Hurler syndrome

Hurler disease · MPS1H

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